ClinVar Miner

List of variants in gene GJB2 reported as likely benign by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_004004.5(GJB2):c.-45C>A rs397516868
NM_004004.5(GJB2):c.-6T>A rs148136545
NM_004004.5(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.5(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.5(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.5(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.5(GJB2):c.78C>T (p.Thr26=) rs201848820
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188

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.