List of variants in gene OTC reported as benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.-359G>A	rs5917573	0.69913
NM_000531.5(OTC):c.-661C>T	rs5963412	0.69728
NC_000023.11:g.38352256A>G	rs5917572	0.69636
NM_000531.5(OTC):c.-646G>A	rs5963413	0.69374
NM_000531.6(OTC):c.1005+941T>C	rs5963419	0.51422
NM_000531.6(OTC):c.540+134G>A	rs2272721	0.50403
NM_000531.6(OTC):c.541-172_541-170dup	rs3047852	0.46548
NM_000531.6(OTC):c.541-63G>A	rs2235125	0.46334
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)	rs1800321	0.26575
NM_000531.6(OTC):c.541-305A>G	rs6609709	0.22819
NM_000531.6(OTC):c.1006-70C>T	rs12557315	0.18742
NM_000531.6(OTC):c.664-220G>A	rs1554993	0.13567
NM_000531.6(OTC):c.-365G>A	rs5963030	0.13391
NM_000531.6(OTC):c.540+455A>G	rs12855364	0.11984
NM_000531.6(OTC):c.718-14T>C	rs55722856	0.05854
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	rs1800328	0.02868
NM_000531.6(OTC):c.1005+1133A>G	rs56125451	0.02726
NM_000531.6(OTC):c.867+35T>G	rs62622415	0.02489
NM_000531.6(OTC):c.217-200G>A	rs7064359	0.02350
NM_000531.6(OTC):c.78-233G>C	rs148036282	0.02237
NM_000531.6(OTC):c.867+905T>C	rs144339942	0.02205
NM_000531.6(OTC):c.540+203C>A	rs7057582	0.01817
NM_000531.6(OTC):c.540+489A>G	rs148514349	0.01609
NM_000531.6(OTC):c.751T>C (p.Leu251=)	rs36005267	0.00722
NM_000531.6(OTC):c.429T>C (p.Tyr143=)	rs145777402	0.00317
NM_000531.6(OTC):c.298+5G>C	rs72554348	0.00069
NM_000531.6(OTC):c.299-18C>T	rs5917586	0.00006
NC_000023.11:g.38352178TTCT[1]	rs57752938
NM_000531.6(OTC):c.1005+132dup	rs3215429
NM_000531.6(OTC):c.216+280ATTT[7]	rs200633699
NM_000531.6(OTC):c.217-265del	rs11313102
NM_000531.6(OTC):c.217-266_217-265del	rs11313102
NM_000531.6(OTC):c.299-34dup	rs398122026
NM_000531.6(OTC):c.664-287C>T	rs141787318
NM_000531.6(OTC):c.78-103dup	rs755821521
NM_000531.6(OTC):c.868-182dup	rs368534980

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.