ClinVar Miner

Variants in gene GJB2 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
405 106 1 100 18 0 54 149

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 83 25 2 0
likely pathogenic 83 0 40 0 1
uncertain significance 25 40 0 17 7
likely benign 2 0 17 0 17
benign 0 1 7 17 0

All variants with conflicting interpretations #

Total variants: 149
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02617
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_004004.6(GJB2):c.-23+12G>A rs397516866 0.00541
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00414
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00149
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00140
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004004.6(GJB2):c.-23G>T rs786204734 0.00090
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00062
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00019
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882 0.00015
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00015
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00015
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00011
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627 0.00004
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00003
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00003
NM_004004.6(GJB2):c.208C>G (p.Pro70Ala) rs200023879 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004004.6(GJB2):c.-22-1G>A rs551625098 0.00001
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp) rs535635403 0.00001
NM_004004.6(GJB2):c.128T>C (p.Val43Ala) rs776267945 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.32_45del (p.Gly11fs) rs1290698257 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690 0.00001
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401 0.00001
NM_004004.6(GJB2):c.500T>C (p.Val167Ala) rs201983374 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) rs786204597 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004004.6(GJB2):c.628T>C (p.Leu210=) rs1036073348 0.00001
NM_004004.6(GJB2):c.98T>C (p.Ile33Thr) rs575453513 0.00001
NC_000013.11:g.20193020G>A rs886037626
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.104T>G (p.Ile35Ser) rs756467247
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly) rs111033296
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys) rs104894398
NM_004004.6(GJB2):c.155_158del (p.Val52fs) rs2500252635
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) rs104894410
NM_004004.6(GJB2):c.176G>T (p.Gly59Val) rs104894404
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter) rs763572195
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) rs104894403
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs) rs886037625
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
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.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.3G>A (p.Met1Ile) rs2500253846
NM_004004.6(GJB2):c.440A>G (p.Glu147Gly) rs1959057808
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys) rs776335807
NM_004004.6(GJB2):c.523_533del (p.Pro175fs) rs876657693
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) rs1451982228
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.585G>A (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.585G>T (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.604T>C (p.Cys202Arg) rs1959055512
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.93del (p.Arg32fs) rs1959062825
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>C (p.Arg32Pro)
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401

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