ClinVar Miner

List of variants in gene OTOG reported as pathogenic for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter) rs866476223 0.00002
NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter) rs574007567 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs) rs1478013002 0.00001
NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter) rs2134007236
NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs) rs2134009776
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs) rs778222536
NM_001292063.2(OTOG):c.2523T>A (p.Tyr841Ter)
NM_001292063.2(OTOG):c.3546C>A (p.Tyr1182Ter)
NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter) rs1853463147
NM_001292063.2(OTOG):c.4380del (p.Thr1461fs) rs2134088808
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs) rs1029389440
NM_001292063.2(OTOG):c.6068del (p.Gly2023fs) rs1416960576
NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu) rs397514607
NM_001292063.2(OTOG):c.6453G>A (p.Trp2151Ter)
NM_001292063.2(OTOG):c.6469del (p.Leu2156_Val2157insTer)
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7686C>G (p.Tyr2562Ter)

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.