ClinVar Miner

Variants in gene TNPO3 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
222 12 0 5 7 0 1 13

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 7 0
likely benign 0 7 0 5
benign 0 0 5 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_012470.3(TNPO3):c.-9G>A rs201636723
NM_012470.3(TNPO3):c.1179T>C (p.Thr393=) rs769500215
NM_012470.3(TNPO3):c.120+9C>A rs372906002
NM_012470.3(TNPO3):c.2274-10del rs539653012
NM_012470.3(TNPO3):c.2274-5A>G rs567711266
NM_012470.3(TNPO3):c.2280T>C (p.Ile760=) rs142359170
NM_012470.3(TNPO3):c.2431-6A>C rs190759031
NM_012470.3(TNPO3):c.2542del (p.Tyr848fs) rs773574448
NM_012470.3(TNPO3):c.2652C>T (p.Thr884=) rs149434536
NM_012470.3(TNPO3):c.2741C>T (p.Ala914Val) rs61756249
NM_012470.3(TNPO3):c.275C>T (p.Thr92Ile) rs61756250
NM_012470.3(TNPO3):c.30C>T (p.Leu10=) rs138263703
NM_012470.3(TNPO3):c.582T>C (p.Asp194=) rs148885407

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