ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP
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.1369G>A (p.Glu457Lys) rs141859946
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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