ClinVar Miner

List of variants reported as likely pathogenic for Desbuquois dysplasia 1

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Total variants: 3
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NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) rs372631124
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) rs587776896
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904

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