ClinVar Miner

Variants in gene combination HBA1, LOC106804613 with conflicting interpretations

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X axis minimum submission review status: X axis collection method:
Minimum conflict level:
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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
158 23 0 2 3 21 1 26

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 0 1 0 0 14
likely pathogenic 0 0 0 0 0 2
uncertain significance 1 0 0 3 0 4
likely benign 0 0 3 0 2 2
benign 0 0 0 2 0 0
other 14 2 4 2 0 0

All variants with conflicting interpretations #

Total variants: 26
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NM_000558.3(HBA1):c.-42C>T rs370305736
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu) rs33978134
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.3(HBA1):c.187_189delGTG (p.Val63del) rs35672478
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
NM_000558.3(HBA1):c.278G>A (p.Arg93Gln) rs33991779
NM_000558.3(HBA1):c.278G>T (p.Arg93Leu) rs33991779
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655
NM_000558.3(HBA1):c.424C>T (p.Arg142Cys) rs33991910
NM_000558.3(HBA1):c.425G>A (p.Arg142His) rs33935328
NM_000558.3(HBA1):c.425G>T (p.Arg142Leu) rs33935328
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.4(HBA1):c.*46C>A rs141514155
NM_000558.4(HBA1):c.396T>C (p.Ser132=) rs149264789
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.265G>T (p.Ala89Ser) rs35239527
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008
NM_000558.5(HBA1):c.379G>C (p.Asp127His) rs63750950
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364
NM_000558.5(HBA1):c.421T>C (p.Tyr141His) rs35723200
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750

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