ClinVar Miner

List of variants in gene EVC reported as pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Total variants: 28
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HGVS dbSNP
NC_000004.12:g.(?_5797002)_(5797252_?)del
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.1257_1259delinsAGTT (p.Glu420fs)
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1387dup (p.Thr463fs)
NM_153717.3(EVC):c.155del (p.Arg52fs)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.1777-2A>G rs909612975
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.612C>A (p.Cys204Ter)
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.829C>T (p.Gln277Ter)
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs)
NM_153717.3(EVC):c.973C>T (p.Gln325Ter)

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