List of variants in gene combination EVC, LOC129992144 reported as pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
NM_153717.3(EVC):c.16del (p.Ala6fs)	rs2151766718
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)	rs1553857828
NM_153717.3(EVC):c.25A>T (p.Lys9Ter)	rs1425513399

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