ClinVar Miner

Variants in gene HSPB1 with conflicting interpretations

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
319 21 0 12 5 0 7 24

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
pathogenic 0 4 3 1 0
likely pathogenic 4 0 3 0 1
uncertain significance 3 3 0 5 0
likely benign 1 0 5 0 8
benign 0 1 0 8 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859 0.00486
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861 0.00170
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178 0.00056
NM_001540.5(HSPB1):c.438C>T (p.Pro146=) rs7805625 0.00049
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324 0.00011
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936 0.00007
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) rs749963653 0.00006
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168 0.00002
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_001540.5(HSPB1):c.570G>C (p.Gln190His) rs764297134 0.00001
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.180dup (p.Ala61fs) rs1064796370
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772

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