List of variants in gene OTC reported as uncertain significance for not provided

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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)	rs140046498	0.00009
NM_000531.6(OTC):c.626C>G (p.Ala209Gly)	rs72558417	0.00009
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)	rs1057515879	0.00002
NM_000531.6(OTC):c.808C>G (p.Gln270Glu)	rs72558451	0.00002
NM_000531.6(OTC):c.374C>T (p.Thr125Met)	rs72554356	0.00001
NM_000531.6(OTC):c.520G>A (p.Ala174Thr)	rs72556281	0.00001
NM_000531.6(OTC):c.847G>C (p.Gly283Arg)	rs2068530349	0.00001
NM_000531.5(OTC):c.-106C>A	rs749748052
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)	rs1569282905
NM_000531.6(OTC):c.122A>T (p.Asp41Val)	rs74518351
NM_000531.6(OTC):c.197G>A (p.Arg66Lys)
NM_000531.6(OTC):c.322C>G (p.Pro108Ala)
NM_000531.6(OTC):c.354G>A (p.Leu118=)	rs1057518540
NM_000531.6(OTC):c.363T>A (p.Asn121Lys)
NM_000531.6(OTC):c.382G>C (p.Ala128Pro)	rs886043507
NM_000531.6(OTC):c.433C>A (p.Gln145Lys)	rs753584565
NM_000531.6(OTC):c.470T>C (p.Ile157Thr)	rs1569279421
NM_000531.6(OTC):c.572T>G (p.Leu191Arg)	rs72556297
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)	rs72558410
NM_000531.6(OTC):c.650C>G (p.Ala217Gly)	rs72558424
NM_000531.6(OTC):c.662A>G (p.Lys221Arg)
NM_000531.6(OTC):c.713A>G (p.Lys238Arg)
NM_000531.6(OTC):c.725C>A (p.Thr242Asn)	rs72558435
NM_000531.6(OTC):c.868-3T>C	rs398123459
NM_000531.6(OTC):c.870T>C (p.Thr290=)	rs794727959
NM_000531.6(OTC):c.874A>G (p.Lys292Glu)	rs759069042

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.