ClinVar Miner

Variants in gene TSPEAR 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 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
299 60 0 24 17 0 10 44

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 7 1 1
likely pathogenic 6 0 5 0 0
uncertain significance 7 5 0 16 5
likely benign 1 0 16 0 19
benign 1 0 5 19 0

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144991.3(TSPEAR):c.702C>T (p.Asn234=) rs117791519 0.00468
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) rs151001222 0.00210
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val) rs150107590 0.00180
NM_144991.3(TSPEAR):c.1150-20C>T rs202075180 0.00166
NM_144991.3(TSPEAR):c.900C>T (p.Asn300=) rs139106120 0.00154
NM_144991.3(TSPEAR):c.542+14C>T rs200116408 0.00148
NM_144991.3(TSPEAR):c.1566+5G>A rs117034581 0.00147
NM_144991.3(TSPEAR):c.1755-7C>T rs201717370 0.00135
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile) rs150016894 0.00129
NM_144991.3(TSPEAR):c.1566+12C>T rs199557392 0.00128
NM_144991.3(TSPEAR):c.415G>A (p.Gly139Ser) rs148095760 0.00126
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp) rs140542643 0.00093
NM_144991.3(TSPEAR):c.714G>A (p.Ala238=) rs146025689 0.00090
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_144991.3(TSPEAR):c.1778C>T (p.Ser593Leu) rs143840354 0.00056
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu) rs149481227 0.00053
NM_144991.3(TSPEAR):c.365G>A (p.Arg122Gln) rs141753295 0.00051
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met) rs148421362 0.00051
NM_144991.3(TSPEAR):c.1979T>G (p.Leu660Arg) rs140818230 0.00050
NM_144991.3(TSPEAR):c.357C>T (p.Leu119=) rs149493344 0.00046
NM_144991.3(TSPEAR):c.791-14G>C rs199699551 0.00043
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr) rs148967240 0.00042
NM_144991.3(TSPEAR):c.355C>T (p.Leu119Phe) rs143941725 0.00039
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) rs147904376 0.00034
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_144991.3(TSPEAR):c.1856+19C>T rs182590005 0.00020
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser) rs369010851 0.00013
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_144991.3(TSPEAR):c.38del (p.Leu13fs) rs778688031 0.00011
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_144991.3(TSPEAR):c.411G>A (p.Thr137=) rs140923114 0.00009
NM_144991.3(TSPEAR):c.1247A>C (p.Tyr416Ser) rs781913166 0.00008
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) rs782056388 0.00006
NM_144991.3(TSPEAR):c.346C>T (p.Leu116=) rs782700761 0.00006
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val) rs140778310 0.00003
NM_144991.3(TSPEAR):c.57C>T (p.Gly19=) rs547861049 0.00001
NM_144991.3(TSPEAR):c.72G>A (p.Glu24=) rs541177837 0.00001
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter) rs782471965 0.00001
NM_144991.3(TSPEAR):c.1178del (p.Pro393fs)
NM_144991.3(TSPEAR):c.1493_1494delinsTG (p.Gly498Val) rs2145961078
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NM_144991.3(TSPEAR):c.1870G>T (p.Glu624Ter) rs587717339

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