ClinVar Miner

List of variants in gene OPN1MW reported as pathogenic for color vision disorder

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000513.2(OPN1MW):c.-112A>C rs724159983
NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys) rs104894915
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_000513.2(OPN1MW):c.807_948del (p.Met269fs) rs2148787747
NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln) rs104894916

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