ClinVar Miner

List of variants reported for Ornithine carbamoyltransferase deficiency by Neuberg Centre For Genomic Medicine, NCGM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.368G>A (p.Ser123Asn) rs776830576 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.1009G>T (p.Val337Phe) rs72558487
NM_000531.6(OTC):c.17G>A (p.Arg6Lys) rs2519941871
NM_000531.6(OTC):c.874A>G (p.Lys292Glu) rs759069042
NM_000531.6(OTC):c.882del (p.Ala295fs) rs72558458
NM_000531.6(OTC):c.908G>T (p.Cys303Phe) rs72558464

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.