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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_003718.5(CDK13):c.2140G>C (p.Gly714Arg)	rs1057519633
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	rs1057519632
NM_003718.5(CDK13):c.2201A>C (p.Lys734Thr)	rs1784692399
NM_003718.5(CDK13):c.2209C>T (p.Arg737Cys)	rs1064796451
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln)	rs1057519634
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.2578C>T (p.Arg860Ter)	rs775898119
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala)	rs2150526768
NM_003718.5(CDK13):c.2620G>T (p.Val874Leu)
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)	rs1005618432
NM_003718.5(CDK13):c.454C>T (p.Gln152Ter)	rs1269138380
NM_003718.5(CDK13):c.484dup (p.Ala162fs)	rs1405252481
NM_003718.5(CDK13):c.930C>G (p.Tyr310Ter)

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