ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP
NC_000005.10:g.(78839427_78885583)_(78885828_78955294)del
NC_000005.10:g.(78885828_78955294)_(78955503_78964415)del
NM_000046.5(ARSB):c.1036del (p.Glu346fs) rs1554079302
NM_000046.5(ARSB):c.1059G>A (p.Trp353Ter) rs1554079296
NM_000046.5(ARSB):c.1142+1G>T rs746396210
NM_000046.5(ARSB):c.1142+2T>C rs781510986
NM_000046.5(ARSB):c.1143-1G>C rs431905495
NM_000046.5(ARSB):c.116_123del (p.Ala39fs) rs1554032243
NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter) rs771296632
NM_000046.5(ARSB):c.1208del (p.Ser403fs) rs1554074124
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1261G>T (p.Glu421Ter) rs1554069793
NM_000046.5(ARSB):c.1336+2T>G rs768012515
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter) rs200188234
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.208_215del (p.Pro70fs) rs1554032155
NM_000046.5(ARSB):c.238del (p.Val80fs) rs431905493
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831
NM_000046.5(ARSB):c.270_274del (p.Cys91fs) rs1554032110
NM_000046.5(ARSB):c.307_312+147del rs1554089838
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033
NM_000046.5(ARSB):c.498del (p.Phe166fs) rs1554088002
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.743del (p.Pro248fs) rs431905494
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.899-1337_1142+1055del
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) rs1554079320
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter) rs1554079318
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223

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