ClinVar Miner

List of variants studied for Ellis-van Creveld syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_147127.5(EVC2):c.1739del (p.Phe580fs)
NM_147127.5(EVC2):c.2335G>T (p.Glu779Ter)
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)

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