ClinVar Miner

List of variants reported as likely pathogenic for Chondroectodermal dysplasia; Curry-Hall syndrome

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Total variants: 4
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HGVS dbSNP
NM_147127.4(EVC2):c.2047-2A>G rs1553833239
NM_147127.4(EVC2):c.3659+2T>C rs200300612
NM_153717.2(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.2(EVC):c.904_906delAAG (p.Lys302del) rs755381180

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