ClinVar Miner

List of variants in gene OTOP2, USH1G studied for Usher syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_173477.5(USH1G):c.-173G>C rs570755897
NM_173477.5(USH1G):c.-2C>T rs758940726
NM_173477.5(USH1G):c.-76A>G
NM_173477.5(USH1G):c.-8C>T rs769903865
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) rs104894652
NM_173477.5(USH1G):c.46C>G (p.Leu16Val) rs876657419
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362

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.