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 Variants with at least 2 submissions 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 kind of conflict
217 31 13 30 6 2 12 50

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 13 21 10 2 1 1
likely pathogenic 21 0 4 0 0 0
uncertain significance 10 4 0 4 4 1
likely benign 2 0 4 0 9 2
benign 1 0 4 9 0 2
other 1 0 1 2 2 0

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.-136C>G rs6151408
NM_000487.5(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.5(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.5(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.5(ARSA):c.1115G>A (p.Arg372Gln) rs74315477
NM_000487.5(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.5(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.5(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.5(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.5(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.5(ARSA):c.1210+1G>A rs80338820
NM_000487.5(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.5(ARSA):c.1408_1418del11 (p.Ala470Leufs) rs80338823
NM_000487.5(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.5(ARSA):c.195delC (p.Tyr65Terfs) rs398123414
NM_000487.5(ARSA):c.240dupC (p.Gly81Argfs) rs786204599
NM_000487.5(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.5(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.5(ARSA):c.293C>T (p.Ser98Phe) rs74315456
NM_000487.5(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.5(ARSA):c.304delC (p.Leu102Cysfs) rs786204673
NM_000487.5(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.5(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.5(ARSA):c.418dupC (p.His140Profs) rs745884435
NM_000487.5(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.5(ARSA):c.465+1G>A rs80338815
NM_000487.5(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.5(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.5(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000487.5(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.5(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000487.5(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.5(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.5(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.5(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.5(ARSA):c.737G>A (p.Arg246His) rs199476366
NM_000487.5(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.5(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.5(ARSA):c.769G>C (p.Asp257His) rs80338819
NM_000487.5(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.5(ARSA):c.868C>T (p.Arg290Cys) rs74315473
NM_000487.5(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000487.5(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.5(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000487.5(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.5(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_000487.6(ARSA):c.369_374delCGGCAAinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965

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