ClinVar Miner

Variants in gene GJB1 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:
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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 Variants with at least 2 submissions 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 kind of conflict
358 26 9 15 3 0 65 76

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 9 10 44 2 2
likely pathogenic 10 0 25 0 0
uncertain significance 44 25 0 3 1
likely benign 2 0 3 0 5
benign 2 0 1 5 0

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP
NM_000166.5(GJB1):c.-17G>A rs879254047
NM_000166.5(GJB1):c.-27C>T rs879254157
NM_000166.5(GJB1):c.-77G>A rs190676487
NM_000166.5(GJB1):c.100A>G (p.Met34Val)
NM_000166.5(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.5(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.5(GJB1):c.113T>G (p.Val38Gly) rs863224612
NM_000166.5(GJB1):c.116C>T (p.Ala39Val) rs786204095
NM_000166.5(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.5(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.5(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.5(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.5(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.5(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.5(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.5(GJB1):c.178T>C (p.Cys60Arg) rs1060501004
NM_000166.5(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.5(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.5(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.5(GJB1):c.225delG (p.Leu76Cysfs) rs116840820
NM_000166.5(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.5(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.5(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.5(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.5(GJB1):c.282C>A (p.His94Gln) rs756000896
NM_000166.5(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.5(GJB1):c.297A>G (p.Gln99=) rs1213746899
NM_000166.5(GJB1):c.304_306delGAG (p.Glu102del) rs1555937135
NM_000166.5(GJB1):c.305A>G (p.Glu102Gly) rs779696968
NM_000166.5(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.5(GJB1):c.34G>A (p.Gly12Ser) rs1555936999
NM_000166.5(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.5(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.5(GJB1):c.394T>C (p.Trp132Arg)
NM_000166.5(GJB1):c.394_395delTG (p.Trp132Valfs) rs1555937168
NM_000166.5(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.5(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.5(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.5(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.5(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.5(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.5(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.5(GJB1):c.491G>A (p.Arg164Gln) rs1241595912
NM_000166.5(GJB1):c.515C>T (p.Pro172Leu) rs1555937218
NM_000166.5(GJB1):c.524dup (p.Asn175Lysfs)
NM_000166.5(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.5(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.5(GJB1):c.542T>A (p.Val181Glu) rs876661252
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.5(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.5(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.5(GJB1):c.556G>T (p.Glu186Ter) rs116840821
NM_000166.5(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.5(GJB1):c.590C>T (p.Ala197Val)
NM_000166.5(GJB1):c.610C>A (p.Leu204Ile) rs1064795540
NM_000166.5(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.5(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.5(GJB1):c.633C>A (p.Tyr211Ter)
NM_000166.5(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.5(GJB1):c.644G>C (p.Arg215Pro) rs864622215
NM_000166.5(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.5(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.5(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_000166.5(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.5(GJB1):c.77C>G (p.Ser26Trp) rs587777876
NM_000166.5(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.5(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000166.5(GJB1):c.8G>A (p.Trp3Ter) rs1555936989
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_001097642.2(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_001097642.2(GJB1):c.324dup (p.Glu109Terfs) rs1555937143
NM_001097642.2(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823

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