ClinVar Miner

List of variants in gene ARSB reported as likely pathogenic by Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova

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Total variants: 74
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HGVS dbSNP
NM_000046.4(ARSB):c.1048A>T (p.Ile350Phe) rs79970603
NM_000046.4(ARSB):c.1052C>T (p.Ser351Phe) rs756671977
NM_000046.4(ARSB):c.1079T>C (p.Leu360Pro) rs1554079284
NM_000046.4(ARSB):c.108_120del (p.Ser37Profs) rs1028653411
NM_000046.4(ARSB):c.1127T>A (p.Val376Glu) rs1554079268
NM_000046.4(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.4(ARSB):c.1142+2T>A rs781510986
NM_000046.4(ARSB):c.1143-8T>G rs431905496
NM_000046.4(ARSB):c.114del (p.Ala39Profs) rs1554032252
NM_000046.4(ARSB):c.1161dup (p.Arg388Glnfs) rs1554074135
NM_000046.4(ARSB):c.1168G>A (p.Glu390Lys) rs1554074132
NM_000046.4(ARSB):c.1214-2A>G rs1554069808
NM_000046.4(ARSB):c.1279del (p.Thr427Hisfs) rs1554069791
NM_000046.4(ARSB):c.1286dup (p.His430Profs) rs1554069786
NM_000046.4(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.4(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.4(ARSB):c.1391C>A (p.Ser464Ter) rs769996056
NM_000046.4(ARSB):c.1394C>G (p.Ser465Ter) rs1209412483
NM_000046.4(ARSB):c.1415T>C (p.Leu472Pro) rs1211360114
NM_000046.4(ARSB):c.1475del (p.Pro492Leufs) rs1554069669
NM_000046.4(ARSB):c.1482del (p.Ile494Metfs) rs1554069668
NM_000046.4(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.4(ARSB):c.149T>A (p.Leu50Ter) rs1554032222
NM_000046.4(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000046.4(ARSB):c.1539C>G (p.Tyr513Ter) rs1251438062
NM_000046.4(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.4(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.4(ARSB):c.176A>T (p.Asp59Val) rs1179935748
NM_000046.4(ARSB):c.207_213dup (p.Leu72Alafs) rs1554032160
NM_000046.4(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.4(ARSB):c.219del (p.Asp73Glufs) rs1554032153
NM_000046.4(ARSB):c.223_232del (p.Leu75Alafs) rs1554032145
NM_000046.4(ARSB):c.237_243del (p.Val80Trpfs) rs1554032134
NM_000046.4(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.4(ARSB):c.245del (p.Leu82Argfs) rs750845916
NM_000046.4(ARSB):c.247_248del (p.Asp83Glnfs) rs1554032131
NM_000046.4(ARSB):c.253T>C (p.Tyr85His) rs1554032129
NM_000046.4(ARSB):c.263dup (p.Pro89Alafs) rs1554032118
NM_000046.4(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.4(ARSB):c.289C>T (p.Gln97Ter) rs1554032094
NM_000046.4(ARSB):c.293T>A (p.Leu98Gln) rs1554032090
NM_000046.4(ARSB):c.293T>G (p.Leu98Arg) rs1554032090
NM_000046.4(ARSB):c.313-7412_690+1601del
NM_000046.4(ARSB):c.328C>T (p.Gln110Ter) rs1554088099
NM_000046.4(ARSB):c.349T>C (p.Cys117Arg) rs118203939
NM_000046.4(ARSB):c.375dup (p.Glu126Terfs) rs1554088081
NM_000046.4(ARSB):c.395T>C (p.Leu132Pro) rs1554088079
NM_000046.4(ARSB):c.430G>A (p.Gly144Arg) rs746206847
NM_000046.4(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.4(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.4(ARSB):c.509T>G (p.Leu170Arg) rs1484763838
NM_000046.4(ARSB):c.511G>A (p.Gly171Ser) rs1554087445
NM_000046.4(ARSB):c.532C>G (p.His178Asp) rs1554087441
NM_000046.4(ARSB):c.533A>T (p.His178Leu) rs1554087439
NM_000046.4(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.4(ARSB):c.630_636del (p.Tyr210Terfs) rs1554087406
NM_000046.4(ARSB):c.659_660del (p.Ile220Serfs) rs1554087395
NM_000046.4(ARSB):c.667A>G (p.Ile223Val) rs367650121
NM_000046.4(ARSB):c.691-1G>A rs778868348
NM_000046.4(ARSB):c.750_754delATACTinsCCTGAAG (p.Glu250Aspfs) rs1554086417
NM_000046.4(ARSB):c.750_754delATACTinsCCTGAAGTCAAG (p.Glu250Aspfs) rs1554086417
NM_000046.4(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.4(ARSB):c.785dup (p.Asn262Lysfs) rs749015246
NM_000046.4(ARSB):c.883_884dup (p.Ile296Serfs) rs1554086370
NM_000046.4(ARSB):c.887T>A (p.Ile296Asn) rs1554086368
NM_000046.4(ARSB):c.903C>G (p.Asn301Lys) rs147495977
NM_000046.4(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.4(ARSB):c.937C>G (p.Pro313Ala) rs749989641
NM_000046.4(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.4(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.4(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000046.4(ARSB):c.995T>G (p.Val332Gly) rs1554079312
NM_000046.4:c.(312+1_313-1_690+1_691-1)del
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396

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