ClinVar Miner

Variants in gene GLB1 with conflicting interpretations

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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:
ClinVar version:

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
92 44 0 32 1 0 11 42

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 0 26 8 0 0
likely pathogenic 26 0 5 0 0
uncertain significance 8 5 0 1 0
likely benign 0 0 1 0 6
benign 0 0 0 6 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_000404.2(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.2(GLB1):c.1646C>T (p.Pro549Leu) rs776327443
NM_000404.2(GLB1):c.245C>T rs72555393
NM_000404.2(GLB1):c.367G>A rs28934274
NM_000404.2(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.2(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.2(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000404.2(GLB1):c.602G>A (p.Arg201His) rs189115557
NM_000404.2(GLB1):c.808T>G (p.Tyr270Asp) rs376663785
NM_000404.2(GLB1):c.902C>T (p.Ala301Val) rs750531880
NM_000404.3(GLB1):c.1051C>T (p.Arg351Ter) rs72555372
NM_000404.3(GLB1):c.1174_1175delCT (p.Leu392Valfs) rs398123348
NM_000404.3(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.3(GLB1):c.1233+8T>C rs13093698
NM_000404.3(GLB1):c.1285C>T (p.Pro429Ser) rs180869784
NM_000404.3(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.3(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.3(GLB1):c.1444C>T (p.Arg482Cys) rs72555365
NM_000404.3(GLB1):c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) rs398123349
NM_000404.3(GLB1):c.145C>T (p.Arg49Cys) rs72555358
NM_000404.3(GLB1):c.1479+1G>A rs1022476871
NM_000404.3(GLB1):c.1498A>G (p.Thr500Ala) rs72555368
NM_000404.3(GLB1):c.1594A>G (p.Ser532Gly) rs73826339
NM_000404.3(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.3(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.3(GLB1):c.175C>T (p.Arg59Cys) rs756878418
NM_000404.3(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.3(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371
NM_000404.3(GLB1):c.203G>A (p.Arg68Gln) rs572237881
NM_000404.3(GLB1):c.245+1G>A rs778423653
NM_000404.3(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.3(GLB1):c.397-1G>A rs398123353
NM_000404.3(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000404.3(GLB1):c.446C>T (p.Ser149Phe) rs778700089
NM_000404.3(GLB1):c.458-11T>C rs34204221
NM_000404.3(GLB1):c.481T>G (p.Trp161Gly) rs398123355
NM_000404.3(GLB1):c.792+10G>T rs79518579
NM_000404.3(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.817_818delTGinsCT (p.Trp273Leu)
NM_001135602.2(GLB1):c.913C>T (p.Leu305Phe) rs34421970
NM_001317040.1(GLB1):c.745C>T (p.Arg249Cys) rs72555360
NM_001317040.1(GLB1):c.985C>T (p.His329Tyr) rs745386663

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