ClinVar Miner

List of variants studied for Ellis-van Creveld syndrome by Invitae

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Total variants: 4
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HGVS dbSNP
NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs) rs1553812417
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225

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