ClinVar Miner

List of variants in gene OTC reported as pathogenic by Eurofins NTD LLC (GA)

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.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.205C>T (p.Gln69Ter) rs72554326
NM_000531.6(OTC):c.238A>G (p.Lys80Glu) rs72554332
NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer) rs1602029533
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.540+2T>C rs67367843
NM_000531.6(OTC):c.663+2T>C rs72558427
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076

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.