ClinVar Miner

List of variants in gene EVC reported as likely benign for Chondroectodermal dysplasia; Curry-Hall syndrome

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Gene type:
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Total variants: 3
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HGVS dbSNP
NM_153717.2(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.2(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.2(EVC):c.549C>T (p.Ser183=) rs201071908

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