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: 9
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NM_003718.5(CDK13):c.181del (p.Leu61fs) rs1554317002
NM_003718.5(CDK13):c.2194G>A (p.Ala732Thr) rs1583972803
NM_003718.5(CDK13):c.2246C>A (p.Ala749Glu) rs1562722163
NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter)
NM_003718.5(CDK13):c.2510A>G (p.Asp837Gly)
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_003718.5(CDK13):c.2570G>A (p.Gly857Glu) rs1584035995
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)
NM_003718.5(CDK13):c.806del (p.Ser269fs) rs1583893433
