ClinVar Miner

List of variants reported as likely pathogenic for Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

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Total variants: 3
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HGVS dbSNP
NM_003718.5(CDK13):c.181del (p.Leu61fs) rs1554317002
NM_003718.5(CDK13):c.2246C>A (p.Ala749Glu) rs1562722163
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853

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