ClinVar Miner

List of variants studied for Ellis-van Creveld syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.229-1G>T	rs1214848359	0.00001
NM_147127.5(EVC2):c.30dup (p.Thr11fs)	rs1442303442

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