ClinVar Miner

List of variants in gene ARSA reported as pathogenic for not provided

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Total variants: 37
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HGVS dbSNP
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1125_1126del (p.Phe376fs) rs398123412
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) rs80338823
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414
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.302del (p.Gly101fs) rs761606317
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059
NM_000487.6(ARSA):c.34del (p.Ala12fs) rs398123415
NM_000487.6(ARSA):c.378G>A (p.Trp126Ter)
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.474C>A (p.Cys158Ter) rs768028181
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.684+1G>A
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.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.854+1G>T rs886041911
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) rs199476389
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
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419

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