List of variants reported as pathogenic for Ellis-van Creveld syndrome by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.1886+5G>T	rs794726665	0.00036
NM_153717.3(EVC):c.1694del (p.Ala565fs)	rs753014919	0.00012
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	rs121908425	0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)	rs767400887	0.00003
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)	rs121908424	0.00002
NM_153717.3(EVC):c.1777-2A>G	rs909612975	0.00001
NM_153717.3(EVC):c.2894+3A>G	rs1424976594	0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter)	rs527255616	0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	rs121908426	0.00001
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)	rs767913372
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)	rs1553873969
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	rs764397417
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)	rs1329006994
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	rs748523193
NM_153717.3(EVC):c.752dup (p.Lys252fs)	rs1553871792

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