ClinVar Miner

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

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Total variants: 16
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EVC2, 1-BP DEL, 3660C
EVC2, 5-BP INS, NT198
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.5(EVC2):c.707-2A>G rs1302074641
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.1886+5G>T rs794726665
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424
NM_153717.3(EVC):c.735del (p.Asp246fs) rs587776619
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426

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