ClinVar Miner

List of variants in gene GJB2 reported as pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
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.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) rs772264564
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165
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.