ClinVar Miner

List of variants studied for Ellis-van Creveld syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008

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