ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NC_000013.11:g.20189302G>A
NM_004004.5(GJB2):c.-208G>T rs1555342246
NM_004004.6(GJB2):c.-127G>C rs727503068
NM_004004.6(GJB2):c.-30C>T rs397516867
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361
NM_004004.6(GJB2):c.281A>T (p.His94Leu) rs397516872
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly) rs111033441
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.470T>C (p.Met157Thr) rs727504789
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys) rs28929485
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) rs199790409
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.677T>G (p.Val226Gly) rs773846324

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.