ClinVar Miner

List of variants in gene EVC, EVC2 studied for Ellis-van Creveld syndrome

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP
NM_147127.5(EVC2):c.-15G>A	rs76269601
NM_147127.5(EVC2):c.-19T>C	rs188508515
NM_147127.5(EVC2):c.122C>A (p.Pro41His)	rs544397395
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)	rs6820907
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)	rs557830930

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