ClinVar Miner

Variants in gene TH 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
329 32 1 16 25 0 6 45

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 1 11 4 0 0
likely pathogenic 11 0 4 0 0
uncertain significance 4 4 0 22 3
likely benign 0 0 22 0 5
benign 0 0 3 5 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_000360.3(TH):c.-71C>T rs549435434
NM_000360.4(TH):c.1035_1045del (p.Gln346fs) rs1590166832
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1176_1180del (p.Ser394fs) rs1554922593
NM_000360.4(TH):c.120C>T (p.Ser40=)
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
NM_000360.4(TH):c.12C>T (p.Pro4=) rs147131010
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536
NM_000360.4(TH):c.1383G>A (p.Pro461=)
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.342G>A (p.Glu114=) rs886038763
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752
NM_000360.4(TH):c.393C>T (p.Phe131=)
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612
NM_000360.4(TH):c.675C>T (p.Thr225=) rs1437906953
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716
NM_000360.4(TH):c.714_715del (p.Leu239fs) rs1564918287
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766
NM_000360.4(TH):c.90+13G>A rs77140743
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.91-818G>A rs753403788
NM_000360.4(TH):c.91-828C>T rs764689284
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.977+9G>C
NM_000360.4(TH):c.978-6G>A

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