ClinVar Miner

List of variants in gene MERTK studied for Autosomal recessive retinitis pigmentosa

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
NM_006343.2:c.(1144+1_1145-1)_(1296+1_1297-1)del
NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs) rs776644374
NM_006343.3(MERTK):c.1335_1336del (p.Ala446fs) rs1676689811
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.2079+2T>G rs1677065097
NM_006343.3(MERTK):c.2194C>T (p.Arg732Ter)
NM_006343.3(MERTK):c.2214del (p.Cys738fs) rs886039422
NM_006343.3(MERTK):c.2219C>T (p.Ala740Val) rs911057284
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter) rs387907314
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533

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