ClinVar Miner

List of variants in gene OTC reported as benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.-359G>A rs5917573 0.69913
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000531.6(OTC):c.-365G>A rs5963030 0.13285
NM_000531.6(OTC):c.1005+1133A>G rs56125451 0.02726
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267 0.00722
NM_000531.6(OTC):c.-366A>G rs191615506 0.00354
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773 0.00018

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.