ClinVar Miner

List of variants reported as uncertain significance for Ellis-van Creveld syndrome; Curry-Hall syndrome by Invitae

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Total variants: 44
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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.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.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
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile)
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973
NM_153717.3(EVC):c.2335G>A (p.Val779Ile)
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln)
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser)
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.568C>T (p.Arg190Cys)
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610

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