ClinVar Miner

List of variants in gene ARSA reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 59
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HGVS dbSNP
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1115G>C (p.Arg372Pro) rs74315477
NM_000487.6(ARSA):c.1121_1122CT[2] (p.Phe376fs) rs398123412
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
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.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1210+20C>G rs762674
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357
NM_000487.6(ARSA):c.1397C>T (p.Ala466Val) rs763065602
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) rs80338823
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371
NM_000487.6(ARSA):c.1471T>C (p.Cys491Arg) rs199476388
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414
NM_000487.6(ARSA):c.225-5C>G rs192013394
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
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.302del (p.Gly101fs) rs761606317
NM_000487.6(ARSA):c.329C>T (p.Ala110Val) rs1191014984
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059
NM_000487.6(ARSA):c.34del (p.Ala12fs) rs398123415
NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.465G>A (p.Gln155=) rs199476377
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr) rs199476341
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.656G>A (p.Arg219His) rs148403406
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.685-7C>A rs398123417
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.769G>C (p.Asp257His) rs80338819
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386
NM_000487.6(ARSA):c.854+5G>T rs886043370
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.901C>G (p.Arg301Gly) rs794727704
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622
NM_000487.6(ARSA):c.932G>A (p.Gly311Asp) rs886042812
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419

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