ClinVar Miner

Variants in gene ARSB 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
419 38 0 18 12 0 12 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
pathogenic 0 15 10 0 0
likely pathogenic 15 0 2 0 0
uncertain significance 10 2 0 8 5
likely benign 0 0 8 0 3
benign 0 0 5 3 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448

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