ClinVar Miner

Variants in gene TPO with conflicting interpretations

See also:
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
646 30 0 18 4 0 1 22

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 6 1 0 0
likely pathogenic 6 0 0 0 0
uncertain significance 1 0 0 4 0
likely benign 0 0 4 0 12
benign 0 0 0 12 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001206744.2(TPO):c.1587A>C (p.Leu529Phe) rs114796303 0.01634
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp) rs114406277 0.00629
NM_001206744.2(TPO):c.2749-4G>A rs28915686 0.00476
NM_001206744.2(TPO):c.30G>A (p.Thr10=) rs28909989 0.00362
NM_001206744.2(TPO):c.2541G>A (p.Val847=) rs61734476 0.00183
NM_001206744.2(TPO):c.1317G>A (p.Lys439=) rs28910598 0.00175
NM_001206744.2(TPO):c.840G>A (p.Pro280=) rs187974063 0.00135
NM_001206744.2(TPO):c.978G>A (p.Ala326=) rs145985334 0.00114
NM_001206744.2(TPO):c.2499C>T (p.Asp833=) rs142148533 0.00083
NM_001206744.2(TPO):c.660C>T (p.Val220=) rs151154074 0.00076
NM_001206744.2(TPO):c.404C>A (p.Pro135His) rs61758083 0.00034
NM_001206744.2(TPO):c.2524G>A (p.Gly842Arg) rs201659055 0.00024
NM_001206744.2(TPO):c.1082G>T (p.Arg361Leu) rs201781919 0.00021
NM_001206744.2(TPO):c.9G>A (p.Ala3=) rs61758084 0.00019
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu) rs121908088 0.00016
NM_001206744.2(TPO):c.501C>T (p.Gly167=) rs370072872 0.00015
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) rs140124953 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206744.2(TPO):c.1768+1G>A

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