ClinVar Miner

List of variants in gene EVC2 reported as uncertain significance for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Total variants: 23
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HGVS dbSNP
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys)
NM_147127.5(EVC2):c.1470+3A>T rs370769794
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg)
NM_147127.5(EVC2):c.1554_1556AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys)
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser)
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala)
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg)
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg)
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677

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