List of variants in gene EVC reported as pathogenic for Ellis-van Creveld syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	rs149898884	0.00163
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.1668C>G (p.Tyr556Ter)	rs765269619	0.00003
NM_153717.3(EVC):c.175-2A>G	rs767186464	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.2782+1G>T	rs1007534611	0.00002
NM_153717.3(EVC):c.1777-2A>G	rs909612975	0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)	rs1373632260	0.00001
NM_153717.3(EVC):c.2894+3A>G	rs1424976594	0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)	rs1017946059	0.00001
NM_153717.3(EVC):c.758C>G (p.Ser253Ter)	rs762795511	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.1327C>T (p.Arg443Ter)	rs1730760070
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs)	rs1553876034
NM_153717.3(EVC):c.1539del (p.Glu514fs)	rs759106605
NM_153717.3(EVC):c.1554dup (p.Leu519fs)	rs1553876870
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	rs764397417
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)	rs1553889992
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)	rs1329006994
NM_153717.3(EVC):c.2376del (p.Tyr793fs)	rs1577638781
NM_153717.3(EVC):c.2457del (p.Met820fs)	rs794726666
NM_153717.3(EVC):c.2561+1G>A	rs1553894457
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	rs748523193
NM_153717.3(EVC):c.37_38del (p.Arg13fs)	rs1722986802
NM_153717.3(EVC):c.735del (p.Asp246fs)	rs587776619
NM_153717.3(EVC):c.752dup (p.Lys252fs)	rs1553871792
NM_153717.3(EVC):c.801dup (p.Asp268fs)	rs777852863
NM_153717.3(EVC):c.922_923del (p.Glu308fs)	rs1729200967

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