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CLINICAL GENOMICS DATABASE:
HGMD:
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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

AHCY, EEF1A2, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
EEF1A2 Mental retardation, autosomal dominant 38, 616393 (3)
Epileptic encephalopathy, early infantile, 33, 616409 (3)
IDH3B Retinitis pigmentosa 46, 612572 (3)
KCNQ2 Seizures, benign neonatal, 1, 121200 (3)
Myokymia, 121200 (3)
Epileptic encephalopathy, early infantile, 7, 613720 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)

Genes at Clinical Genomics Database

AHCY, EEF1A2, FERMT1, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
EEF1A2 Mental retardation, autosomal dominant 28
Epileptic encephalopathy, early infantile, 33
FERMT1 Kindler syndrome
IDH3B Retinitis pigmentosa, autosomal recessive, IDH3B-related
KCNQ2 Myokymia
Benign familial neonatal seizures, 1
Epileptic encephalopathy, early infantile, 7
NOP56 Spinocerebellar ataxia 36
PRPF6 Retinitis pigmentosa 60
SNTA1 Long QT syndrome 12
TBC1D20 Warburg micro syndrome 4

Genes at HGMD

Summary

Number of Variants: 2943
Number of Genes: 45

Export to: CSV
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 25278280 39692.93 G GC... PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64327831 1123.41 T C PASS 0/1 182 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64276336 1139.33 ATAT A PASS 0/1 50 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64276168 538.78 G T PASS 0/1 77 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64273737 19146.74 T TTTC PASS 0/1 11 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34990448 44469.73 A G PASS 0/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34989558 2269.24 A G PASS 0/1 60 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34986962 53603.73 T C PASS 0/1 187 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34977366 1851.94 T C PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34957942 1357.49 C T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34945933 98628.9 A C PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34929211 25098.93 A G PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34928268 1117.72 T C PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34921720 461752.95 C T PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34921472 102964.49 G A PASS 0/1 108 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34919161 8212.31 G A PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34912575 1559.88 G A PASS 0/1 94 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34912442 784.33 C A PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34882891 114153.49 C T PASS 0/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34850961 215.72 C G PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34825373 189.93 G C PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34792383 115.22 GAA GA,G PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34782463 4150.52 T C PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34776852 837.41 C T PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34758753 144982.89 ATC A PASS 0/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34754674 59393.78 G A PASS 0/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34740616 682.63 C T PASS 0/1 85 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34740220 13799.58 C T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34637989 2898.07 GA G,GAA PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34581691 16999.15 AAGAG A PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34581601 371.63 C T PASS 0/1 44 None None None 6.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34562699 852.63 C T PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34560504 949.57 AC A PASS 0/1 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34560175 1019.82 CC... C PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34559528 212.69 G A PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34516787 4630.27 G C PASS 0/1 48 None None None -0.15 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34480758 51989.16 A T PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34470169 160258.95 CT C PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34470149 179083.1 G C PASS 0/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34466180 8375.33 A AT PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34449531 27300.16 C T PASS 0/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34445549 339.63 G A PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34408883 34356.34 G T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34369410 894.29 G A PASS 0/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34363402 88.21 G A PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34303394 1476.41 G T PASS 0/1 112 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34280231 1498.24 G A PASS 0/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34280178 1591.5 C T PASS 0/1 57 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34269192 1548.63 A G PASS 0/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34096503 33957.08 G A PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34079839 3378.91 A G PASS 0/1 173 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34079801 3088.29 C A PASS 0/1 130 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34077058 21111.89 C CCAG PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34031330 457.77 A G PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33791457 28037.28 T C PASS 0/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33790926 8597.59 G A PASS 0/1 60 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33753235 119.63 C T PASS 0/1 9 None None None 1.36 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33745520 18.23 T A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33710498 21.64 C G PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33675427 453.79 A C PASS 0/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33667635 1377.8 C A PASS 0/1 109 None None None 3.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33660475 4674.31 C T PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33658063 2329.83 C G PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33624884 122957.09 C T PASS 0/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33394100 50.63 C A PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33374054 27408.3 T C PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33366729 5944.94 G A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33298976 69.11 CT C PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33225117 146812.18 G A PASS 0/1 72 None None None -1.11 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33217658 1281.4 C A PASS 0/1 63 None None None 3.13 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33107567 953.63 T C PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33100524 39660.69 C T PASS 0/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33100454 80719.69 C T PASS 0/1 96 None None None 1.24 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33100435 86309.14 T C PASS 0/1 106 None None None 0.90 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45535349 860.37 T C PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45535186 833.19 G T PASS 0/1 71 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45515478 660.43 C T PASS 0/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33043165 7778.26 C T PASS 0/1 51 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33042918 10896.26 G A PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33042105 12918.01 G A PASS 0/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs539759615
dbSNP
33040541 3243.73 C T PASS 0/1 4 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33039485 172822.74 A G PASS 0/1 22 None None None -1.25 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs542240002
dbSNP
33038815 182930.69 C T PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33038752 87855.35 G C PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs553180236
dbSNP
33036562 88187.84 C T PASS 0/1 74 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33036494 29267.26 C T PASS 0/1 129 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33035843 4793.71 C T PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33035033 48631.69 T C PASS 0/1 117 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33034962 35503.84 C A PASS 0/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33034314 16855.26 G T PASS 0/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33034099 3481.33 G A PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33033758 1109.78 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33031918 3284.64 A T PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33031694 7138.25 C T PASS 0/1 116 None None None 0.31 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33031551 5183.94 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33017005 9941.57 C T PASS 0/1 70 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32898692 18.43 G A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32858725 25.75 T A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32743156 17.39 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32728060 37837.65 C T PASS 0/1 46 None None None None None None None None None None