ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499 0.03355
NM_006343.3(MERTK):c.472G>A (p.Ala158Thr) rs780214104 0.00006
NM_006343.3(MERTK):c.2165G>A (p.Arg722Gln) rs147779020 0.00003
NM_006343.3(MERTK):c.2785_2786dup (p.Ile930fs) rs773105686 0.00003
NM_006343.3(MERTK):c.520A>T (p.Ile174Phe) rs775179251 0.00002
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_006343.3(MERTK):c.518A>G (p.Tyr173Cys) rs771533393 0.00001
NM_006343.3(MERTK):c.2173G>C (p.Ala725Pro)
NM_006343.3(MERTK):c.2189T>G (p.Met730Arg)
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006343.3(MERTK):c.597T>A (p.Phe199Leu) rs1573591956
NM_006343.3(MERTK):c.634A>C (p.Thr212Pro) rs2104704629
NM_006343.3(MERTK):c.734C>A (p.Ser245Tyr) rs2104704713

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