ClinVar Miner

Variants in gene ANO10 with conflicting interpretations

See also:
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
392 27 0 21 11 0 3 33

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 10 1 0 0
likely pathogenic 10 0 2 0 0
uncertain significance 1 2 0 11 0
likely benign 0 0 11 0 11
benign 0 0 0 11 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_018075.5(ANO10):c.788G>A (p.Arg263His) rs41289586 0.01896
NM_018075.5(ANO10):c.74A>C (p.Gln25Pro) rs112040665 0.01413
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_018075.5(ANO10):c.1915-5816C>A rs146629436 0.00245
NM_018075.5(ANO10):c.963C>T (p.Phe321=) rs149196477 0.00097
NM_018075.5(ANO10):c.88G>C (p.Glu30Gln) rs147605535 0.00085
NM_018075.5(ANO10):c.1914+3G>A rs113187031 0.00068
NM_018075.5(ANO10):c.566G>A (p.Arg189Gln) rs148873732 0.00056
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_018075.5(ANO10):c.397G>A (p.Glu133Lys) rs571983239 0.00008
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) rs150026260 0.00003
NM_018075.5(ANO10):c.337+1G>A rs765592794 0.00003
NM_018075.5(ANO10):c.1163-9A>G rs1368543726 0.00001
NM_018075.5(ANO10):c.124A>T (p.Lys42Ter) rs768831597 0.00001
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer) rs772345347 0.00001
NM_018075.5(ANO10):c.2T>C (p.Met1Thr) rs531656357 0.00001
NM_018075.5(ANO10):c.338-2A>G rs761765455 0.00001
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.1137T>C (p.Tyr379=)
NM_018075.5(ANO10):c.1219-23dup rs367784953
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.159A>G (p.Arg53=) rs533186096
NM_018075.5(ANO10):c.1683G>C (p.Thr561=) rs141040660
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)
NM_018075.5(ANO10):c.1798-12_1798-9del rs545954936
NM_018075.5(ANO10):c.45C>T (p.Phe15=)
NM_018075.5(ANO10):c.488C>T (p.Thr163Met)
NM_018075.5(ANO10):c.946C>T (p.Leu316=)

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