ClinVar Miner

Variants in gene combination HBB, LOC107133510, LOC110006319 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
330 34 0 24 26 24 8 68

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 other
pathogenic 0 12 3 1 2 14
likely pathogenic 12 0 2 1 1 3
uncertain significance 3 2 0 24 5 10
likely benign 1 1 24 0 12 4
benign 2 1 5 12 0 1
other 14 3 10 4 1 0

All variants with conflicting interpretations #

Total variants: 68
Download table as spreadsheet
NC_000011.10:g.5225460A>C rs560643693
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) rs33941844
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) rs33983276
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.315+70G>C rs373152208
NM_000518.5(HBB):c.316-102C>A rs1468940510
NM_000518.5(HBB):c.316-109C>T rs1554917650
NM_000518.5(HBB):c.316-114C>A rs1003790835
NM_000518.5(HBB):c.316-124A>T rs1184042209
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.316-12T>C rs781604042
NM_000518.5(HBB):c.316-138G>A rs1444028845
NM_000518.5(HBB):c.316-145G>A rs1005042281
NM_000518.5(HBB):c.316-179A>C rs185607297
NM_000518.5(HBB):c.316-189A>G rs1034207896
NM_000518.5(HBB):c.316-19T>A rs191535077
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-292del rs1170203019
NM_000518.5(HBB):c.316-30A>C rs193922558
NM_000518.5(HBB):c.316-37G>T rs193922559
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.316-45G>C rs140033163
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.316-7C>A rs34483965
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-96G>C rs193922561
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) rs34022507
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.328G>C (p.Val110Leu) rs33969677
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427

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