ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance for Keratitis-Ichthyosis-Deafness Syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*423C>T rs112457424
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*598C>A rs550600399
NM_004004.6(GJB2):c.*800A>G rs886050027
NM_004004.6(GJB2):c.*979A>G rs546826225
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946

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.