ClinVar Miner

Variants in gene combination IDUA, SLC26A1 with conflicting interpretations

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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
158 14 1 7 11 2 2 18

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 4 1 0 0 0
likely pathogenic 4 0 2 0 0 0
uncertain significance 1 2 1 6 5 2
likely benign 0 0 6 0 3 1
benign 0 0 5 3 0 2
other 0 0 2 1 2 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.158+1G>A rs1264013707
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060
NM_000203.5(IDUA):c.299+10G>A rs775172497
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000203.5(IDUA):c.299+7G>A rs200911718
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260
NM_022042.4(SLC26A1):c.1622G>A (p.Arg541His) rs376289512
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319

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