ClinVar Miner

List of variants in gene ARSA reported as not provided for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) rs80338823
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471

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.