ClinVar Miner

List of variants in gene ARSB reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 436
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924 0.01223
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029 0.00947
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158 0.00106
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977 0.00106
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667 0.00088
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603 0.00082
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 0.00061
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780 0.00045
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980 0.00039
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser) rs145553034 0.00016
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr) rs201234153 0.00016
NM_000046.5(ARSB):c.750A>G (p.Glu250=) rs200985327 0.00015
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833 0.00013
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654 0.00013
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396 0.00012
NM_000046.5(ARSB):c.393G>T (p.Gln131His) rs139174369 0.00010
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile) rs199931771 0.00010
NM_000046.5(ARSB):c.1122C>T (p.Phe374=) rs149886659 0.00009
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala) rs769542268 0.00009
NM_000046.5(ARSB):c.1152C>T (p.Ser384=) rs747829428 0.00008
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00008
NM_000046.5(ARSB):c.918G>A (p.Leu306=) rs755631948 0.00008
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000046.5(ARSB):c.1155A>G (p.Pro385=) rs778672342 0.00006
NM_000046.5(ARSB):c.1534G>A (p.Val512Met) rs201928777 0.00006
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342 0.00006
NM_000046.5(ARSB):c.1336+7del rs748129076 0.00005
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys) rs202134230 0.00005
NM_000046.5(ARSB):c.658A>G (p.Ile220Val) rs202130413 0.00005
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641 0.00005
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531 0.00004
NM_000046.5(ARSB):c.1142+18T>G rs758055045 0.00004
NM_000046.5(ARSB):c.1142+9A>C rs756793742 0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.1440C>T (p.Asp480=) rs556943300 0.00004
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile) rs138643812 0.00004
NM_000046.5(ARSB):c.384C>G (p.Leu128=) rs747605575 0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895 0.00004
NM_000046.5(ARSB):c.690+14C>T rs757236770 0.00004
NM_000046.5(ARSB):c.704A>G (p.Tyr235Cys) rs745804096 0.00004
NM_000046.5(ARSB):c.879G>A (p.Thr293=) rs755579897 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000046.5(ARSB):c.975C>T (p.Gly325=) rs75766476 0.00004
NM_000046.5(ARSB):c.1336+2T>G rs768012515 0.00003
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908 0.00003
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827 0.00003
NM_000046.5(ARSB):c.313-14T>A rs764757378 0.00003
NM_000046.5(ARSB):c.401A>G (p.Lys134Arg) rs371631385 0.00003
NM_000046.5(ARSB):c.501A>G (p.Gly167=) rs774949257 0.00003
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271 0.00003
NM_000046.5(ARSB):c.960C>T (p.Ser320=) rs762614315 0.00003
NM_000046.5(ARSB):c.1125C>T (p.Asp375=) rs780432111 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000046.5(ARSB):c.1198G>T (p.Val400Leu) rs570630772 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.1296A>T (p.Ala432=) rs1471453713 0.00002
NM_000046.5(ARSB):c.1387C>A (p.Pro463Thr) rs748137130 0.00002
NM_000046.5(ARSB):c.1425T>C (p.Phe475=) rs778250810 0.00002
NM_000046.5(ARSB):c.1480A>G (p.Ile494Val) rs140415504 0.00002
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000046.5(ARSB):c.963G>A (p.Leu321=) rs932761237 0.00002
NM_000046.5(ARSB):c.1023C>T (p.Gly341=) rs769067669 0.00001
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln) rs148067062 0.00001
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.1143-4C>A rs371644454 0.00001
NM_000046.5(ARSB):c.1143-5T>C rs777189032 0.00001
NM_000046.5(ARSB):c.1214-8C>A rs766561160 0.00001
NM_000046.5(ARSB):c.1224C>T (p.Asn408=) rs762454192 0.00001
NM_000046.5(ARSB):c.1232C>T (p.Ala411Val) rs554258996 0.00001
NM_000046.5(ARSB):c.1326G>A (p.Thr442=) rs537543103 0.00001
NM_000046.5(ARSB):c.1336+1G>A rs376233975 0.00001
NM_000046.5(ARSB):c.1337-6T>C rs758986089 0.00001
NM_000046.5(ARSB):c.1338C>T (p.Gly446=) rs1165970318 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.1389C>T (p.Pro463=) rs774111900 0.00001
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly) rs745885140 0.00001
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter) rs1234650208 0.00001
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp) rs758641798 0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000046.5(ARSB):c.1468G>A (p.Glu490Lys) rs1226339111 0.00001
NM_000046.5(ARSB):c.1482C>T (p.Ile494=) rs767372619 0.00001
NM_000046.5(ARSB):c.1488A>G (p.Thr496=) rs1233444230 0.00001
NM_000046.5(ARSB):c.1584G>A (p.Val528=) rs1028337311 0.00001
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000046.5(ARSB):c.324T>C (p.Gly108=) rs1024390842 0.00001
NM_000046.5(ARSB):c.339A>T (p.Ile113=) rs762897195 0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939 0.00001
NM_000046.5(ARSB):c.385C>T (p.Leu129=) rs1421401801 0.00001
NM_000046.5(ARSB):c.429C>T (p.Val143=) rs775488835 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.499+10A>G rs779812696 0.00001
NM_000046.5(ARSB):c.500-7C>A rs1322794828 0.00001
NM_000046.5(ARSB):c.539G>A (p.Arg180His) rs139788949 0.00001
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808 0.00001
NM_000046.5(ARSB):c.567C>G (p.Val189=) rs1396554870 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.572G>A (p.Arg191Gln) rs760875018 0.00001
NM_000046.5(ARSB):c.597C>T (p.Gly199=) rs570750353 0.00001
NM_000046.5(ARSB):c.617A>G (p.Tyr206Cys) rs775204710 0.00001
NM_000046.5(ARSB):c.628T>C (p.Tyr210His) rs769313336 0.00001
NM_000046.5(ARSB):c.663C>T (p.Ala221=) rs534594272 0.00001
NM_000046.5(ARSB):c.690+11C>T rs1178359653 0.00001
NM_000046.5(ARSB):c.691-1G>A rs778868348 0.00001
NM_000046.5(ARSB):c.714C>G (p.Leu238=) rs1293017800 0.00001
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121 0.00001
NM_000046.5(ARSB):c.726T>C (p.His242=) rs1319944737 0.00001
NM_000046.5(ARSB):c.753C>T (p.Tyr251=) rs765711776 0.00001
NM_000046.5(ARSB):c.783G>A (p.Lys261=) rs575119903 0.00001
NM_000046.5(ARSB):c.784A>G (p.Asn262Asp) rs1561524845 0.00001
NM_000046.5(ARSB):c.898+7C>T rs573613390 0.00001
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg) rs398123124 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000046.5(ARSB):c.984G>C (p.Gly328=) rs762523255 0.00001
NC_000005.10:g.(?_78964406)_(78969202_?)del
NC_000005.9:g.(?_78076210)_(78181660_?)del
NC_000005.9:g.(?_78111899)_(78135259_?)del
NC_000005.9:g.(?_78135159)_(78135269_?)dup
NC_000005.9:g.(?_78135159)_(78281071_?)dup
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000005.9:g.(?_78251108)_(78251335_?)del
NC_000005.9:g.(?_78251108)_(78281081_?)del
NC_000005.9:g.(?_78260219)_(78265035_?)del
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.5(ARSB):c.1005C>T (p.Pro335=)
NM_000046.5(ARSB):c.1011G>A (p.Leu337=) rs2112211547
NM_000046.5(ARSB):c.1024G>A (p.Val342Met)
NM_000046.5(ARSB):c.1026G>A (p.Val342=) rs2112211473
NM_000046.5(ARSB):c.1033C>T (p.Arg345Trp)
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter) rs1747989303
NM_000046.5(ARSB):c.1046A>T (p.His349Leu)
NM_000046.5(ARSB):c.1047C>T (p.His349=)
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe) rs756671977
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
NM_000046.5(ARSB):c.1065A>G (p.Pro355=) rs1580000175
NM_000046.5(ARSB):c.1069C>G (p.Leu357Val) rs1310322781
NM_000046.5(ARSB):c.1071C>A (p.Leu357=)
NM_000046.5(ARSB):c.1071C>T (p.Leu357=) rs1216502750
NM_000046.5(ARSB):c.1074G>A (p.Val358=) rs2112211034
NM_000046.5(ARSB):c.1081G>T (p.Ala361Ser)
NM_000046.5(ARSB):c.1089A>G (p.Gly363=)
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr) rs1457848169
NM_000046.5(ARSB):c.1095C>A (p.Thr365=) rs2112210847
NM_000046.5(ARSB):c.1128G>A (p.Val376=)
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.1140_1142+2del rs1747980506
NM_000046.5(ARSB):c.1142+10C>T
NM_000046.5(ARSB):c.1142+11C>T
NM_000046.5(ARSB):c.1142+12C>T
NM_000046.5(ARSB):c.1142+14G>A
NM_000046.5(ARSB):c.1142+2T>A rs781510986
NM_000046.5(ARSB):c.1142+7A>T rs1308281232
NM_000046.5(ARSB):c.1143-16A>C
NM_000046.5(ARSB):c.1143-1G>T
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1161C>A (p.Pro387=)
NM_000046.5(ARSB):c.1161C>T (p.Pro387=)
NM_000046.5(ARSB):c.1170G>A (p.Glu390=)
NM_000046.5(ARSB):c.1173G>C (p.Leu391=) rs2111983867
NM_000046.5(ARSB):c.1174C>T (p.Leu392=) rs2111983845
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.1181A>G (p.Asn394Ser)
NM_000046.5(ARSB):c.1190C>T (p.Pro397Leu)
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1203C>T (p.Asp401=) rs2112718154
NM_000046.5(ARSB):c.1206T>C (p.Ser402=)
NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter) rs771296632
NM_000046.5(ARSB):c.1208C>T (p.Ser403Leu)
NM_000046.5(ARSB):c.1209A>G (p.Ser403=)
NM_000046.5(ARSB):c.1211C>T (p.Pro404Leu)
NM_000046.5(ARSB):c.1213+15A>G
NM_000046.5(ARSB):c.1213+18G>A
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214-12A>G
NM_000046.5(ARSB):c.1214-12dup
NM_000046.5(ARSB):c.1214-14C>T
NM_000046.5(ARSB):c.1214-15A>T rs1353542088
NM_000046.5(ARSB):c.1214-17A>C
NM_000046.5(ARSB):c.1214-1G>A
NM_000046.5(ARSB):c.1214-2A>T rs1554069808
NM_000046.5(ARSB):c.1214-4C>T
NM_000046.5(ARSB):c.1214-5C>A rs1580962835
NM_000046.5(ARSB):c.1214-5C>G rs1580962835
NM_000046.5(ARSB):c.1214-6T>G
NM_000046.5(ARSB):c.1247A>T (p.Asp416Val)
NM_000046.5(ARSB):c.1250C>T (p.Ser417Phe)
NM_000046.5(ARSB):c.1254T>C (p.Ser418=) rs1362185630
NM_000046.5(ARSB):c.1272C>A (p.Ala424=) rs2112619347
NM_000046.5(ARSB):c.1281A>G (p.Thr427=)
NM_000046.5(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp) rs1748937951
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1305T>C (p.His435=)
NM_000046.5(ARSB):c.1308A>C (p.Gly436=) rs753899382
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
NM_000046.5(ARSB):c.1320C>T (p.Leu440=)
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1326G>T (p.Thr442=) rs537543103
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu) rs1554069775
NM_000046.5(ARSB):c.1336+12A>G
NM_000046.5(ARSB):c.1336+18G>A
NM_000046.5(ARSB):c.1336+2T>C rs768012515
NM_000046.5(ARSB):c.1336+4G>T
NM_000046.5(ARSB):c.1336+8C>A
NM_000046.5(ARSB):c.1336+8C>T
NM_000046.5(ARSB):c.1337-14G>C
NM_000046.5(ARSB):c.1337-15del
NM_000046.5(ARSB):c.1337-16T>C
NM_000046.5(ARSB):c.1337-19GTTTT[3] rs780397796
NM_000046.5(ARSB):c.1337-19_1337-18del
NM_000046.5(ARSB):c.1337-7T>C
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1342G>A (p.Gly448Ser)
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=) rs759008131
NM_000046.5(ARSB):c.1353C>T (p.Phe451=) rs2112617431
NM_000046.5(ARSB):c.1356T>C (p.Pro452=)
NM_000046.5(ARSB):c.1368A>G (p.Gln456=)
NM_000046.5(ARSB):c.1395A>G (p.Ser465=) rs2112617369
NM_000046.5(ARSB):c.1404A>C (p.Pro468=) rs1580961280
NM_000046.5(ARSB):c.1418G>A (p.Trp473Ter)
NM_000046.5(ARSB):c.1422C>T (p.Leu474=)
NM_000046.5(ARSB):c.1428T>C (p.Asp476=)
NM_000046.5(ARSB):c.1433del (p.Asp478fs)
NM_000046.5(ARSB):c.1434T>C (p.Asp478=) rs2112617302
NM_000046.5(ARSB):c.1438dup (p.Asp480fs) rs1167459660
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu) rs906245021
NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)
NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys) rs1748894464
NM_000046.5(ARSB):c.1482C>A (p.Ile494=)
NM_000046.5(ARSB):c.1488A>T (p.Thr496=)
NM_000046.5(ARSB):c.1491G>C (p.Lys497Asn)
NM_000046.5(ARSB):c.1499C>T (p.Ser500Phe)
NM_000046.5(ARSB):c.1504C>T (p.Leu502=)
NM_000046.5(ARSB):c.1506A>G (p.Leu502=)
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000046.5(ARSB):c.1521dup (p.His508fs)
NM_000046.5(ARSB):c.1530C>T (p.Val510=) rs2112617107
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.1545T>G (p.Pro515=)
NM_000046.5(ARSB):c.1548A>C (p.Ala516=) rs1158401003
NM_000046.5(ARSB):c.1554C>A (p.Asp518Glu) rs1233108073
NM_000046.5(ARSB):c.1557C>T (p.Pro519=) rs1748890674
NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys)
NM_000046.5(ARSB):c.1558del (p.Arg520fs) rs1160897474
NM_000046.5(ARSB):c.1560C>T (p.Arg520=) rs750093168
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr) rs1554069661
NM_000046.5(ARSB):c.1575C>A (p.Ala525=) rs2112617015
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.1578T>C (p.Thr526=) rs2112617006
NM_000046.5(ARSB):c.1581G>C (p.Gly527=)
NM_000046.5(ARSB):c.1590C>A (p.Gly530=) rs1580960941
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser) rs1554069655
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.313-11A>G
NM_000046.5(ARSB):c.313-16T>C
NM_000046.5(ARSB):c.313-19T>G
NM_000046.5(ARSB):c.315C>T (p.Ile105=) rs2112530668
NM_000046.5(ARSB):c.321A>G (p.Thr107=) rs2112530622
NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.327A>G (p.Leu109=)
NM_000046.5(ARSB):c.336A>G (p.Gln112=)
NM_000046.5(ARSB):c.339A>C (p.Ile113=)
NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)
NM_000046.5(ARSB):c.351T>C (p.Cys117=) rs2112530435
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
NM_000046.5(ARSB):c.354G>A (p.Gln118=)
NM_000046.5(ARSB):c.357C>T (p.Pro119=)
NM_000046.5(ARSB):c.359dup (p.Ser120fs)
NM_000046.5(ARSB):c.363T>C (p.Cys121=) rs2112530329
NM_000046.5(ARSB):c.370C>T (p.Leu124=)
NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)
NM_000046.5(ARSB):c.385del (p.Leu129fs) rs1752338387
NM_000046.5(ARSB):c.387G>A (p.Leu129=) rs1752337674
NM_000046.5(ARSB):c.387G>C (p.Leu129=)
NM_000046.5(ARSB):c.390C>G (p.Pro130=)
NM_000046.5(ARSB):c.399A>G (p.Leu133=) rs778723643
NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)
NM_000046.5(ARSB):c.410G>A (p.Gly137Asp)
NM_000046.5(ARSB):c.417T>C (p.Thr139=)
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.430G>C (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.432A>G (p.Gly144=)
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.441C>G (p.His147Gln) rs1752333074
NM_000046.5(ARSB):c.448A>G (p.Met150Val)
NM_000046.5(ARSB):c.468del (p.Pro157fs) rs2112529559
NM_000046.5(ARSB):c.474C>T (p.Thr158=) rs1042478077
NM_000046.5(ARSB):c.477C>T (p.Arg159=) rs966538858
NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.480A>G (p.Arg160=) rs2112529443
NM_000046.5(ARSB):c.492C>T (p.Thr164=) rs2112529378
NM_000046.5(ARSB):c.499+13C>G
NM_000046.5(ARSB):c.499+13C>T
NM_000046.5(ARSB):c.499+15C>T
NM_000046.5(ARSB):c.499+16A>G
NM_000046.5(ARSB):c.499+16_499+17del
NM_000046.5(ARSB):c.499+2T>A
NM_000046.5(ARSB):c.499+5T>C
NM_000046.5(ARSB):c.499+6G>A
NM_000046.5(ARSB):c.499+7G>A rs1334103341
NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)
NM_000046.5(ARSB):c.500-10A>G rs2112514597
NM_000046.5(ARSB):c.500-10A>T
NM_000046.5(ARSB):c.500-11C>T
NM_000046.5(ARSB):c.500-17G>A rs372317070
NM_000046.5(ARSB):c.500-17G>T
NM_000046.5(ARSB):c.500-18C>T
NM_000046.5(ARSB):c.500-4G>A rs2112514576
NM_000046.5(ARSB):c.500-4G>T rs2112514576
NM_000046.5(ARSB):c.500-8T>A
NM_000046.5(ARSB):c.523T>C (p.Tyr175His)
NM_000046.5(ARSB):c.531C>G (p.Ser177=) rs377234838
NM_000046.5(ARSB):c.531C>T (p.Ser177=) rs377234838
NM_000046.5(ARSB):c.532_533inv (p.His178Cys)
NM_000046.5(ARSB):c.534T>G (p.His178Gln)
NM_000046.5(ARSB):c.538C>T (p.Arg180Cys)
NM_000046.5(ARSB):c.540C>T (p.Arg180=)
NM_000046.5(ARSB):c.546A>G (p.Thr182=)
NM_000046.5(ARSB):c.551T>C (p.Ile184Thr)
NM_000046.5(ARSB):c.556G>A (p.Ala186Thr)
NM_000046.5(ARSB):c.559C>T (p.Leu187=)
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.582T>G (p.Leu194=)
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.593A>G (p.Asp198Gly) rs1406969234
NM_000046.5(ARSB):c.615A>G (p.Gly205=)
NM_000046.5(ARSB):c.625A>T (p.Met209Leu)
NM_000046.5(ARSB):c.654G>A (p.Arg218=) rs2112513773
NM_000046.5(ARSB):c.657T>C (p.Ala219=)
NM_000046.5(ARSB):c.666C>T (p.Leu222=) rs1752122294
NM_000046.5(ARSB):c.678T>C (p.His226=) rs1580135735
NM_000046.5(ARSB):c.680C>A (p.Pro227Gln)
NM_000046.5(ARSB):c.680del (p.Pro227fs)
NM_000046.5(ARSB):c.683C>T (p.Pro228Leu)
NM_000046.5(ARSB):c.689A>G (p.Lys230Arg)
NM_000046.5(ARSB):c.690+15T>C
NM_000046.5(ARSB):c.690+16A>C
NM_000046.5(ARSB):c.690+16A>G
NM_000046.5(ARSB):c.690+2T>G
NM_000046.5(ARSB):c.690+9T>C
NM_000046.5(ARSB):c.690+9del rs2112513488
NM_000046.5(ARSB):c.691-12C>T
NM_000046.5(ARSB):c.691-20T>C
NM_000046.5(ARSB):c.691-4C>T
NM_000046.5(ARSB):c.691-6T>C rs2112484612
NM_000046.5(ARSB):c.691-7T>C
NM_000046.5(ARSB):c.691-8C>T
NM_000046.5(ARSB):c.694C>T (p.Leu232=) rs1264190516
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.713T>A (p.Leu238His)
NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)
NM_000046.5(ARSB):c.723G>T (p.Val241=) rs199858121
NM_000046.5(ARSB):c.729_730delinsTT (p.Glu243_Pro244delinsAspSer) rs2112484265
NM_000046.5(ARSB):c.744T>A (p.Pro248=)
NM_000046.5(ARSB):c.745G>T (p.Glu249Ter)
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.755T>G (p.Leu252Trp)
NM_000046.5(ARSB):c.756G>A (p.Leu252=) rs544156449
NM_000046.5(ARSB):c.762A>T (p.Pro254=) rs2112484023
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.5(ARSB):c.777A>G (p.Gln259=)
NM_000046.5(ARSB):c.789G>A (p.Arg263=) rs2112483929
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.797A>G (p.Tyr266Cys)
NM_000046.5(ARSB):c.803G>T (p.Gly268Val) rs1554086400
NM_000046.5(ARSB):c.806T>C (p.Met269Thr)
NM_000046.5(ARSB):c.813C>T (p.Ser271=)
NM_000046.5(ARSB):c.822T>C (p.Asp274=)
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter) rs1580121683
NM_000046.5(ARSB):c.837T>C (p.Asn279=) rs1751673041
NM_000046.5(ARSB):c.838G>A (p.Val280Ile)
NM_000046.5(ARSB):c.846A>G (p.Ala282=)
NM_000046.5(ARSB):c.847G>C (p.Ala283Pro)
NM_000046.5(ARSB):c.861T>C (p.Ser287=)
NM_000046.5(ARSB):c.866_867insTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGCAGTGGGCT (p.Leu289_Trp290insGlyArgProArgArgAlaAspHisGluValLysArgSerArgProSerArgLeuLysArgTer) rs2112483439
NM_000046.5(ARSB):c.873C>A (p.Asn291Lys) rs2112483415
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu) rs1440962115
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn) rs1554086368
NM_000046.5(ARSB):c.891T>G (p.Phe297Leu)
NM_000046.5(ARSB):c.896C>T (p.Thr299Ile) rs2112483313
NM_000046.5(ARSB):c.898+10T>C
NM_000046.5(ARSB):c.898+14T>C
NM_000046.5(ARSB):c.898+1G>A rs1751669303
NM_000046.5(ARSB):c.898+9G>C
NM_000046.5(ARSB):c.899-10T>C
NM_000046.5(ARSB):c.899-16C>T
NM_000046.5(ARSB):c.899-17A>G
NM_000046.5(ARSB):c.899-4dup
NM_000046.5(ARSB):c.899-9G>A
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.5(ARSB):c.916_917del (p.Leu306fs)
NM_000046.5(ARSB):c.917T>C (p.Leu306Ser)
NM_000046.5(ARSB):c.921A>C (p.Ala307=) rs2112212439
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000046.5(ARSB):c.924G>C (p.Gly308=)
NM_000046.5(ARSB):c.925G>A (p.Gly309Ser)
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.942T>C (p.Leu314=) rs1748000092
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000046.5(ARSB):c.945A>G (p.Arg315=)
NM_000046.5(ARSB):c.951A>G (p.Arg317=) rs1318270777
NM_000046.5(ARSB):c.954A>G (p.Lys318=) rs2112212040
NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)
NM_000046.5(ARSB):c.963G>T (p.Leu321=)
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter) rs1554079318
NM_000046.5(ARSB):c.976G>A (p.Val326Ile)
NM_000046.5(ARSB):c.979C>A (p.Arg327=) rs773492223
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000046.5(ARSB):c.999A>G (p.Ala333=) rs1580000383

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