ClinVar Miner

Variants with conflicting interpretations studied for beta Thalassemia

Coded as:
Minimum review status of the submission for beta Thalassemia: 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 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
245 92 0 38 8 0 6 49

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
pathogenic 0 33 4 2 0
likely pathogenic 33 0 0 0 0
uncertain significance 4 0 0 7 4
likely benign 2 0 7 0 5
benign 0 0 4 5 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
beta Thalassemia 245 92 0 38 8 0 6 49

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.4(HBB):c.-121C>T rs281864518
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.-10_-7del rs34196559
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-140C>G rs34999973
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.315+1G>C rs33945777
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-15T>G rs35456885

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