ClinVar Miner

List of variants in gene OTOG reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) rs554847663
NM_001277269.1(OTOG):c.330C>G (p.Tyr110Ter) rs574007567
NM_001277269.1(OTOG):c.3700C>T (p.Arg1234Ter) rs560339163
NM_001277269.1(OTOG):c.5092C>T (p.Gln1698Ter) rs930688767
NM_001277269.1(OTOG):c.5508del (p.Ala1838fs) rs1029389440
NM_001277269.1(OTOG):c.6347C>T (p.Pro2116Leu) rs397514607
NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter) rs397514608
NM_001277269.1(OTOG):c.7235del (p.Cys2412fs) rs1565127413
NM_001277269.1(OTOG):c.7453C>T (p.Arg2485Ter) rs866476223
NM_001277269.2(OTOG):c.468del (p.Gln157fs)
NM_001292063.1(OTOG):c.499del (p.Val167fs) rs876657657

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.