ClinVar Miner

List of variants in gene OTC reported as likely benign for Ornithine carbamoyltransferase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000531.6(OTC):c.*106G>A rs766318571
NM_000531.6(OTC):c.-48G>T rs182454762
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328

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.