ClinVar Miner

List of variants in gene MERTK reported as likely pathogenic for Retinal dystrophy

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Total variants: 13
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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.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_006343.3(MERTK):c.1650del (p.Ile550fs) rs1252719064 0.00001
NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter) rs774755041 0.00001
NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys) rs757858711 0.00001
NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del
NM_006343.3(MERTK):c.1296+2dup rs1681147109
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs) rs775776288
NM_006343.3(MERTK):c.2164C>G (p.Arg722Gly) rs541717028
NM_006343.3(MERTK):c.2189_2189+7delinsGGGGA rs1677289241
NM_006343.3(MERTK):c.368_369del (p.Tyr123fs) rs1684627892
NM_006343.3(MERTK):c.604C>T (p.Gln202Ter) rs1684979540
NM_006343.3(MERTK):c.933_935delinsTT (p.Pro313fs) rs878853355

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