ClinVar Miner

List of variants in gene OTC reported as benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.77+3054A>G rs4537439 0.48094
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000531.6(OTC):c.299-8T>A rs73196229 0.15031
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.751T>C (p.Leu251=) rs36005267 0.00722
NM_000531.6(OTC):c.-366A>G rs191615506 0.00354
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402 0.00341
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554 0.00028
NM_000531.6(OTC):c.663+17C>T rs777660144 0.00024
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773 0.00018
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_000531.6(OTC):c.1006-14T>C rs188215770 0.00010
NM_000531.6(OTC):c.541-11G>A rs374923521 0.00006
NM_000531.6(OTC):c.1005+11A>T rs375524303 0.00005
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00005
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415 0.00005
NM_000531.6(OTC):c.299-7dup rs374145788 0.00004
NM_000531.6(OTC):c.498G>T (p.Leu166Phe) rs759911602 0.00004
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
NM_000531.6(OTC):c.717+11T>C rs772850466 0.00002
NM_000531.6(OTC):c.868-16A>G rs767308398 0.00002
NM_000531.6(OTC):c.147C>T (p.Thr49=) rs144153859 0.00001
NM_000531.6(OTC):c.556C>T (p.Leu186=) rs1337833268 0.00001
NM_000531.6(OTC):c.722G>A (p.Gly241Asp) rs1461226043 0.00001
NM_000531.6(OTC):c.774T>C (p.Asn258=) rs777282515 0.00001
NM_000531.6(OTC):c.1005+20T>C
NM_000531.6(OTC):c.299-8del rs764551624
NM_000531.6(OTC):c.299-8dup rs764551624
NM_000531.6(OTC):c.299-9_299-8dup
NM_000531.6(OTC):c.449C>T (p.Thr150Ile) rs766735977
NM_000531.6(OTC):c.582C>A (p.Ile194=) rs200564773
NM_000531.6(OTC):c.664-7C>T
NM_000531.6(OTC):c.717+17T>G
NM_000531.6(OTC):c.717+8C>G
NM_000531.6(OTC):c.718-18C>T rs55903043
NM_000531.6(OTC):c.863T>G (p.Met288Arg)

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.