ClinVar Miner

List of variants in gene ARSB, LOC129994126 studied for Mucopolysaccharidosis type 6

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Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000046.4(ARSB):c.-239T>A rs115264286 0.00346
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr) rs779228581 0.00022
NM_000046.5(ARSB):c.-15C>T rs779990830 0.00016
NM_000046.5(ARSB):c.312+4C>T rs770927433 0.00015
NM_000046.4(ARSB):c.-187G>A rs529476939 0.00011
NM_000046.5(ARSB):c.240G>A (p.Val80=) rs368338486 0.00010
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser) rs375647920 0.00009
NM_000046.5(ARSB):c.312+8G>C rs774555967 0.00009
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00006
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021 0.00005
NM_000046.5(ARSB):c.105G>A (p.Pro35=) rs1423589060 0.00004
NM_000046.5(ARSB):c.261G>A (p.Thr87=) rs756411069 0.00004
NM_000046.5(ARSB):c.-19G>A rs575001282 0.00003
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro) rs397514441 0.00003
NM_000046.5(ARSB):c.29C>T (p.Pro10Leu) rs757310157 0.00003
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala) rs778159305 0.00003
NM_000046.5(ARSB):c.174C>T (p.Asn58=) rs1753117512 0.00002
NM_000046.5(ARSB):c.176A>G (p.Asp59Gly) rs1179935748 0.00002
NM_000046.5(ARSB):c.246G>A (p.Leu82=) rs1035210606 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000046.5(ARSB):c.312+12C>T rs556731547 0.00002
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595 0.00002
NM_000046.5(ARSB):c.9G>A (p.Pro3=) rs1289000597 0.00002
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly) rs1250729156 0.00001
NM_000046.5(ARSB):c.129G>A (p.Arg43=) rs761491971 0.00001
NM_000046.5(ARSB):c.141G>C (p.Leu47=) rs2112582799 0.00001
NM_000046.5(ARSB):c.144C>T (p.Val48=) rs1333402479 0.00001
NM_000046.5(ARSB):c.15C>T (p.Gly5=) rs1313700683 0.00001
NM_000046.5(ARSB):c.163C>T (p.Leu55=) rs769716793 0.00001
NM_000046.5(ARSB):c.178G>A (p.Val60Ile) rs1438070050 0.00001
NM_000046.5(ARSB):c.196C>T (p.Arg66Cys) rs951682570 0.00001
NM_000046.5(ARSB):c.210G>A (p.Pro70=) rs767061346 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.222G>C (p.Ala74=) rs1160145148 0.00001
NM_000046.5(ARSB):c.225G>T (p.Leu75=) rs1362656468 0.00001
NM_000046.5(ARSB):c.231C>T (p.Ala77=) rs542520705 0.00001
NM_000046.5(ARSB):c.234C>G (p.Gly78=) rs1453244830 0.00001
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu) rs1271212818 0.00001
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro) rs749465732 0.00001
NM_000046.5(ARSB):c.245del (p.Leu82fs) rs750845916 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.25T>C (p.Leu9=) rs896185299 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.267G>C (p.Pro89=) rs573453966 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.276G>A (p.Thr92=) rs1474189742 0.00001
NM_000046.5(ARSB):c.279G>A (p.Pro93=) rs1264986788 0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942 0.00001
NM_000046.5(ARSB):c.291G>C (p.Gln97His) rs774979356 0.00001
NM_000046.5(ARSB):c.293T>C (p.Leu98Pro) rs1554032090 0.00001
NM_000046.5(ARSB):c.312+10G>T rs901158566 0.00001
NM_000046.5(ARSB):c.312+11C>T rs768585880 0.00001
NM_000046.5(ARSB):c.312+14C>G rs1293997321 0.00001
NM_000046.5(ARSB):c.312+16G>A rs1753090004 0.00001
NM_000046.5(ARSB):c.312+7G>A rs1315861475 0.00001
NM_000046.5(ARSB):c.312+8G>A rs774555967 0.00001
NM_000046.5(ARSB):c.312G>C (p.Gln104His) rs1478202079 0.00001
NM_000046.5(ARSB):c.34G>C (p.Gly12Arg) rs1753130873 0.00001
NM_000046.5(ARSB):c.39C>T (p.Pro13=) rs751594970 0.00001
NM_000046.5(ARSB):c.44C>T (p.Pro15Leu) rs758753393 0.00001
NM_000046.5(ARSB):c.5G>A (p.Gly2Asp) rs1753133149 0.00001
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810 0.00001
NM_000046.5(ARSB):c.69C>T (p.Val23=) rs765737800 0.00001
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln) rs576541936 0.00001
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013 0.00001
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239 0.00001
NM_000046.5(ARSB):c.91T>C (p.Leu31=) rs1215729608 0.00001
NM_000046.4(ARSB):c.-112G>C rs886060798
NM_000046.5(ARSB):c.102G>A (p.Pro34=) rs1466555919
NM_000046.5(ARSB):c.103_118del (p.Pro35fs) rs2112583121
NM_000046.5(ARSB):c.107_129del (p.Gly36fs)
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.111G>C (p.Ser37=) rs2112583225
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.113del (p.Gly38fs) rs1349838988
NM_000046.5(ARSB):c.114del (p.Ala39fs) rs1554032252
NM_000046.5(ARSB):c.116_123del (p.Ala39fs) rs1554032243
NM_000046.5(ARSB):c.117C>T (p.Ala39=) rs1191475106
NM_000046.5(ARSB):c.118_134del (p.Gly40fs) rs398123123
NM_000046.5(ARSB):c.11G>T (p.Arg4Leu) rs2530672980
NM_000046.5(ARSB):c.120G>T (p.Gly40=) rs1200003501
NM_000046.5(ARSB):c.121dup (p.Ala41fs) rs1561197865
NM_000046.5(ARSB):c.123C>A (p.Ala41=) rs886038216
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) rs766772376
NM_000046.5(ARSB):c.132G>A (p.Pro44=)
NM_000046.5(ARSB):c.132G>T (p.Pro44=) rs749069139
NM_000046.5(ARSB):c.135C>G (p.Pro45=) rs2112582844
NM_000046.5(ARSB):c.136C>T (p.His46Tyr) rs1407551207
NM_000046.5(ARSB):c.147C>T (p.Phe49=) rs1753120464
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter) rs1554032222
NM_000046.5(ARSB):c.150G>A (p.Leu50=) rs2112582698
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) rs1554032220
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly) rs2112582627
NM_000046.5(ARSB):c.159C>T (p.Asp53=) rs2530670016
NM_000046.5(ARSB):c.15C>A (p.Gly5=) rs1313700683
NM_000046.5(ARSB):c.15C>G (p.Gly5=) rs1313700683
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala) rs1378501017
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser) rs2530669901
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg) rs2530669901
NM_000046.5(ARSB):c.167G>A (p.Gly56Asp) rs1554032211
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter) rs200712296
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys) rs1554032205
NM_000046.5(ARSB):c.173del (p.Asn58fs) rs1180759765
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn) rs1236509896
NM_000046.5(ARSB):c.176A>T (p.Asp59Val) rs1179935748
NM_000046.5(ARSB):c.17_21dup (p.Ser8fs) rs2530672763
NM_000046.5(ARSB):c.180C>A (p.Val60=) rs2112582420
NM_000046.5(ARSB):c.180C>T (p.Val60=) rs2112582420
NM_000046.5(ARSB):c.189C>T (p.His63=) rs1193937972
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) rs1554032196
NM_000046.5(ARSB):c.18G>A (p.Ala6=) rs1047766714
NM_000046.5(ARSB):c.18G>C (p.Ala6=) rs1047766714
NM_000046.5(ARSB):c.191del (p.Gly64fs) rs2530669392
NM_000046.5(ARSB):c.194C>T (p.Ser65Phe) rs1233331806
NM_000046.5(ARSB):c.195C>A (p.Ser65=) rs2112582289
NM_000046.5(ARSB):c.195C>T (p.Ser65=) rs2112582289
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.207_213dup (p.Leu72fs) rs1554032160
NM_000046.5(ARSB):c.208_215del (p.Pro70fs) rs1554032155
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.215_230delinsAGGAG (p.Leu72fs) rs2530668572
NM_000046.5(ARSB):c.217G>A (p.Asp73Asn)
NM_000046.5(ARSB):c.219del (p.Asp73fs) rs1554032153
NM_000046.5(ARSB):c.21G>A (p.Ala7=) rs1266041134
NM_000046.5(ARSB):c.21G>C (p.Ala7=) rs1266041134
NM_000046.5(ARSB):c.222G>A (p.Ala74=) rs1160145148
NM_000046.5(ARSB):c.223_232del (p.Leu75fs) rs1554032145
NM_000046.5(ARSB):c.223del (p.Leu75fs) rs2530668714
NM_000046.5(ARSB):c.225G>A (p.Leu75=) rs1362656468
NM_000046.5(ARSB):c.228G>A (p.Ala76=) rs2530668604
NM_000046.5(ARSB):c.230C>T (p.Ala77Val)
NM_000046.5(ARSB):c.235G>A (p.Gly79Arg)
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.238del (p.Val80fs) rs431905493
NM_000046.5(ARSB):c.241C>T (p.Leu81Phe) rs755284592
NM_000046.5(ARSB):c.244C>G (p.Leu82Val) rs1753105092
NM_000046.5(ARSB):c.244C>T (p.Leu82=) rs1753105092
NM_000046.5(ARSB):c.245T>A (p.Leu82Gln)
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.246G>C (p.Leu82=)
NM_000046.5(ARSB):c.246G>T (p.Leu82=) rs1035210606
NM_000046.5(ARSB):c.247_248del (p.Asp83fs) rs1554032131
NM_000046.5(ARSB):c.253T>C (p.Tyr85His) rs1554032129
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) rs969231209
NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter) rs780507196
NM_000046.5(ARSB):c.257del (p.Tyr86fs) rs1554032122
NM_000046.5(ARSB):c.260C>G (p.Thr87Arg) rs1413561387
NM_000046.5(ARSB):c.263dup (p.Pro89fs) rs1554032118
NM_000046.5(ARSB):c.264G>A (p.Gln88=) rs750947605
NM_000046.5(ARSB):c.264G>C (p.Gln88His) rs750947605
NM_000046.5(ARSB):c.264G>T (p.Gln88His) rs750947605
NM_000046.5(ARSB):c.267G>A (p.Pro89=) rs573453966
NM_000046.5(ARSB):c.269T>C (p.Leu90Pro) rs1580169508
NM_000046.5(ARSB):c.270_274del (p.Cys91fs) rs1554032110
NM_000046.5(ARSB):c.271T>C (p.Cys91Arg) rs1554032113
NM_000046.5(ARSB):c.271T>G (p.Cys91Gly) rs1554032113
NM_000046.5(ARSB):c.272G>A (p.Cys91Tyr) rs1554032112
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys) rs751010538
NM_000046.5(ARSB):c.277C>T (p.Pro93Ser) rs1554032104
NM_000046.5(ARSB):c.278C>T (p.Pro93Leu) rs1339096448
NM_000046.5(ARSB):c.281C>A (p.Ser94Ter) rs1554032099
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) rs1554032099
NM_000046.5(ARSB):c.282G>A (p.Ser94=) rs2112581145
NM_000046.5(ARSB):c.283C>A (p.Arg95=) rs1201268402
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp) rs1201268402
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu) rs118203942
NM_000046.5(ARSB):c.285G>A (p.Arg95=) rs763502806
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.289C>A (p.Gln97Lys) rs1554032094
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter) rs1554032094
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg) rs886039914
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln) rs1554032090
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg) rs1554032090
NM_000046.5(ARSB):c.300T>C (p.Thr100=) rs1753094740
NM_000046.5(ARSB):c.300_312+18del rs2112580593
NM_000046.5(ARSB):c.302G>A (p.Gly101Asp) rs2112580877
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser) rs2530666753
NM_000046.5(ARSB):c.306C>G (p.Arg102=) rs776741493
NM_000046.5(ARSB):c.307_312+147del rs1554089838
NM_000046.5(ARSB):c.309C>T (p.Tyr103=) rs1372316156
NM_000046.5(ARSB):c.30C>G (p.Pro10=) rs2530672656
NM_000046.5(ARSB):c.310C>A (p.Gln104Lys)
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter) rs1753093650
NM_000046.5(ARSB):c.312+14C>A rs1293997321
NM_000046.5(ARSB):c.312+14C>T rs1293997321
NM_000046.5(ARSB):c.312+14_312+18del rs2530666321
NM_000046.5(ARSB):c.312+14_312+22del rs1425725676
NM_000046.5(ARSB):c.312+15C>G rs780090383
NM_000046.5(ARSB):c.312+15del rs527878035
NM_000046.5(ARSB):c.312+17C>G rs2530666341
NM_000046.5(ARSB):c.312+18C>T rs2530666314
NM_000046.5(ARSB):c.312+19_312+36del rs762417834
NM_000046.5(ARSB):c.312+19_312+41del rs2530665919
NM_000046.5(ARSB):c.312+2T>G rs2530666598
NM_000046.5(ARSB):c.312+7G>C
NM_000046.5(ARSB):c.312+8_312+16dup rs2530666370
NM_000046.5(ARSB):c.312+9C>A rs2112580691
NM_000046.5(ARSB):c.31C>T (p.Arg11Ter) rs1753131019
NM_000046.5(ARSB):c.33A>G (p.Arg11=) rs2530672612
NM_000046.5(ARSB):c.36C>A (p.Gly12=) rs1580170993
NM_000046.5(ARSB):c.46C>G (p.Arg16Gly) rs2530672416
NM_000046.5(ARSB):c.48G>A (p.Arg16=) rs2530672367
NM_000046.5(ARSB):c.48G>C (p.Arg16=) rs2530672367
NM_000046.5(ARSB):c.54del (p.Leu19fs) rs2530672292
NM_000046.5(ARSB):c.57C>G (p.Leu19=)
NM_000046.5(ARSB):c.60C>T (p.Leu20=) rs2112583734
NM_000046.5(ARSB):c.63C>G (p.Pro21=) rs1221636759
NM_000046.5(ARSB):c.63C>T (p.Pro21=) rs1221636759
NM_000046.5(ARSB):c.64dup (p.Val22fs) rs2112583680
NM_000046.5(ARSB):c.6T>A (p.Gly2=) rs2530673058
NM_000046.5(ARSB):c.76CTG[6] (p.Leu32_Ala33insLeu) rs752671202
NM_000046.5(ARSB):c.76CTG[7] (p.Leu32_Ala33insLeuLeu) rs752671202
NM_000046.5(ARSB):c.79C>T (p.Leu27=)
NM_000046.5(ARSB):c.7C>T (p.Pro3Ser) rs887343928
NM_000046.5(ARSB):c.85C>T (p.Leu29=) rs2530671810
NM_000046.5(ARSB):c.8C>T (p.Pro3Leu)
NM_000046.5(ARSB):c.90G>A (p.Leu30=) rs2530671652
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.92T>C (p.Leu31Ser) rs2530671613
NM_000046.5(ARSB):c.94T>C (p.Leu32=) rs2112583408
NM_000046.5(ARSB):c.99G>A (p.Ala33=) rs1446813575
NM_000046.5(ARSB):c.9G>C (p.Pro3=) rs1289000597

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