List of variants in gene combination EVC, LOC129992144 reported as uncertain significance 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.-35C>A	rs546318095	0.00314
NM_153717.3(EVC):c.-36G>A	rs577263762	0.00278
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)	rs756852655	0.00191
NM_153717.3(EVC):c.-20C>A	rs991444136	0.00012

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