ClinVar Miner

Variants in gene IDUA 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
371 52 0 10 21 2 1 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 other
pathogenic 0 7 0 0 1 0
likely pathogenic 7 0 0 0 0 0
uncertain significance 0 0 0 17 6 0
likely benign 0 0 17 0 3 0
benign 1 0 6 3 0 2
other 0 0 0 0 2 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.1402+8G>A
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998
NM_000203.5(IDUA):c.493+7G>A rs200509712
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342

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