ClinVar Miner

Variants in gene DBT 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:
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 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
353 15 0 13 3 0 4 19

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 5 0 0 0
likely pathogenic 5 0 4 0 0
uncertain significance 0 4 0 3 0
likely benign 0 0 3 0 8
benign 0 0 0 8 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_001918.4(DBT):c.1150= (p.Gly384=) rs12021720
NM_001918.4(DBT):c.1202T>C (p.Ile401Thr) rs1449113689
NM_001918.4(DBT):c.1210-8A>T rs535837017
NM_001918.4(DBT):c.1281+31T>G rs115696850
NM_001918.4(DBT):c.251+14dup rs201469612
NM_001918.4(DBT):c.291C>T (p.Ser97=) rs201318480
NM_001918.4(DBT):c.327C>T (p.Thr109=) rs138796800
NM_001918.4(DBT):c.5C>T (p.Ala2Val) rs398123672
NM_001918.4(DBT):c.670G>T (p.Glu224Ter) rs74103423
NM_001918.4(DBT):c.724T>C (p.Ser242Pro) rs146249007
NM_001918.4(DBT):c.747C>A (p.Gly249=) rs200612682
NM_001918.4(DBT):c.753C>T (p.Asp251=) rs79292123
NM_001918.4(DBT):c.75_76del (p.Cys26fs) rs768832921
NM_001918.4(DBT):c.76T>C (p.Cys26Arg) rs145674833
NM_001918.4(DBT):c.827T>G (p.Phe276Cys) rs121964999
NM_001918.4(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.4(DBT):c.901C>T (p.Arg301Cys) rs185492864
NM_001918.4(DBT):c.939G>C (p.Lys313Asn) rs398123676
NM_001918.5(DBT):c.1018-550A>G rs796052135

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.