List of variants reported as pathogenic for Mucopolysaccharidosis type 6 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	gnomAD frequency
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	rs118203943	0.00017
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)	rs991104525	0.00008
NM_000046.5(ARSB):c.1336+2T>G	rs768012515	0.00003
NM_000046.5(ARSB):c.1143-1G>C	rs431905495	0.00002
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)	rs1255777033	0.00002
NM_000046.5(ARSB):c.1142+2T>C	rs781510986	0.00001
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)	rs200188234	0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)	rs1299207831	0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)	rs371886102	0.00001
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.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.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.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.498del (p.Phe166fs)	rs1554088002
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter)	rs773460207
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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