ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_004004.6(GJB2):c.-112A>C rs1555342240
NM_004004.6(GJB2):c.-127G>C rs727503068
NM_004004.6(GJB2):c.-12C>T rs1959064381
NM_004004.6(GJB2):c.-170C>G rs1006263046
NM_004004.6(GJB2):c.-22-18T>A rs778602324
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.-22-7T>C rs372197957
NM_004004.6(GJB2):c.-47C>G rs1555342239
NM_004004.6(GJB2):c.111_113del (p.Val38del) rs1959062436
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.221T>C (p.Ile74Thr) rs1959060919
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.280C>T (p.His94Tyr) rs1593351383
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.302AGA[2] (p.Lys103del) rs1555341934
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023
NM_004004.6(GJB2):c.362T>C (p.Ile121Thr) rs1959058587
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser) rs116769964
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys) rs111033401

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.