ClinVar Miner

List of variants in gene ARSB reported by Invitae

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Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP
NC_000005.10:g.(?_78885574)_(78885837_?)del
NC_000005.10:g.(?_78964406)_(78969202_?)del
NC_000005.9:g.(?_78111899)_(78135259_?)del
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000005.9:g.(?_78260219)_(78265035_?)del
NC_000005.9:g.(?_78280740)_(78281091_?)del
NM_000046.5(ARSB):c.1011G>A (p.Leu337=)
NM_000046.5(ARSB):c.1026G>A (p.Val342=)
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln)
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)
NM_000046.5(ARSB):c.103_118del (p.Pro35fs)
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
NM_000046.5(ARSB):c.1065A>G (p.Pro355=) rs1580000175
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029
NM_000046.5(ARSB):c.1071C>T (p.Leu357=)
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr)
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980
NM_000046.5(ARSB):c.1125C>T (p.Asp375=)
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.113del (p.Gly38fs)
NM_000046.5(ARSB):c.1140_1142+2del
NM_000046.5(ARSB):c.1142+7A>T
NM_000046.5(ARSB):c.1142+9A>C
NM_000046.5(ARSB):c.1143-1G>C rs431905495
NM_000046.5(ARSB):c.1143-4C>A
NM_000046.5(ARSB):c.1143-5T>C rs777189032
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.5(ARSB):c.1152C>T (p.Ser384=)
NM_000046.5(ARSB):c.1155A>G (p.Pro385=)
NM_000046.5(ARSB):c.1174C>T (p.Leu392=)
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396
NM_000046.5(ARSB):c.1203C>T (p.Asp401=)
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214-2A>T
NM_000046.5(ARSB):c.1214-5C>G rs1580962835
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.121dup (p.Ala41fs)
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
NM_000046.5(ARSB):c.1254T>C (p.Ser418=)
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala) rs769542268
NM_000046.5(ARSB):c.1272C>A (p.Ala424=)
NM_000046.5(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp)
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
NM_000046.5(ARSB):c.1308A>C (p.Gly436=)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1326G>A (p.Thr442=)
NM_000046.5(ARSB):c.132G>T (p.Pro44=)
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu) rs1554069775
NM_000046.5(ARSB):c.1336+7del rs748129076
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1337-6T>C
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=)
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1389C>T (p.Pro463=)
NM_000046.5(ARSB):c.1395A>G (p.Ser465=)
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly)
NM_000046.5(ARSB):c.1404A>C (p.Pro468=) rs1580961280
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)
NM_000046.5(ARSB):c.1425T>C (p.Phe475=)
NM_000046.5(ARSB):c.1434T>C (p.Asp478=)
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp)
NM_000046.5(ARSB):c.1438dup (p.Asp480fs) rs1167459660
NM_000046.5(ARSB):c.1440C>T (p.Asp480=)
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
NM_000046.5(ARSB):c.1482C>T (p.Ile494=)
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
NM_000046.5(ARSB):c.1488A>G (p.Thr496=)
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827
NM_000046.5(ARSB):c.150G>A (p.Leu50=)
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833
NM_000046.5(ARSB):c.1548A>C (p.Ala516=)
NM_000046.5(ARSB):c.1558del (p.Arg520fs)
NM_000046.5(ARSB):c.1560C>T (p.Arg520=)
NM_000046.5(ARSB):c.1575C>A (p.Ala525=)
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.1578T>C (p.Thr526=)
NM_000046.5(ARSB):c.1584G>A (p.Val528=)
NM_000046.5(ARSB):c.1590C>A (p.Gly530=) rs1580960941
NM_000046.5(ARSB):c.15C>G (p.Gly5=)
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)
NM_000046.5(ARSB):c.163C>T (p.Leu55=)
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter)
NM_000046.5(ARSB):c.173del (p.Asn58fs)
NM_000046.5(ARSB):c.18G>C (p.Ala6=)
NM_000046.5(ARSB):c.204C>A (p.Arg68=)
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.222G>A (p.Ala74=)
NM_000046.5(ARSB):c.231C>T (p.Ala77=)
NM_000046.5(ARSB):c.240G>A (p.Val80=)
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.261G>A (p.Thr87=)
NM_000046.5(ARSB):c.264G>A (p.Gln88=)
NM_000046.5(ARSB):c.282G>A (p.Ser94=)
NM_000046.5(ARSB):c.300T>C (p.Thr100=)
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter)
NM_000046.5(ARSB):c.312+4C>T
NM_000046.5(ARSB):c.312+8G>A
NM_000046.5(ARSB):c.312+8G>C rs774555967
NM_000046.5(ARSB):c.313-12T>C
NM_000046.5(ARSB):c.315C>T (p.Ile105=)
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.324T>C (p.Gly108=)
NM_000046.5(ARSB):c.339A>T (p.Ile113=)
NM_000046.5(ARSB):c.351T>C (p.Cys117=)
NM_000046.5(ARSB):c.363T>C (p.Cys121=)
NM_000046.5(ARSB):c.36C>A (p.Gly12=) rs1580170993
NM_000046.5(ARSB):c.384C>G (p.Leu128=)
NM_000046.5(ARSB):c.385C>T (p.Leu129=)
NM_000046.5(ARSB):c.385del (p.Leu129fs)
NM_000046.5(ARSB):c.393G>T (p.Gln131His)
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.429C>T (p.Val143=)
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala)
NM_000046.5(ARSB):c.441C>G (p.His147Gln)
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158
NM_000046.5(ARSB):c.468del (p.Pro157fs)
NM_000046.5(ARSB):c.474C>T (p.Thr158=)
NM_000046.5(ARSB):c.477C>T (p.Arg159=)
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.499+10A>G
NM_000046.5(ARSB):c.499+7G>A
NM_000046.5(ARSB):c.500-10A>G
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895
NM_000046.5(ARSB):c.531C>G (p.Ser177=)
NM_000046.5(ARSB):c.531C>T (p.Ser177=)
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.60C>T (p.Leu20=)
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.63C>G (p.Pro21=)
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654
NM_000046.5(ARSB):c.654G>A (p.Arg218=)
NM_000046.5(ARSB):c.658A>G (p.Ile220Val)
NM_000046.5(ARSB):c.663C>T (p.Ala221=)
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810
NM_000046.5(ARSB):c.678T>C (p.His226=) rs1580135735
NM_000046.5(ARSB):c.691-6T>C
NM_000046.5(ARSB):c.694C>T (p.Leu232=)
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.714C>G (p.Leu238=)
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121
NM_000046.5(ARSB):c.723G>T (p.Val241=) rs199858121
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.756G>A (p.Leu252=) rs544156449
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595
NM_000046.5(ARSB):c.76CTG[4] (p.Leu32del) rs752671202
NM_000046.5(ARSB):c.783G>A (p.Lys261=)
NM_000046.5(ARSB):c.789G>A (p.Arg263=)
NM_000046.5(ARSB):c.790C>A (p.His264Asn) rs558569339
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.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.837T>C (p.Asn279=)
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013
NM_000046.5(ARSB):c.879G>A (p.Thr293=)
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu)
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
NM_000046.5(ARSB):c.918G>A (p.Leu306=)
NM_000046.5(ARSB):c.91T>C (p.Leu31=)
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.921A>C (p.Ala307=)
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641
NM_000046.5(ARSB):c.942T>C (p.Leu314=)
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.963G>A (p.Leu321=)
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter) rs1554079318
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
NM_000046.5(ARSB):c.979C>A (p.Arg327=)
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000046.5(ARSB):c.999A>G (p.Ala333=) rs1580000383
NM_000046.5(ARSB):c.9G>C (p.Pro3=)
NM_198709.3(ARSB):c.-310-12dup rs11424557

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