ClinVar Miner

List of variants in gene GJB1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.*117C>T rs41307256 0.03266
NM_000166.6(GJB1):c.-17+116C>T rs111853447 0.02274
NM_000166.6(GJB1):c.*163G>T rs139775308 0.02210
NM_000166.6(GJB1):c.*34C>A rs113014279 0.02074
NM_000166.6(GJB1):c.-77G>A rs190676487 0.00500
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_001097642.3(GJB1):c.-16-697G>A rs6525485

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.