ClinVar Miner

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

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Total variants: 45
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HGVS dbSNP
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
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1554dup (p.Leu519fs) rs1553876870
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1886+5G>T rs794726665
NM_153717.3(EVC):c.2376del (p.Tyr793fs) rs1577638781
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424
NM_153717.3(EVC):c.2782+1G>T rs1007534611
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.735del (p.Asp246fs) rs587776619
NM_153717.3(EVC):c.758C>G (p.Ser253Ter) rs762795511
NM_153717.3(EVC):c.801dup (p.Asp268fs) rs777852863
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426
NM_153717.3(EVC):c.922_923del (p.Glu308fs)

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