ClinVar Miner

List of variants in gene MERTK reported by GeneDx

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.1397G>A (p.Arg466Lys) rs7604639 0.62439
NM_006343.3(MERTK):c.757+13T>C rs3761701 0.58627
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn) rs13027171 0.20460
NM_006343.3(MERTK):c.1894G>A (p.Glu632Lys) rs376129675 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.2368A>G (p.Met790Val) rs138971326 0.00002
NM_006343.3(MERTK):c.1787-2A>T rs978833430 0.00001
NM_006343.3(MERTK):c.188T>C (p.Leu63Ser) rs140848545 0.00001
NM_006343.3(MERTK):c.225del (p.Gly76fs) rs527236083 0.00001
NM_006343.3(MERTK):c.2020A>G (p.Met674Val) rs2104413016
NM_006343.3(MERTK):c.2059C>T (p.Arg687Ter) rs1553458060
NM_006343.3(MERTK):c.2214del (p.Cys738fs) rs886039422
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs) rs1342715176

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