ClinVar Miner

Variants in gene ARSA 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
384 35 10 55 14 2 13 83

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 10 44 11 0 1 1
likely pathogenic 44 0 3 0 0 0
uncertain significance 11 3 0 9 7 2
likely benign 0 0 9 0 11 0
benign 1 0 7 11 0 2
other 1 0 2 0 2 0

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
HGVS dbSNP
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1107+1del rs1057517036
NM_000487.6(ARSA):c.1107+9G>A rs768146306
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376
NM_000487.6(ARSA):c.1200C>T (p.Phe400=)
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.293_294insT (p.Arg99fs) rs1603445003
NM_000487.6(ARSA):c.295dup (p.Arg99fs) rs1555901056
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.466-7G>C rs6151414
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter) rs762284875
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) rs556812341
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.542dup (p.Leu183fs) rs776748338
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386
NM_000487.6(ARSA):c.854+1G>A
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000487.6(ARSA):c.937C>A (p.Arg313=) rs551472773
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476
NM_000487.6(ARSA):c.979+8C>T
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992

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