ClinVar Miner

List of variants reported as pathogenic for Vertebral, cardiac, renal, and limb defects syndrome 3 by Embryology Laboratory, Victor Chang Cardiac Research Institute

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg) rs769220327 0.00001
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669

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.