ClinVar Miner

List of variants in gene GJB1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001097642.3(GJB1):c.-16-613C>T rs185380563 0.00727
NM_000166.6(GJB1):c.-77G>A rs190676487 0.00500
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_000166.6(GJB1):c.-6G>A rs201344743 0.00043
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021 0.00018
NM_000166.6(GJB1):c.36C>T (p.Gly12=) rs756086307 0.00014
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_000166.6(GJB1):c.-101C>T rs961829342 0.00008
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820 0.00006
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240 0.00006
NM_000166.6(GJB1):c.671G>A (p.Arg224His) rs201697702 0.00006
NM_000166.6(GJB1):c.627G>T (p.Val209=) rs376113695 0.00005
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984 0.00004
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser) rs781312706 0.00004
NM_000166.6(GJB1):c.297A>G (p.Gln99=) rs1213746899 0.00003
NM_000166.6(GJB1):c.318A>G (p.Leu106=) rs754804402 0.00003
NM_000166.6(GJB1):c.414C>T (p.Ser138=) rs1317916250 0.00003
NM_000166.6(GJB1):c.438G>A (p.Glu146=) rs776798195 0.00003
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247 0.00003
NM_000166.6(GJB1):c.574G>A (p.Val192Ile) rs771579861 0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
NM_000166.6(GJB1):c.768T>C (p.Asp256=) rs1248389821 0.00003
NM_000166.6(GJB1):c.78G>A (p.Ser26=) rs749174507 0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 0.00003
NM_000166.6(GJB1):c.-27C>T rs879254157 0.00002
NM_000166.6(GJB1):c.354G>A (p.Glu118=) rs1174424501 0.00002
NM_000166.6(GJB1):c.522C>T (p.Pro174=) rs1271866184 0.00002
NM_000166.6(GJB1):c.564C>T (p.Thr188=) rs746270194 0.00002
NM_000166.6(GJB1):c.699G>A (p.Ser233=) rs769112084 0.00002
NM_000166.6(GJB1):c.108G>C (p.Leu36=) rs149350998 0.00001
NM_000166.6(GJB1):c.120A>G (p.Ala40=) rs1481496306 0.00001
NM_000166.6(GJB1):c.126T>C (p.Ser42=) rs1184846357 0.00001
NM_000166.6(GJB1):c.165A>G (p.Thr55=) rs1173034334 0.00001
NM_000166.6(GJB1):c.183C>T (p.Asn61=) rs1364055284 0.00001
NM_000166.6(GJB1):c.21C>T (p.Tyr7=) rs2092541958 0.00001
NM_000166.6(GJB1):c.261A>G (p.Pro87=) rs376994837 0.00001
NM_000166.6(GJB1):c.282C>T (p.His94=) rs756000896 0.00001
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098 0.00001
NM_000166.6(GJB1):c.501G>A (p.Lys167=) rs766201464 0.00001
NM_000166.6(GJB1):c.510C>G (p.Val170=) rs758610223 0.00001
NM_000166.6(GJB1):c.546C>T (p.Ser182=) rs781639935 0.00001
NM_000166.6(GJB1):c.606C>T (p.Ile202=) rs1323117815 0.00001
NM_000166.6(GJB1):c.69A>G (p.Val23=) rs780076535 0.00001
NM_000166.6(GJB1):c.705C>T (p.Phe235=) rs760150310 0.00001
NM_000166.6(GJB1):c.732G>A (p.Lys244=) rs1198937821 0.00001
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000166.6(GJB1):c.807C>T (p.Thr269=) rs750620543 0.00001
NM_000166.6(GJB1):c.*15C>T rs1057520778
NM_000166.6(GJB1):c.*18C>G rs2092547149
NM_000166.6(GJB1):c.-109C>T
NM_000166.6(GJB1):c.-16-4G>T
NM_000166.6(GJB1):c.-16-82G>C rs192195270
NM_000166.6(GJB1):c.108G>T (p.Leu36=) rs149350998
NM_000166.6(GJB1):c.129G>A (p.Val43=) rs2147945183
NM_000166.6(GJB1):c.135T>G (p.Gly45=) rs1602348813
NM_000166.6(GJB1):c.147T>C (p.Ser49=) rs2092542885
NM_000166.6(GJB1):c.162C>T (p.Asn54=) rs2147945331
NM_000166.6(GJB1):c.171G>A (p.Gln57=) rs1602348875
NM_000166.6(GJB1):c.198C>T (p.Asp66=)
NM_000166.6(GJB1):c.201A>G (p.Gln67=)
NM_000166.6(GJB1):c.216C>G (p.Ser72=)
NM_000166.6(GJB1):c.216C>T (p.Ser72=)
NM_000166.6(GJB1):c.228G>A (p.Leu76=)
NM_000166.6(GJB1):c.270C>G (p.Leu90=) rs938061009
NM_000166.6(GJB1):c.270C>T (p.Leu90=) rs938061009
NM_000166.6(GJB1):c.294G>A (p.Gln98=) rs2147945792
NM_000166.6(GJB1):c.300C>T (p.His100=)
NM_000166.6(GJB1):c.309G>A (p.Lys103=)
NM_000166.6(GJB1):c.30C>G (p.Leu10=)
NM_000166.6(GJB1):c.327G>A (p.Glu109=)
NM_000166.6(GJB1):c.33T>C (p.Ser11=) rs2147944838
NM_000166.6(GJB1):c.345A>G (p.Leu115=) rs2092544200
NM_000166.6(GJB1):c.360G>A (p.Val120=) rs747185844
NM_000166.6(GJB1):c.363G>A (p.Lys121=) rs1341256650
NM_000166.6(GJB1):c.364A>C (p.Arg122=)
NM_000166.6(GJB1):c.36C>A (p.Gly12=) rs756086307
NM_000166.6(GJB1):c.375C>T (p.Val125=) rs2092544353
NM_000166.6(GJB1):c.378C>T (p.His126=) rs2147945987
NM_000166.6(GJB1):c.384A>G (p.Ser128=)
NM_000166.6(GJB1):c.393G>A (p.Leu131=) rs2092544471
NM_000166.6(GJB1):c.402C>G (p.Thr134=)
NM_000166.6(GJB1):c.405T>C (p.Tyr135=)
NM_000166.6(GJB1):c.420G>A (p.Val140=) rs2147946113
NM_000166.6(GJB1):c.423C>T (p.Phe141=)
NM_000166.6(GJB1):c.430T>C (p.Leu144=)
NM_000166.6(GJB1):c.480T>C (p.Tyr160=)
NM_000166.6(GJB1):c.483C>T (p.Ala161=) rs1602349458
NM_000166.6(GJB1):c.489G>A (p.Val163=)
NM_000166.6(GJB1):c.519C>T (p.Cys173=) rs2092545291
NM_000166.6(GJB1):c.54T>C (p.Thr18=)
NM_000166.6(GJB1):c.555C>T (p.Thr185=) rs1342096912
NM_000166.6(GJB1):c.564C>G (p.Thr188=)
NM_000166.6(GJB1):c.573C>T (p.Thr191=) rs776040132
NM_000166.6(GJB1):c.579C>T (p.Phe193=)
NM_000166.6(GJB1):c.591C>T (p.Ala197=)
NM_000166.6(GJB1):c.633C>T (p.Tyr211=) rs1569215443
NM_000166.6(GJB1):c.639C>T (p.Ile213=) rs2147946992
NM_000166.6(GJB1):c.642C>T (p.Ile214=)
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln) rs1057524799
NM_000166.6(GJB1):c.675C>T (p.Ser225=)
NM_000166.6(GJB1):c.681A>T (p.Pro227=) rs2092546281
NM_000166.6(GJB1):c.699G>C (p.Ser233=)
NM_000166.6(GJB1):c.702C>T (p.Gly234=)
NM_000166.6(GJB1):c.711C>T (p.His237=)
NM_000166.6(GJB1):c.717C>G (p.Leu239=) rs2147947208
NM_000166.6(GJB1):c.744C>A (p.Ile248=) rs2147947224
NM_000166.6(GJB1):c.759T>C (p.Ser253=)
NM_000166.6(GJB1):c.75C>G (p.Leu25=) rs1602348670
NM_000166.6(GJB1):c.762G>A (p.Glu254=)
NM_000166.6(GJB1):c.804C>T (p.Gly268=)
NM_000166.6(GJB1):c.816G>A (p.Gly272=)
NM_000166.6(GJB1):c.81C>T (p.Val27=)
NM_000166.6(GJB1):c.825A>G (p.Glu275=)
NM_000166.6(GJB1):c.831C>T (p.Ser277=) rs1444755256
NM_000166.6(GJB1):c.837C>G (p.Arg279=)
NM_000166.6(GJB1):c.837C>T (p.Arg279=) rs2092546981
NM_000166.6(GJB1):c.93C>T (p.Phe31=) rs1602348714
NM_000166.6(GJB1):c.99C>T (p.Ile33=) rs2092542459

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.