ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 6 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 599
Download table as spreadsheet
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.98C>T (p.Ala33Val) rs201168448 0.01022
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.82C>T (p.Leu28=) rs138587718 0.00101
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.88C>T (p.Leu30=) rs766870239 0.00051
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.185T>A (p.Phe62Tyr) rs779228581 0.00022
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.312+4C>T rs770927433 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.204C>A (p.Arg68=) rs559187375 0.00010
NM_000046.5(ARSB):c.240G>A (p.Val80=) rs368338486 0.00010
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.181G>A (p.Gly61Ser) rs375647920 0.00009
NM_000046.5(ARSB):c.312+8G>C rs774555967 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.54G>A (p.Leu18=) rs142781021 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.105G>A (p.Pro35=) rs1423589060 0.00004
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.261G>A (p.Thr87=) rs756411069 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.129G>A (p.Arg43=) rs761491971 0.00003
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.215T>C (p.Leu72Pro) rs397514441 0.00003
NM_000046.5(ARSB):c.29C>T (p.Pro10Leu) rs757310157 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.43C>G (p.Pro15Ala) rs778159305 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.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.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595 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.117C>T (p.Ala39=) rs1191475106 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.144C>T (p.Val48=) rs1333402479 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.163C>T (p.Leu55=) rs769716793 0.00001
NM_000046.5(ARSB):c.174C>T (p.Asn58=) rs1753117512 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.231C>T (p.Ala77=) rs542520705 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.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.264G>A (p.Gln88=) rs750947605 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.312+10G>T rs901158566 0.00001
NM_000046.5(ARSB):c.312+7G>A rs1315861475 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.66C>T (p.Val22=) rs895965810 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.74C>A (p.Pro25Gln) rs576541936 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.84G>A (p.Leu28=) rs754324013 0.00001
NM_000046.5(ARSB):c.898+7C>T rs573613390 0.00001
NM_000046.5(ARSB):c.91T>C (p.Leu31=) rs1215729608 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.(?_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.(?_78135159)_(78135269_?)dup
NC_000005.9:g.(?_78135159)_(78281071_?)dup
NC_000005.9:g.(?_78181387)_(78181670_?)del
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000005.9:g.(?_78251098)_(78251345_?)dup
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_000046.4(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.102G>A (p.Pro34=) rs1466555919
NM_000046.5(ARSB):c.1033C>T (p.Arg345Trp)
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter) rs1747989303
NM_000046.5(ARSB):c.103_118del (p.Pro35fs) rs2112583121
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.108_120del (p.Ser37fs) rs1028653411
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.111G>C (p.Ser37=) rs2112583225
NM_000046.5(ARSB):c.1128G>A (p.Val376=)
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) rs1349838988
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.118_134del (p.Gly40fs) rs398123123
NM_000046.5(ARSB):c.1190C>T (p.Pro397Leu)
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.11G>T (p.Arg4Leu)
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.120G>T (p.Gly40=)
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.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.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.132G>T (p.Pro44=) rs749069139
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.135C>G (p.Pro45=) rs2112582844
NM_000046.5(ARSB):c.1368A>G (p.Gln456=)
NM_000046.5(ARSB):c.136C>T (p.His46Tyr)
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.141G>C (p.Leu47=)
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.147C>T (p.Phe49=)
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.150G>A (p.Leu50=) rs2112582698
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.158A>G (p.Asp53Gly) rs2112582627
NM_000046.5(ARSB):c.159C>T (p.Asp53=)
NM_000046.5(ARSB):c.15C>A (p.Gly5=)
NM_000046.5(ARSB):c.15C>G (p.Gly5=) rs1313700683
NM_000046.5(ARSB):c.15C>T (p.Gly5=)
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.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala) rs1378501017
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)
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.180C>A (p.Val60=)
NM_000046.5(ARSB):c.180C>T (p.Val60=)
NM_000046.5(ARSB):c.189C>T (p.His63=)
NM_000046.5(ARSB):c.18G>A (p.Ala6=)
NM_000046.5(ARSB):c.18G>C (p.Ala6=) rs1047766714
NM_000046.5(ARSB):c.195C>A (p.Ser65=)
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.210G>A (p.Pro70=)
NM_000046.5(ARSB):c.21G>A (p.Ala7=) rs1266041134
NM_000046.5(ARSB):c.21G>C (p.Ala7=)
NM_000046.5(ARSB):c.222G>A (p.Ala74=) rs1160145148
NM_000046.5(ARSB):c.223del (p.Leu75fs)
NM_000046.5(ARSB):c.225G>A (p.Leu75=) rs1362656468
NM_000046.5(ARSB):c.225G>T (p.Leu75=)
NM_000046.5(ARSB):c.228G>A (p.Ala76=)
NM_000046.5(ARSB):c.234C>G (p.Gly78=)
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.241C>T (p.Leu81Phe)
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)
NM_000046.5(ARSB):c.244C>T (p.Leu82=)
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.246G>T (p.Leu82=) rs1035210606
NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter)
NM_000046.5(ARSB):c.25T>C (p.Leu9=)
NM_000046.5(ARSB):c.267G>A (p.Pro89=) rs573453966
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys) rs751010538
NM_000046.5(ARSB):c.282G>A (p.Ser94=) rs2112581145
NM_000046.5(ARSB):c.283C>A (p.Arg95=)
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.289C>T (p.Gln97Ter) rs1554032094
NM_000046.5(ARSB):c.291G>C (p.Gln97His)
NM_000046.5(ARSB):c.300T>C (p.Thr100=) rs1753094740
NM_000046.5(ARSB):c.302G>A (p.Gly101Asp) rs2112580877
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)
NM_000046.5(ARSB):c.306C>G (p.Arg102=)
NM_000046.5(ARSB):c.309C>T (p.Tyr103=)
NM_000046.5(ARSB):c.30C>G (p.Pro10=)
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter) rs1753093650
NM_000046.5(ARSB):c.312+11C>T
NM_000046.5(ARSB):c.312+12C>T
NM_000046.5(ARSB):c.312+14C>A rs1293997321
NM_000046.5(ARSB):c.312+14C>G
NM_000046.5(ARSB):c.312+14C>T
NM_000046.5(ARSB):c.312+14_312+18del
NM_000046.5(ARSB):c.312+14_312+22del rs1425725676
NM_000046.5(ARSB):c.312+15C>G
NM_000046.5(ARSB):c.312+15del
NM_000046.5(ARSB):c.312+16G>A
NM_000046.5(ARSB):c.312+17C>G
NM_000046.5(ARSB):c.312+18C>T
NM_000046.5(ARSB):c.312+19_312+36del rs762417834
NM_000046.5(ARSB):c.312+19_312+41del
NM_000046.5(ARSB):c.312+8G>A rs774555967
NM_000046.5(ARSB):c.312+8_312+16dup
NM_000046.5(ARSB):c.312+9C>A rs2112580691
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.31C>T (p.Arg11Ter)
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.33A>G (p.Arg11=)
NM_000046.5(ARSB):c.34G>C (p.Gly12Arg)
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.36C>A (p.Gly12=) rs1580170993
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.39C>T (p.Pro13=)
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.44C>T (p.Pro15Leu)
NM_000046.5(ARSB):c.468del (p.Pro157fs) rs2112529559
NM_000046.5(ARSB):c.46C>G (p.Arg16Gly)
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.48G>A (p.Arg16=)
NM_000046.5(ARSB):c.48G>C (p.Arg16=)
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.54del (p.Leu19fs)
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.5G>A (p.Gly2Asp)
NM_000046.5(ARSB):c.60C>T (p.Leu20=) rs2112583734
NM_000046.5(ARSB):c.615A>G (p.Gly205=)
NM_000046.5(ARSB):c.625A>T (p.Met209Leu)
NM_000046.5(ARSB):c.63C>G (p.Pro21=) rs1221636759
NM_000046.5(ARSB):c.63C>T (p.Pro21=)
NM_000046.5(ARSB):c.64dup (p.Val22fs) rs2112583680
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.69C>T (p.Val23=) rs765737800
NM_000046.5(ARSB):c.6T>A (p.Gly2=)
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.76CTG[6] (p.Leu32_Ala33insLeu)
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.85C>T (p.Leu29=)
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.90G>A (p.Leu30=)
NM_000046.5(ARSB):c.916_917del (p.Leu306fs)
NM_000046.5(ARSB):c.917T>C (p.Leu306Ser)
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
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.92T>C (p.Leu31Ser)
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.94T>C (p.Leu32=) rs2112583408
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
NM_000046.5(ARSB):c.99G>A (p.Ala33=)
NM_000046.5(ARSB):c.9G>A (p.Pro3=)
NM_000046.5(ARSB):c.9G>C (p.Pro3=) rs1289000597

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.