ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis type 6

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 299
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HGVS dbSNP gnomAD frequency
NM_000046.4(ARSB):c.-265G>A rs72764913 0.02482
NM_000046.4(ARSB):c.-246C>T rs180784385 0.00598
NM_000046.5(ARSB):c.*2708G>A rs141667208 0.00581
NM_000046.5(ARSB):c.*1635G>A rs35597782 0.00552
NM_000046.5(ARSB):c.*2408A>G rs13354324 0.00491
NM_000046.4(ARSB):c.-239T>A rs115264286 0.00346
NM_000046.5(ARSB):c.*2013G>A rs113059935 0.00334
NM_000046.5(ARSB):c.*1146G>A rs141001994 0.00333
NM_000046.5(ARSB):c.*2707C>T rs183918206 0.00285
NM_000046.5(ARSB):c.*1153C>A rs116753785 0.00278
NM_000046.5(ARSB):c.*2608G>A rs569254528 0.00248
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000046.5(ARSB):c.*994C>A rs190632756 0.00186
NM_000046.4(ARSB):c.-331G>A rs538223324 0.00144
NM_000046.3(ARSB):c.-726C>T rs116419942 0.00114
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.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000046.5(ARSB):c.*1420G>A rs79166190 0.00073
NM_000046.5(ARSB):c.*965A>G rs144818735 0.00070
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000046.5(ARSB):c.*3047T>C rs560253823 0.00052
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239 0.00051
NM_000046.5(ARSB):c.*810C>T rs777160780 0.00048
NM_000046.5(ARSB):c.*2251G>A rs532513960 0.00046
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780 0.00045
NM_000046.3(ARSB):c.-590A>T rs138175832 0.00040
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980 0.00039
NM_000046.5(ARSB):c.*1610G>A rs867100156 0.00029
NM_000046.5(ARSB):c.*166G>A rs181321349 0.00029
NM_000046.5(ARSB):c.*212A>G rs561718720 0.00028
NM_000046.5(ARSB):c.*2559G>A rs975658724 0.00028
NM_000046.5(ARSB):c.*1951A>G rs149854678 0.00027
NM_000046.5(ARSB):c.*933C>T rs924998163 0.00019
NM_000046.5(ARSB):c.*1594C>A rs188998831 0.00018
NM_000046.5(ARSB):c.*1729del rs369595123 0.00018
NM_000046.5(ARSB):c.-15C>T rs779990830 0.00016
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.*2571A>G rs963944156 0.00013
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_000046.3(ARSB):c.-848C>T rs571164401 0.00012
NM_000046.4(ARSB):c.-187G>A rs529476939 0.00011
NM_000046.5(ARSB):c.*1373A>G rs146584784 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.*2672A>G rs886060780 0.00009
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.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000046.5(ARSB):c.*1513C>T rs886060786 0.00006
NM_000046.5(ARSB):c.*2287C>T rs886060782 0.00006
NM_000046.5(ARSB):c.*2684G>A rs188859845 0.00006
NM_000046.5(ARSB):c.*635C>G rs534480571 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.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys) rs202134230 0.00005
NM_000046.5(ARSB):c.*384T>A rs970465323 0.00004
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.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile) rs138643812 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.704A>G (p.Tyr235Cys) rs745804096 0.00004
NM_000046.5(ARSB):c.975C>T (p.Gly325=) rs75766476 0.00004
NM_000046.5(ARSB):c.*1326G>T rs974942925 0.00003
NM_000046.5(ARSB):c.-19G>A rs575001282 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.401A>G (p.Lys134Arg) rs371631385 0.00003
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala) rs778159305 0.00003
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271 0.00003
NM_000046.5(ARSB):c.*2164T>A rs950647700 0.00002
NM_000046.5(ARSB):c.*2526T>A rs1174387311 0.00002
NM_000046.5(ARSB):c.*3163T>C rs886060778 0.00002
NM_000046.5(ARSB):c.*618C>T rs757857543 0.00002
NM_000046.5(ARSB):c.*990C>T rs886060793 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.1231G>A (p.Ala411Thr) rs886060797 0.00002
NM_000046.5(ARSB):c.1387C>A (p.Pro463Thr) rs748137130 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_000046.3(ARSB):c.-1058A>G rs886060802 0.00001
NM_000046.4(ARSB):c.-301G>A rs886060799 0.00001
NM_000046.4(ARSB):c.-507T>C rs886060800 0.00001
NM_000046.5(ARSB):c.*1169T>C rs886060791 0.00001
NM_000046.5(ARSB):c.*2680C>T rs1043901041 0.00001
NM_000046.5(ARSB):c.*2784C>A rs1390008938 0.00001
NM_000046.5(ARSB):c.*2831T>A rs1225906488 0.00001
NM_000046.5(ARSB):c.*3152A>G rs886060779 0.00001
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln) rs148067062 0.00001
NM_000046.5(ARSB):c.1195T>C (p.Phe399Leu) rs762979755 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.124A>G (p.Ser42Gly) rs1250729156 0.00001
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser) rs1465993279 0.00001
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly) rs745885140 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.1453C>G (p.His485Asp) rs751829762 0.00001
NM_000046.5(ARSB):c.1468G>A (p.Glu490Lys) rs1226339111 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.236G>A (p.Gly79Glu) rs1271212818 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.293T>C (p.Leu98Pro) rs1554032090 0.00001
NM_000046.5(ARSB):c.312G>C (p.Gln104His) rs1478202079 0.00001
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg) rs1554087999 0.00001
NM_000046.5(ARSB):c.539G>A (p.Arg180His) rs139788949 0.00001
NM_000046.5(ARSB):c.572G>A (p.Arg191Gln) rs760875018 0.00001
NM_000046.5(ARSB):c.617A>G (p.Tyr206Cys) rs775204710 0.00001
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121 0.00001
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln) rs576541936 0.00001
NM_000046.5(ARSB):c.784A>G (p.Asn262Asp) rs1561524845 0.00001
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu) rs1280123243 0.00001
NC_000005.9:g.(?_78135159)_(78281071_?)dup
NM_000046.3(ARSB):c.-1015A>G rs886060801
NM_000046.3(ARSB):c.-855dup rs574333268
NM_000046.4(ARSB):c.-112G>C rs886060798
NM_000046.4(ARSB):c.-276T>C rs534158632
NM_000046.5(ARSB):c.*1147G>A rs886060792
NM_000046.5(ARSB):c.*1276C>G rs886060790
NM_000046.5(ARSB):c.*1286C>T rs886060789
NM_000046.5(ARSB):c.*1360T>A rs886060788
NM_000046.5(ARSB):c.*1372dup rs551749278
NM_000046.5(ARSB):c.*1387C>T rs555581069
NM_000046.5(ARSB):c.*1499C>G rs886060787
NM_000046.5(ARSB):c.*1539dup rs886060785
NM_000046.5(ARSB):c.*1899dup rs886060784
NM_000046.5(ARSB):c.*1989C>T rs878926507
NM_000046.5(ARSB):c.*2080G>A rs886060783
NM_000046.5(ARSB):c.*2092A>T rs1748827572
NM_000046.5(ARSB):c.*2155C>T rs1748825888
NM_000046.5(ARSB):c.*2158C>T rs1463642631
NM_000046.5(ARSB):c.*2524A>T rs868066675
NM_000046.5(ARSB):c.*2525A>T rs867923783
NM_000046.5(ARSB):c.*2543_*2545dup rs397976147
NM_000046.5(ARSB):c.*2578A>T rs548093605
NM_000046.5(ARSB):c.*2593T>G rs1748811214
NM_000046.5(ARSB):c.*2637_*2639dup rs886060781
NM_000046.5(ARSB):c.*3147G>A rs1425606069
NM_000046.5(ARSB):c.*3174T>G rs886060777
NM_000046.5(ARSB):c.*3181T>A rs11750774
NM_000046.5(ARSB):c.*340A>C rs1234619423
NM_000046.5(ARSB):c.*420A>G rs1748876744
NM_000046.5(ARSB):c.*608G>A rs886060796
NM_000046.5(ARSB):c.*619G>T rs886060795
NM_000046.5(ARSB):c.*793T>A rs886060794
NM_000046.5(ARSB):c.*922C>T rs201284766
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile) rs1554079311
NM_000046.5(ARSB):c.1024G>A (p.Val342Met)
NM_000046.5(ARSB):c.1028A>T (p.Lys343Met) rs1554079305
NM_000046.5(ARSB):c.1032C>G (p.Asn344Lys) rs1554079304
NM_000046.5(ARSB):c.1033C>T (p.Arg345Trp)
NM_000046.5(ARSB):c.1046A>T (p.His349Leu)
NM_000046.5(ARSB):c.1057T>A (p.Trp353Arg) rs1554079297
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr) rs1457848169
NM_000046.5(ARSB):c.1115A>G (p.Asp372Gly) rs1554079277
NM_000046.5(ARSB):c.1143-22011C>A
NM_000046.5(ARSB):c.1163G>C (p.Arg388Thr) rs1554074134
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.11G>T (p.Arg4Leu)
NM_000046.5(ARSB):c.1208C>T (p.Ser403Leu)
NM_000046.5(ARSB):c.1211C>T (p.Pro404Leu)
NM_000046.5(ARSB):c.1213+5G>A rs1554074119
NM_000046.5(ARSB):c.1214-15A>T rs1353542088
NM_000046.5(ARSB):c.1247A>T (p.Asp416Val)
NM_000046.5(ARSB):c.1250C>T (p.Ser417Phe)
NM_000046.5(ARSB):c.1288C>A (p.His430Asn) rs1554069785
NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp) rs1748937951
NM_000046.5(ARSB):c.1301G>T (p.Arg434Ile) rs1252936336
NM_000046.5(ARSB):c.1315A>G (p.Lys439Glu) rs1554069778
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu) rs1554069775
NM_000046.5(ARSB):c.1336+4G>T
NM_000046.5(ARSB):c.1336G>A (p.Gly446Ser) rs1554069772
NM_000046.5(ARSB):c.1336G>C (p.Gly446Arg) rs1554069772
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1342G>A (p.Gly448Ser)
NM_000046.5(ARSB):c.1349G>T (p.Trp450Leu) rs1554069685
NM_000046.5(ARSB):c.136C>T (p.His46Tyr)
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu) rs906245021
NM_000046.5(ARSB):c.1457A>T (p.Asp486Val) rs1554069670
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys) rs1748894464
NM_000046.5(ARSB):c.1491G>C (p.Lys497Asn)
NM_000046.5(ARSB):c.1499C>T (p.Ser500Phe)
NM_000046.5(ARSB):c.1515C>T (p.Tyr505=) rs1554069663
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.1554C>A (p.Asp518Glu) rs1233108073
NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys)
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr) rs1554069661
NM_000046.5(ARSB):c.1582_1596del (p.Val528_Trp532del) rs1554069658
NM_000046.5(ARSB):c.1592C>G (p.Pro531Arg) rs1554069659
NM_000046.5(ARSB):c.1600T>C (p.Ter534Gln) rs1554069657
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.167G>A (p.Gly56Asp) rs1554032211
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys) rs1554032205
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn) rs1236509896
NM_000046.5(ARSB):c.194C>T (p.Ser65Phe) rs1233331806
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.241C>T (p.Leu81Phe)
NM_000046.5(ARSB):c.260C>G (p.Thr87Arg) rs1413561387
NM_000046.5(ARSB):c.264G>C (p.Gln88His) rs750947605
NM_000046.5(ARSB):c.271T>C (p.Cys91Arg) rs1554032113
NM_000046.5(ARSB):c.271T>G (p.Cys91Gly)
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.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.291G>C (p.Gln97His)
NM_000046.5(ARSB):c.302G>A (p.Gly101Asp) rs2112580877
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.332A>C (p.His111Pro) rs1554088096
NM_000046.5(ARSB):c.347C>A (p.Pro116His) rs775780931
NM_000046.5(ARSB):c.34G>C (p.Gly12Arg)
NM_000046.5(ARSB):c.356_358del (p.Pro119_Ser120delinsArg) rs1554088087
NM_000046.5(ARSB):c.361T>C (p.Cys121Arg) rs1554088083
NM_000046.5(ARSB):c.384_386del (p.Leu129del) rs1180227844
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu) rs1435155976
NM_000046.5(ARSB):c.410G>A (p.Gly137Asp)
NM_000046.5(ARSB):c.410G>T (p.Gly137Val) rs118203938
NM_000046.5(ARSB):c.413A>G (p.Tyr138Cys) rs1554088061
NM_000046.5(ARSB):c.418A>C (p.Thr140Pro) rs1554088058
NM_000046.5(ARSB):c.426G>C (p.Met142Ile) rs1554088053
NM_000046.5(ARSB):c.436T>C (p.Trp146Arg) rs1554088037
NM_000046.5(ARSB):c.437G>C (p.Trp146Ser) rs1554088034
NM_000046.5(ARSB):c.437G>T (p.Trp146Leu) rs1554088034
NM_000046.5(ARSB):c.440A>C (p.His147Pro) rs1554088030
NM_000046.5(ARSB):c.448A>G (p.Met150Val)
NM_000046.5(ARSB):c.44C>T (p.Pro15Leu)
NM_000046.5(ARSB):c.464G>A (p.Cys155Tyr) rs1554088019
NM_000046.5(ARSB):c.46C>G (p.Arg16Gly)
NM_000046.5(ARSB):c.489_491del (p.Thr164del) rs1214445569
NM_000046.5(ARSB):c.499+5T>C
NM_000046.5(ARSB):c.499+6G>A
NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)
NM_000046.5(ARSB):c.523T>C (p.Tyr175His)
NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp) rs748739839
NM_000046.5(ARSB):c.532_533inv (p.His178Cys)
NM_000046.5(ARSB):c.538C>T (p.Arg180Cys)
NM_000046.5(ARSB):c.556G>A (p.Ala186Thr)
NM_000046.5(ARSB):c.593A>G (p.Asp198Gly) rs1406969234
NM_000046.5(ARSB):c.5G>A (p.Gly2Asp)
NM_000046.5(ARSB):c.625A>T (p.Met209Leu)
NM_000046.5(ARSB):c.635C>T (p.Thr212Ile) rs1554087409
NM_000046.5(ARSB):c.666C>T (p.Leu222=) rs1752122294
NM_000046.5(ARSB):c.680C>A (p.Pro227Gln)
NM_000046.5(ARSB):c.683C>T (p.Pro228Leu)
NM_000046.5(ARSB):c.689A>G (p.Lys230Arg)
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.713T>A (p.Leu238His)
NM_000046.5(ARSB):c.716A>G (p.Gln239Arg) rs1554086431
NM_000046.5(ARSB):c.719C>T (p.Ser240Phe) rs1554086430
NM_000046.5(ARSB):c.725A>C (p.His242Pro) rs1554086428
NM_000046.5(ARSB):c.729_730delinsTT (p.Glu243_Pro244delinsAspSer) rs2112484265
NM_000046.5(ARSB):c.755T>G (p.Leu252Trp)
NM_000046.5(ARSB):c.76CTG[6] (p.Leu32_Ala33insLeu)
NM_000046.5(ARSB):c.76CTG[7] (p.Leu32_Ala33insLeuLeu)
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.7C>T (p.Pro3Ser) rs887343928
NM_000046.5(ARSB):c.803G>T (p.Gly268Val) rs1554086400
NM_000046.5(ARSB):c.806T>C (p.Met269Thr)
NM_000046.5(ARSB):c.838G>A (p.Val280Ile)
NM_000046.5(ARSB):c.847G>C (p.Ala283Pro)
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.891T>G (p.Phe297Leu)
NM_000046.5(ARSB):c.896C>T (p.Thr299Ile) rs2112483313
NM_000046.5(ARSB):c.900T>G (p.Asp300Glu) rs1280123243
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
NM_000046.5(ARSB):c.917T>C (p.Leu306Ser)
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.922G>A (p.Gly308Arg) rs1554079335
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
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.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000046.5(ARSB):c.951A>G (p.Arg317=) rs1318270777
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.976G>A (p.Val326Ile)
NM_000046.5(ARSB):c.980G>A (p.Arg327Gln)

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