ClinVar Miner

List of variants studied for Ellis-van Creveld syndrome by Centre for Genomic and Experimental Medicine,University of Edinburgh

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Total variants: 2
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HGVS dbSNP
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764

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