ClinVar Miner

List of variants in gene MERTK reported as uncertain significance for Retinal dystrophy

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2305A>G (p.Ile769Val) rs147899488 0.00045
NM_006343.3(MERTK):c.2726G>A (p.Arg909His) rs149131360 0.00031
NM_006343.3(MERTK):c.791C>G (p.Ala264Gly) rs199779970 0.00031
NM_006343.3(MERTK):c.2612T>C (p.Ile871Thr) rs377341255 0.00012
NM_006343.3(MERTK):c.1334G>A (p.Arg445Gln) rs202242962 0.00006
NM_006343.3(MERTK):c.2209G>C (p.Val737Leu) rs142721656 0.00006
NM_006343.3(MERTK):c.500G>A (p.Arg167His) rs781470358 0.00006
NM_006343.3(MERTK):c.1894G>A (p.Glu632Lys) rs376129675 0.00004
NM_006343.3(MERTK):c.2060G>A (p.Arg687Gln) rs775443181 0.00004
NM_006343.3(MERTK):c.263C>T (p.Ser88Leu) rs372527246 0.00004
NM_006343.3(MERTK):c.1441C>T (p.Pro481Ser) rs781442827 0.00003
NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr) rs878853353 0.00003
NM_006343.3(MERTK):c.61+3G>C rs746981720 0.00003
NM_006343.3(MERTK):c.1691T>C (p.Leu564Ser) rs200794038 0.00002
NM_006343.3(MERTK):c.2159T>C (p.Leu720Pro) rs756205527 0.00002
NM_006343.3(MERTK):c.2486+6T>A rs772204397 0.00002
NM_006343.3(MERTK):c.1682A>G (p.Glu561Gly) rs753090513 0.00001
NM_006343.3(MERTK):c.2273G>A (p.Arg758His) rs370526555 0.00001
NM_006343.3(MERTK):c.2362G>A (p.Val788Met) rs769691218 0.00001
NM_006343.3(MERTK):c.2725C>T (p.Arg909Cys) rs758693335 0.00001
NM_006343.3(MERTK):c.842A>C (p.Lys281Thr) rs1374202092 0.00001
NM_006343.3(MERTK):c.877C>T (p.Arg293Cys) rs369655379 0.00001
NM_006343.3(MERTK):c.1232A>G (p.Lys411Arg)
NM_006343.3(MERTK):c.1341G>T (p.Arg447=)
NM_006343.3(MERTK):c.1358A>G (p.His453Arg)
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe) rs79943145
NM_006343.3(MERTK):c.1490G>A (p.Gly497Asp)
NM_006343.3(MERTK):c.1546G>A (p.Gly516Arg)
NM_006343.3(MERTK):c.1670G>C (p.Arg557Pro) rs374078768
NM_006343.3(MERTK):c.1866G>C (p.Lys622Asn) rs775460185
NM_006343.3(MERTK):c.2039A>C (p.His680Pro) rs749028235
NM_006343.3(MERTK):c.2051T>C (p.Leu684Pro)
NM_006343.3(MERTK):c.2060G>T (p.Arg687Leu) rs775443181
NM_006343.3(MERTK):c.2163T>A (p.His721Gln) rs749472520
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.2354C>T (p.Ala785Val)
NM_006343.3(MERTK):c.2380G>T (p.Ala794Ser)
NM_006343.3(MERTK):c.2435A>G (p.Tyr812Cys) rs141361084
NM_006343.3(MERTK):c.2518G>A (p.Asp840Asn)
NM_006343.3(MERTK):c.2654C>T (p.Ala885Val)
NM_006343.3(MERTK):c.2710_2715del (p.Ala904_Ser905del)
NM_006343.3(MERTK):c.2775T>C (p.His925=) rs1677519296
NM_006343.3(MERTK):c.2796T>C (p.Asn932=)
NM_006343.3(MERTK):c.2836T>G (p.Ser946Ala) rs1677520867
NM_006343.3(MERTK):c.2973C>T (p.Ser991=)
NM_006343.3(MERTK):c.343T>G (p.Cys115Gly)
NM_006343.3(MERTK):c.732A>G (p.Lys244=)

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