ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.