ClinVar Miner

List of variants in gene combination EVC, EVC2 reported as benign for Ellis-van Creveld syndrome; Curry-Hall 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)	rs6820907	0.17921
NM_147127.5(EVC2):c.122C>A (p.Pro41His)	rs544397395	0.00286

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