ClinVar Miner

List of variants in gene GJB2 reported as pathogenic for Deafness, autosomal dominant 3a

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
NM_004004.6(GJB2):c.122_124AGG[1] (p.Glu42del) rs1566528901
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) rs104894413
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) rs104894407
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn) rs1064797088
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn) rs1064797089
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala) rs1064797090
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) rs28931595
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190

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.