ClinVar Miner

List of variants reported as pathogenic for Oguchi disease by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) rs777094000 0.00004
NM_000541.5(SAG):c.523C>T (p.Arg175Ter) rs587777209 0.00001
NM_000541.5(SAG):c.874C>T (p.Arg292Ter) rs397514681
NM_000541.5(SAG):c.916G>T (p.Glu306Ter) rs397514682
NM_000541.5(SAG):c.926del (p.Asn309fs) rs587776778
NM_002929.3(GRK1):c.1172C>A (p.Pro391His) rs570621429
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051

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