ClinVar Miner

List of variants reported as likely pathogenic for color vision disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) rs771172885
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly) rs201713771
NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu)
NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu) rs1311451829

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