SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


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
RESET FILTER | Save Config | Save Analysis

Genes at Omim

CLCN7,
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)

Genes at Clinical Genomics Database

CLCN7,
CLCN7 Osteopetrosis, autosomal dominant 2
Osteopetrosis, autosomal recessive 4

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV

CLCN7

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 16 . 1502875 7332.39 C G PASS 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1510885 4555.52 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1497476 1234.93 T C PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.34 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1505197 299.6 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.08 None None None None None None None