ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis type 6

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ClinVar version:
Total variants: 157
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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_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641 0.00005
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000046.5(ARSB):c.1336+2T>G rs768012515 0.00003
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro) rs397514441 0.00003
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000046.5(ARSB):c.1142+1G>A rs746396210 0.00001
NM_000046.5(ARSB):c.1142+2T>C rs781510986 0.00001
NM_000046.5(ARSB):c.1336+1G>A rs376233975 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter) rs200188234 0.00001
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter) rs1234650208 0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.245del (p.Leu82fs) rs750845916 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942 0.00001
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter) rs1554088099 0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.691-1G>A rs778868348 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374 0.00001
GRCh37/hg19 5q14.1(chr5:78111022-78111871)
NC_000005.10:g.(78839427_78885583)_(78885828_78955294)del
NC_000005.10:g.(78885828_78955294)_(78955503_78964415)del
NC_000005.10:g.(?_78964406)_(78969202_?)del
NC_000005.9:g.(?_77385207)_(78135259_?)del
NC_000005.9:g.(?_78076210)_(78181660_?)del
NC_000005.9:g.(?_78076220)_(78077817_?)del
NC_000005.9:g.(?_78076220)_(78281071_?)del
NC_000005.9:g.(?_78111899)_(78135259_?)del
NC_000005.9:g.(?_78181387)_(78181670_?)del
NC_000005.9:g.(?_78251098)_(78265035_?)del
NC_000005.9:g.(?_78251108)_(78251335_?)del
NC_000005.9:g.(?_78251108)_(78281081_?)del
NC_000005.9:g.(?_78260219)_(78265035_?)del
NC_000005.9:g.(?_78280740)_(78281071_?)del
NM_000046.3:c.384_386delCTC
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter) rs1747989303
NM_000046.5(ARSB):c.1036del (p.Glu346fs) rs1554079302
NM_000046.5(ARSB):c.103_118del (p.Pro35fs) rs2112583121
NM_000046.5(ARSB):c.1059G>A (p.Trp353Ter) rs1554079296
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113del (p.Gly38fs) rs1349838988
NM_000046.5(ARSB):c.1142+1G>T rs746396210
NM_000046.5(ARSB):c.1142+2T>A rs781510986
NM_000046.5(ARSB):c.1143-1G>T
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys) rs1554074132
NM_000046.5(ARSB):c.116_123del (p.Ala39fs) rs1554032243
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.118_134del (p.Gly40fs) rs398123123
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1208C>A (p.Ser403Ter) rs771296632
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.1214-2A>T rs1554069808
NM_000046.5(ARSB):c.121dup (p.Ala41fs) rs1561197865
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) rs766772376
NM_000046.5(ARSB):c.1261G>T (p.Glu421Ter) rs1554069793
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1336+2T>C rs768012515
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1418G>A (p.Trp473Ter)
NM_000046.5(ARSB):c.1433del (p.Asp478fs)
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000046.5(ARSB):c.1521dup (p.His508fs)
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) rs1554032220
NM_000046.5(ARSB):c.1533del (p.Val512fs)
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)
NM_000046.5(ARSB):c.1558del (p.Arg520fs) rs1160897474
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr) rs1554069661
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter) rs200712296
NM_000046.5(ARSB):c.173del (p.Asn58fs) rs1180759765
NM_000046.5(ARSB):c.17_21dup (p.Ser8fs)
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) rs1554032196
NM_000046.5(ARSB):c.208_215del (p.Pro70fs) rs1554032155
NM_000046.5(ARSB):c.215_230delinsAGGAG (p.Leu72fs)
NM_000046.5(ARSB):c.223del (p.Leu75fs)
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.238del (p.Val80fs) rs431905493
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) rs969231209
NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter)
NM_000046.5(ARSB):c.257del (p.Tyr86fs) rs1554032122
NM_000046.5(ARSB):c.264G>T (p.Gln88His) rs750947605
NM_000046.5(ARSB):c.270_274del (p.Cys91fs) rs1554032110
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys) rs751010538
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) rs1554032099
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter) rs1554032094
NM_000046.5(ARSB):c.307_312+147del rs1554089838
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter) rs1753093650
NM_000046.5(ARSB):c.312+2T>G
NM_000046.5(ARSB):c.31C>T (p.Arg11Ter)
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter) rs2112530498
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
NM_000046.5(ARSB):c.359dup (p.Ser120fs)
NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)
NM_000046.5(ARSB):c.385del (p.Leu129fs) rs1752338387
NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.430G>C (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.438del (p.Trp146fs)
NM_000046.5(ARSB):c.468del (p.Pro157fs) rs2112529559
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.498del (p.Phe166fs) rs1554088002
NM_000046.5(ARSB):c.54del (p.Leu19fs)
NM_000046.5(ARSB):c.551T>C (p.Ile184Thr)
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.64dup (p.Val22fs) rs2112583680
NM_000046.5(ARSB):c.680del (p.Pro227fs)
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)
NM_000046.5(ARSB):c.743del (p.Pro248fs) rs431905494
NM_000046.5(ARSB):c.745G>T (p.Glu249Ter)
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter) rs1580121683
NM_000046.5(ARSB):c.866_867insTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGCAGTGGGCT (p.Leu289_Trp290insGlyArgProArgArgAlaAspHisGluValLysArgSerArgProSerArgLeuLysArgTer) rs2112483439
NM_000046.5(ARSB):c.898+1G>A rs1751669303
NM_000046.5(ARSB):c.899-1337_1142+1055del
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.5(ARSB):c.916_917del (p.Leu306fs)
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile) rs2112211996
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
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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