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
765 49 0 27 51 30 10 97

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 14 6 3 1 16
likely pathogenic 14 0 4 1 0 2
uncertain significance 6 4 0 49 7 15
likely benign 3 1 49 0 13 6
benign 1 0 7 13 0 0
other 16 2 15 6 0 0

All variants with conflicting interpretations #

Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_000518.5(HBB):c.316-37G>T rs193922559 0.00058
NM_000518.4(HBB):c.*138T>G rs560643693 0.00056
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000518.5(HBB):c.316-96G>C rs193922561 0.00039
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000518.5(HBB):c.316-19T>A rs191535077 0.00027
NM_000518.5(HBB):c.316-45G>C rs140033163 0.00024
NM_000518.5(HBB):c.315+70G>C rs373152208 0.00021
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.5(HBB):c.316-189A>G rs1034207896 0.00006
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000518.5(HBB):c.316-81T>A rs911937119 0.00004
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-177A>G rs964085975 0.00003
NM_000518.5(HBB):c.316-28G>A rs771736852 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020 0.00002
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415 0.00001
NM_000518.5(HBB):c.*74A>G rs369101035 0.00001
NM_000518.5(HBB):c.316-102C>A rs1468940510 0.00001
NM_000518.5(HBB):c.316-107G>C rs930802593 0.00001
NM_000518.5(HBB):c.316-114C>A rs1003790835 0.00001
NM_000518.5(HBB):c.316-124A>T rs1184042209 0.00001
NM_000518.5(HBB):c.316-130T>C rs956857115 0.00001
NM_000518.5(HBB):c.316-138G>A rs1444028845 0.00001
NM_000518.5(HBB):c.316-145G>A rs1005042281 0.00001
NM_000518.5(HBB):c.316-156T>C rs1164871363 0.00001
NM_000518.5(HBB):c.316-99T>G rs1232651664 0.00001
NM_000518.5(HBB):c.333G>A (p.Leu111=) rs1215164743 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) rs33941844
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.386C>T (p.Ala129Val) rs33957286
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*132C>T rs1420779550
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.315+9A>G rs1277597344
NM_000518.5(HBB):c.316-100T>A rs1847534694
NM_000518.5(HBB):c.316-109C>T rs1554917650
NM_000518.5(HBB):c.316-114C>T rs1003790835
NM_000518.5(HBB):c.316-128G>C rs1291160651
NM_000518.5(HBB):c.316-141G>A rs1011427406
NM_000518.5(HBB):c.316-148G>C rs1847536038
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-179A>T
NM_000518.5(HBB):c.316-198G>A rs547258651
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-210T>A rs1847537565
NM_000518.5(HBB):c.316-27T>G rs1280140490
NM_000518.5(HBB):c.316-28G>C rs771736852
NM_000518.5(HBB):c.316-336del rs1251286087
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.316-42del rs746631999
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-85A>G rs1847534399
NM_000518.5(HBB):c.316-8T>G rs34793594
NM_000518.5(HBB):c.316-96G>A rs193922561
NM_000518.5(HBB):c.316-99del rs1257175417
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) rs34022507
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.328del (p.Val110fs) rs63751201
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
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>G (p.Val127Gly) rs33925391
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.420T>A (p.Asn140Lys) rs34240441
NM_000518.5(HBB):c.425T>G (p.Leu142Arg) rs35854892
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.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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