ClinVar Miner

List of variants reported as likely pathogenic for Congenital NAD deficiency disorder by Embryology Laboratory, Victor Chang Cardiac Research Institute

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003937.3(KYNU):c.616G>A (p.Glu206Lys) rs765122670 0.00002
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg) rs771131526
NM_003937.3(KYNU):c.361_363del (p.Lys121del) rs767060858

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.