ClinVar Miner

List of variants in gene MERTK reported as pathogenic for Retinitis pigmentosa 38

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.1605-2A>G rs730880273 0.00002
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
GRCh38/hg38 2q13(chr2:111993999-111994721)x1
NC_000002.10:g.112364620_112455677del
NG_011607.1:g.(86577_89228)_(89381_96385)del
NM_006343.2:c.-8163_c.1145-1213del
NM_006343.3(MERTK):c.1296+1G>C rs774577413
NM_006343.3(MERTK):c.1335_1336del (p.Ala446fs) rs1676689811
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.1647T>G (p.Tyr549Ter) rs1676862579
NM_006343.3(MERTK):c.1843A>T (p.Lys615Ter) rs1676926630
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs) rs775776288
NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) rs1573638426
NM_006343.3(MERTK):c.2190-1G>T rs2104423659
NM_006343.3(MERTK):c.2190-2A>G rs2104423657
NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter) rs387907314
NM_006343.3(MERTK):c.2486+1G>A rs1309140887
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) rs746291728
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_006343.3(MERTK):c.584-1G>T rs1553449458
NM_006343.3(MERTK):c.61+1G>A rs1573554264

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