ClinVar Miner

List of variants in gene ARSA reported as pathogenic by OMIM

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Total variants: 45
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HGVS dbSNP
ARSA, 1-BP DEL, 297C
ARSA, 1-BP DEL, 447C
ARSA, 11-BP DEL, EX8
ARSA, IVS4DS, G-A, +1
ARSA, IVS5DS, G-T, -1, GLY325CYS
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu) rs74315478
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.1198_1200TTC[1] (p.Phe401del) rs1569077723
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile) rs28940895
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr) rs74315485
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1462C>T (p.Gln488Ter) rs74315482
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.263G>A (p.Gly88Asp) rs74315460
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) rs199476371
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.6(ARSA):c.410T>C (p.Leu137Pro) rs121434215
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.470C>G (p.Pro157Arg) rs74315464
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg) rs74315465
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr) rs74315469
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) rs74315474
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe) rs74315484
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459

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