ClinVar Miner

List of variants in gene ARSA reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NC_000022.11:g.50628493G>A
NM_000487.6(ARSA):c.-136C>G rs6151408
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.302del (p.Gly101fs) rs761606317
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
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.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230
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.854+1G>T rs886041911
NM_000487.6(ARSA):c.854+3A>G rs1057524566
NM_000487.6(ARSA):c.926A>T (p.Glu309Val) rs1085308016
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.979G>A (p.Gly327Ser) rs148092995

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.