ClinVar Miner

List of variants reported as not provided for Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003718.5(CDK13):c.2200A>G (p.Lys734Glu) rs1064795731
NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg) rs1784692399
NM_003718.5(CDK13):c.2511T>G (p.Asp837Glu) rs759838977
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2898-1G>A rs1786599399
NM_003718.5(CDK13):c.2957G>A (p.Arg986His)

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