ClinVar Miner

List of variants in gene MERTK reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827 0.00075
NM_006343.3(MERTK):c.2305A>G (p.Ile769Val) rs147899488 0.00045
NM_006343.3(MERTK):c.98C>T (p.Pro33Leu) rs144751432 0.00033
NM_006343.3(MERTK):c.791C>G (p.Ala264Gly) rs199779970 0.00031
NM_006343.3(MERTK):c.1216A>G (p.Met406Val) rs377752022 0.00012
NM_006343.3(MERTK):c.2069C>T (p.Thr690Ile) rs139822416 0.00012
NM_006343.3(MERTK):c.1998G>T (p.Lys666Asn) rs757089087 0.00009
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.659C>G (p.Ala220Gly) rs146962542 0.00004
NM_006343.3(MERTK):c.1441C>T (p.Pro481Ser) rs781442827 0.00003
NM_006343.3(MERTK):c.526A>C (p.Lys176Gln) rs776424157 0.00002
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
NM_006343.3(MERTK):c.2360G>A (p.Gly787Asp) rs747894786 0.00001
NC_000002.12:g.(111929541_111944959)_(112028.865_?)del
NM_006343.3(MERTK):c.1296+2T>G
NM_006343.3(MERTK):c.1372A>G (p.Thr458Ala)
NM_006343.3(MERTK):c.1684C>T (p.Leu562Phe) rs1338782600
NM_006343.3(MERTK):c.1710_1713del (p.Ser570fs)
NM_006343.3(MERTK):c.1724del (p.Asn575fs) rs1187387547
NM_006343.3(MERTK):c.1787-2A>C
NM_006343.3(MERTK):c.1868T>C (p.Leu623Ser) rs780007963
NM_006343.3(MERTK):c.1921A>G (p.Met641Val)
NM_006343.3(MERTK):c.1960+1G>A
NM_006343.3(MERTK):c.2086C>T (p.Pro696Ser)
NM_006343.3(MERTK):c.2092C>A (p.Gln698Lys)
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter) rs387907314
NM_006343.3(MERTK):c.2350-2A>C
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006343.3(MERTK):c.2486+1G>A rs1309140887
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) rs746291728
NM_006343.3(MERTK):c.2531G>A (p.Arg844His)
NM_006343.3(MERTK):c.2926C>T (p.Pro976Ser)
NM_006343.3(MERTK):c.515C>G (p.Ser172Trp) rs143570667
NM_006343.3(MERTK):c.564C>T (p.Pro188=)
NM_006343.3(MERTK):c.773C>T (p.Ala258Val) rs35252762
NM_006343.3(MERTK):c.85G>T (p.Ala29Ser)

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