ClinVar Miner

Variants in gene DBH 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
155 20 0 6 9 0 0 15

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.

uncertain significance likely benign benign
uncertain significance 0 8 1
likely benign 8 0 6
benign 1 6 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_000787.4(DBH):c.1025-6T>A rs199926239
NM_000787.4(DBH):c.105C>T (p.Ala35=) rs140025171
NM_000787.4(DBH):c.1094T>C (p.Met365Thr) rs200103371
NM_000787.4(DBH):c.1215C>T (p.His405=) rs144219953
NM_000787.4(DBH):c.1444G>A (p.Gly482Arg) rs41316996
NM_000787.4(DBH):c.1572C>T (p.Asn524=) rs200509113
NM_000787.4(DBH):c.165G>A (p.Pro55=) rs139591190
NM_000787.4(DBH):c.1735C>T (p.Leu579=) rs61733931
NM_000787.4(DBH):c.1772A>T (p.Glu591Val)
NM_000787.4(DBH):c.235C>T (p.Arg79Trp) rs77273740
NM_000787.4(DBH):c.291C>T (p.Asn97=) rs75734048
NM_000787.4(DBH):c.354C>T (p.Asp118=) rs199898782
NM_000787.4(DBH):c.747C>T (p.Tyr249=) rs35465867
NM_000787.4(DBH):c.807C>T (p.Cys269=) rs141816448
NM_000787.4(DBH):c.850G>A (p.Asp284Asn) rs13306301

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.