ClinVar Miner

List of variants reported as likely pathogenic by Molecular Medicine,University of Leeds

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Total variants: 19
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HGVS dbSNP
NM_002929.3(GRK1):c.1084G>A (p.Glu362Lys)
NM_002929.3(GRK1):c.1129G>C (p.Ala377Pro)
NM_002929.3(GRK1):c.1138G>T (p.Val380Phe)
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) rs777094000
NM_002929.3(GRK1):c.1172C>A (p.Pro391His) rs570621429
NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter)
NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys)
NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter) rs1594580431
NM_002929.3(GRK1):c.1411_1412del (p.Pro471fs)
NM_002929.3(GRK1):c.142_145del (p.Glu48fs)
NM_002929.3(GRK1):c.1549_1559del (p.Pro517fs)
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs)
NM_002929.3(GRK1):c.470T>C (p.Leu157Pro)
NM_002929.3(GRK1):c.55C>T (p.Arg19Ter)
NM_002929.3(GRK1):c.595G>C (p.Gly199Arg)
NM_002929.3(GRK1):c.614C>A (p.Ser205Ter)
NM_002929.3(GRK1):c.827+625_883del
NM_002929.3(GRK1):c.923T>C (p.Leu308Pro)
NM_002929.3(GRK1):c.971del (p.Leu324fs)

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