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
492 55 6 19 19 2 4 41

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 6 2 0 0 0
likely pathogenic 6 0 4 0 0 0
uncertain significance 2 4 6 18 4 2
likely benign 0 0 18 0 13 2
benign 0 0 4 13 0 2
other 0 0 2 2 2 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_022042.4(SLC26A1):c.534C>T (p.Ile178=) rs36095812 0.00611
NM_022042.4(SLC26A1):c.1549G>A (p.Gly517Arg) rs187110381 0.00386
NM_022042.4(SLC26A1):c.*877C>T rs200911718 0.00276
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro) rs148386572 0.00222
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 0.00158
NM_022042.4(SLC26A1):c.181C>T (p.Arg61Cys) rs547128457 0.00084
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_000203.5(IDUA):c.299+988C>T rs142262555 0.00037
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp) rs143381873 0.00029
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His) rs200471470 0.00028
NM_022042.4(SLC26A1):c.197G>A (p.Arg66Gln) rs201219683 0.00017
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_022042.4(SLC26A1):c.760C>T (p.Arg254Cys) rs370834972 0.00016
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln) rs387907487 0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln) rs368990025 0.00011
NM_000203.5(IDUA):c.299+1368C>T rs376289512 0.00010
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter) rs536555705 0.00009
NM_022042.4(SLC26A1):c.731T>C (p.Met244Thr) rs374176452 0.00008
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466 0.00004
NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met) rs201503661 0.00004
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234 0.00002
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_022042.4(SLC26A1):c.*874C>T rs775172497 0.00001
NM_022042.4(SLC26A1):c.*876C>T rs546988577 0.00001
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
NM_000203.5(IDUA):c.299+3632G>C rs143974931
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_022042.4(SLC26A1):c.1284G>A (p.Leu428=)
NM_022042.4(SLC26A1):c.213C>A (p.Gly71=)
NM_022042.4(SLC26A1):c.312G>A (p.Thr104=)

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