ClinVar Miner

List of variants studied for Oguchi disease by Molecular Medicine, University of Leeds

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) rs777094000 0.00004
NM_002929.3(GRK1):c.1138G>T (p.Val380Phe) rs995065177 0.00002
NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter) rs137877289 0.00002
NM_002929.3(GRK1):c.1084G>A (p.Glu362Lys) rs1441327018
NM_002929.3(GRK1):c.1129G>C (p.Ala377Pro) rs2049935254
NM_002929.3(GRK1):c.1172C>A (p.Pro391His) rs570621429
NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys) rs765070399
NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter) rs1594580431
NM_002929.3(GRK1):c.1411_1412del (p.Pro471fs) rs2049992612
NM_002929.3(GRK1):c.142_145del (p.Glu48fs) rs748680704
NM_002929.3(GRK1):c.1549_1559del (p.Pro517fs) rs2049994399
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051
NM_002929.3(GRK1):c.470T>C (p.Leu157Pro) rs2049829612
NM_002929.3(GRK1):c.55C>T (p.Arg19Ter) rs370713047
NM_002929.3(GRK1):c.595G>C (p.Gly199Arg) rs2049830881
NM_002929.3(GRK1):c.614C>A (p.Ser205Ter) rs761138317
NM_002929.3(GRK1):c.923T>C (p.Leu308Pro) rs753470112
NM_002929.3(GRK1):c.971del (p.Leu324fs) rs2049858551

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