ClinVar Miner

List of variants in gene EVC reported as pathogenic for Short rib-polydactyly syndrome, Majewski type

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Total variants: 4
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NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1886+5G>T rs794726665
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del) rs755381180

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