ClinVar Miner

Variants with conflicting interpretations studied for beta Thalassemia

Coded as:
Minimum review status of the submission for beta Thalassemia: Y axis collection method of the submission for beta Thalassemia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
33 57 6 27 4 12 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.

All conditions
beta Thalassemia pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 19 3 1 0 3 7
likely pathogenic 22 0 2 0 0 0 3
uncertain significance 0 1 6 2 1 0 1
likely benign 1 0 1 0 3 0 2

Condition to condition summary #

Total conditions: 30
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not provided 0 47 6 20 2 0 3 29
beta Thalassemia 85 32 1 17 0 0 0 18
not specified 0 22 5 4 2 0 3 13
Beta-plus-thalassemia 0 15 0 8 0 0 0 8
beta^0^ Thalassemia 0 19 0 8 0 0 0 8
Hemoglobinopathy 0 8 0 7 0 0 0 7
Beta thalassemia intermedia 0 4 0 4 0 0 0 4
Malaria, resistance to 0 0 0 0 0 3 0 3
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Susceptibility to malaria; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis 6, familial 0 9 0 2 0 0 0 2
Beta thalassemia major 0 5 0 1 0 0 0 1
Beta-knossos-thalassemia 0 0 0 1 0 0 0 1
Beta-thalassemia, lermontov type 0 0 0 1 0 0 0 1
Erythrocytosis 6, familial 0 0 0 1 0 0 0 1
HBB-Related Disorders 0 1 0 1 0 0 0 1
HEMOGLOBIN CITY OF HOPE 0 0 0 0 0 1 0 1
HEMOGLOBIN EGYPT 0 0 0 0 0 1 0 1
HEMOGLOBIN G (COUSHATTA) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (HSIN-CHU) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (SASKATOON) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TAEGU) 0 0 0 0 0 1 0 1
HEMOGLOBIN KNOSSOS 0 0 0 0 0 1 0 1
HEMOGLOBIN MALAY 0 0 0 0 0 1 0 1
HEMOGLOBIN O (ARAB) 0 0 0 0 0 1 0 1
HEMOGLOBIN S 0 0 0 0 0 1 0 1
HEMOGLOBIN SAN DIEGO 0 0 0 0 0 1 0 1
HEMOGLOBIN SHOWA-YAKUSHIJI 0 0 0 0 0 1 0 1
HEMOGLOBIN VALLETTA 0 0 0 0 0 1 0 1
Hb D-Los Angeles 0 0 0 0 0 1 0 1
Hb SS disease 0 7 0 1 0 0 0 1
Hemoglobin E 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.203_204delTG (p.Val68Alafs) rs34282684
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.230delC (p.Ala77Valfs) rs281864901
NM_000518.4(HBB):c.251delG (p.Gly84Alafs) rs193922555
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.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-138C>T rs33944208
NM_000518.5(HBB):c.-140C>T rs34999973
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-51T>C rs386134236
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.217dup (p.Ser73Lysfs) rs33969853
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.309C>A (p.Asn103Lys) rs34227486
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85dup (p.Leu29Profs) rs35532010
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-23T>C rs111851677

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