ClinVar Miner

List of variants in gene EVC2 reported as pathogenic for Ellis-van Creveld syndrome

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Total variants: 22
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EVC2, 1-BP DEL, 3660C
EVC2, 5-BP INS, NT198
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs) rs1553812417
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
NM_147127.5(EVC2):c.707-2A>G rs1302074641
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) rs137852926

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