ClinVar Miner

List of variants reported as uncertain significance for GM2 gangliosidosis

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 621
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000405.5(GM2A):c.*724G>C rs112641014 0.19839
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000520.6(HEXA):c.*575G>A rs76075374 0.01411
NM_000405.5(GM2A):c.*356C>A rs189626755 0.00491
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000405.5(GM2A):c.*2519G>A rs138240164 0.00292
NM_000520.6(HEXA):c.*76G>A rs558918292 0.00277
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538 0.00107
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_000405.5(GM2A):c.*410C>T rs181890739 0.00090
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_000520.5(HEXA):c.-136G>A rs561320483 0.00054
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000405.5(GM2A):c.*704T>A rs569818818 0.00049
NM_000520.6(HEXA):c.*436C>T rs112626309 0.00042
NM_000405.5(GM2A):c.*286C>T rs766120281 0.00039
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_000405.5(GM2A):c.*426C>T rs370699960 0.00032
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000405.5(GM2A):c.*1241T>C rs541818620 0.00030
NM_000520.6(HEXA):c.*355C>G rs188399769 0.00029
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_000405.5(GM2A):c.244G>C (p.Val82Leu) rs139014924 0.00023
NM_000405.5(GM2A):c.506G>A (p.Arg169His) rs104893892 0.00023
NM_000405.5(GM2A):c.575G>T (p.Gly192Val) rs751291017 0.00023
NM_000405.5(GM2A):c.*860C>T rs368971605 0.00022
NM_000405.5(GM2A):c.*241C>T rs377505668 0.00021
NM_000405.5(GM2A):c.254T>G (p.Val85Gly) rs143999954 0.00021
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084 0.00018
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583 0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys) rs143635580 0.00016
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) rs576145664 0.00016
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788 0.00015
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293 0.00012
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208 0.00012
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346 0.00011
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798 0.00011
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516 0.00010
NM_000405.5(GM2A):c.*1899G>C rs886060274 0.00009
NM_000520.5(HEXA):c.-141G>A rs886051462 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272 0.00009
NM_000521.3(HEXB):c.-52C>A rs886060748 0.00009
NM_000405.5(GM2A):c.517G>A (p.Val173Ile) rs532003642 0.00008
NM_000520.6(HEXA):c.855C>T (p.Gly285=) rs768518776 0.00008
NM_000405.5(GM2A):c.*984A>G rs866309305 0.00007
NM_000405.5(GM2A):c.563C>G (p.Ala188Gly) rs761692942 0.00007
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315 0.00007
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met) rs552505619 0.00007
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met) rs760153692 0.00007
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219 0.00007
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) rs762494949 0.00006
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) rs868358306 0.00006
NM_000520.6(HEXA):c.764C>G (p.Ala255Gly) rs370576428 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000520.6(HEXA):c.1421+4A>G rs953579005 0.00005
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961 0.00005
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) rs770560389 0.00005
NM_000405.5(GM2A):c.*1246A>G rs760209124 0.00004
NM_000405.5(GM2A):c.*1673A>G rs920253935 0.00004
NM_000405.5(GM2A):c.*2363C>T rs566427956 0.00004
NM_000405.5(GM2A):c.*394G>A rs574467377 0.00004
NM_000405.5(GM2A):c.*91C>A rs774301017 0.00004
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407 0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
NM_000520.6(HEXA):c.706G>A (p.Ala236Thr) rs757119445 0.00004
NM_000521.4(HEXB):c.1243-6T>C rs759404927 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000405.5(GM2A):c.*1410A>C rs181014044 0.00003
NM_000405.5(GM2A):c.*2479C>T rs886060276 0.00003
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys) rs761084552 0.00003
NM_000520.5(HEXA):c.-181T>C rs886051463 0.00003
NM_000520.6(HEXA):c.1073+4A>G rs780502991 0.00003
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys) rs1227959449 0.00003
NM_000521.3(HEXB):c.-62G>A rs1045177384 0.00003
NM_000521.4(HEXB):c.-14G>A rs886060749 0.00003
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049 0.00003
NM_015046.7(SETX):c.2399G>T (p.Arg800Met) rs761725498 0.00003
NM_000405.5(GM2A):c.*1708A>G rs1469616524 0.00002
NM_000405.5(GM2A):c.*1927C>G rs1413471325 0.00002
NM_000405.5(GM2A):c.*274A>G rs886060270 0.00002
NM_000405.5(GM2A):c.496G>A (p.Gly166Arg) rs764022955 0.00002
NM_000520.6(HEXA):c.1256C>G (p.Pro419Arg) rs772431056 0.00002
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) rs202173526 0.00002
NM_000520.6(HEXA):c.1421G>T (p.Trp474Leu) rs762374961 0.00002
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641 0.00002
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442 0.00002
NM_000520.6(HEXA):c.616G>A (p.Val206Ile) rs543071358 0.00002
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457 0.00002
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435 0.00002
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu) rs754108567 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) rs762209256 0.00002
NM_000405.5(GM2A):c.*1068A>G rs576574973 0.00001
NM_000405.5(GM2A):c.*1362G>C rs886060273 0.00001
NM_000405.5(GM2A):c.*188A>T rs886060269 0.00001
NM_000405.5(GM2A):c.*2113G>A rs886060275 0.00001
NM_000405.5(GM2A):c.*2619C>T rs772153529 0.00001
NM_000405.5(GM2A):c.*2695G>A rs770518416 0.00001
NM_000405.5(GM2A):c.*868T>C rs886060272 0.00001
NM_000405.5(GM2A):c.139G>A (p.Val47Met) rs1269101684 0.00001
NM_000405.5(GM2A):c.13A>T (p.Met5Leu) rs557461469 0.00001
NM_000520.5(HEXA):c.-207A>G rs886051464 0.00001
NM_000520.6(HEXA):c.*12C>T rs532797279 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.1091C>T (p.Ser364Phe) rs781611898 0.00001
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781 0.00001
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg) rs764291005 0.00001
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val) rs774562271 0.00001
NM_000520.6(HEXA):c.1271G>A (p.Arg424His) rs535095877 0.00001
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) rs749368995 0.00001
NM_000520.6(HEXA):c.1309G>A (p.Val437Met) rs2088616485 0.00001
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) rs752223090 0.00001
NM_000520.6(HEXA):c.132T>G (p.Phe44Leu) rs1304040097 0.00001
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645 0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871 0.00001
NM_000520.6(HEXA):c.1375A>G (p.Met459Val) rs547192168 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.140A>G (p.Gln47Arg) rs1015834087 0.00001
NM_000520.6(HEXA):c.1438G>A (p.Val480Ile) rs370638338 0.00001
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu) rs1185080097 0.00001
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln) rs745432499 0.00001
NM_000520.6(HEXA):c.167C>T (p.Pro56Leu) rs955535343 0.00001
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg) rs753442808 0.00001
NM_000520.6(HEXA):c.241C>A (p.Pro81Thr) rs144231599 0.00001
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln) rs766966378 0.00001
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) rs756740656 0.00001
NM_000520.6(HEXA):c.275A>G (p.Lys92Arg) rs1208872523 0.00001
NM_000520.6(HEXA):c.325A>T (p.Thr109Ser) rs1269110075 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys) rs774220090 0.00001
NM_000520.6(HEXA):c.346+2dup rs1430416918 0.00001
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe) rs1282031681 0.00001
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly) rs1365750130 0.00001
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln) rs917904407 0.00001
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln) rs769724246 0.00001
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile) rs1273494297 0.00001
NM_000520.6(HEXA):c.503C>T (p.Pro168Leu) rs1459050143 0.00001
NM_000520.6(HEXA):c.535C>T (p.His179Tyr) rs781493030 0.00001
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp) rs1166889033 0.00001
NM_000520.6(HEXA):c.574G>A (p.Val192Ile) rs387906310 0.00001
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser) rs753862880 0.00001
NM_000520.6(HEXA):c.598G>A (p.Val200Met) rs1800429 0.00001
NM_000520.6(HEXA):c.664A>C (p.Met222Leu) rs768751360 0.00001
NM_000520.6(HEXA):c.740G>A (p.Arg247Gln) rs1360213217 0.00001
NM_000520.6(HEXA):c.749G>T (p.Gly250Val) rs121907959 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.7A>G (p.Ser3Gly) rs1277583383 0.00001
NM_000520.6(HEXA):c.884A>G (p.Asn295Ser) rs199578185 0.00001
NM_000520.6(HEXA):c.901A>C (p.Met301Leu) rs758871181 0.00001
NM_000520.6(HEXA):c.961G>A (p.Gly321Arg) rs556877212 0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=) rs28942072 0.00001
NM_000521.4(HEXB):c.*105T>C rs777009900 0.00001
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val) rs373731814 0.00001
NM_000521.4(HEXB):c.1332C>G (p.Ile444Met) rs762367349 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr) rs773007352 0.00001
NM_000521.4(HEXB):c.14G>A (p.Gly5Glu) rs1400667054 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys) rs749646826 0.00001
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val) rs767663018 0.00001
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser) rs763927371 0.00001
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg) rs1193552297 0.00001
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) rs768218036 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln) rs759538325 0.00001
NM_000521.4(HEXB):c.512-3C>A rs1376742145 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.584T>C (p.Ile195Thr) rs765229504 0.00001
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu) rs865822685 0.00001
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe) rs867255937 0.00001
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) rs751678693 0.00001
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala) rs1255790136 0.00001
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter) rs1407085233 0.00001
NC_000005.9:g.(?_150632778)_(150646494_?)dup
NC_000005.9:g.(?_150632778)_(150727021_?)dup
NC_000005.9:g.(?_73980960)_(75008762_?)dup
NC_000015.9:g.(?_72636418)_(73660611_?)dup
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NC_000015.9:g.(?_72666113)_(72666961_?)del
NM_000405.4(GM2A):c.-104T>C rs1753617546
NM_000405.4(GM2A):c.-83C>G rs1753618021
NM_000405.5(GM2A):c.*133C>T rs1753917282
NM_000405.5(GM2A):c.*2009A>G rs1753965351
NM_000405.5(GM2A):c.*2206C>T rs1753968753
NM_000405.5(GM2A):c.*2452A>C rs1037658502
NM_000405.5(GM2A):c.*245G>A rs542291291
NM_000405.5(GM2A):c.*2529G>A rs747946670
NM_000405.5(GM2A):c.*2550C>T rs886060277
NM_000405.5(GM2A):c.*257C>G rs536229935
NM_000405.5(GM2A):c.*2624C>T rs886060278
NM_000405.5(GM2A):c.*352C>G rs564679676
NM_000405.5(GM2A):c.*568G>A rs886060271
NM_000405.5(GM2A):c.*722_*723dup rs35982513
NM_000405.5(GM2A):c.*862C>G rs781320720
NM_000405.5(GM2A):c.*903C>T rs1753937645
NM_000405.5(GM2A):c.-7C>G rs371628812
NM_000405.5(GM2A):c.11T>A (p.Leu4Gln) rs762676667
NM_000405.5(GM2A):c.137C>A (p.Ala46Glu)
NM_000405.5(GM2A):c.13A>C (p.Met5Leu)
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000405.5(GM2A):c.172A>T (p.Ile58Phe)
NM_000405.5(GM2A):c.178G>A (p.Val60Ile) rs201829650
NM_000405.5(GM2A):c.178G>C (p.Val60Leu) rs201829650
NM_000405.5(GM2A):c.182C>G (p.Pro61Arg)
NM_000405.5(GM2A):c.184G>A (p.Gly62Arg)
NM_000405.5(GM2A):c.203T>C (p.Val68Ala)
NM_000405.5(GM2A):c.205_206delinsGC (p.Met69Ala)
NM_000405.5(GM2A):c.207G>A (p.Met69Ile) rs2114032524
NM_000405.5(GM2A):c.207G>C (p.Met69Ile)
NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe) rs1753894633
NM_000405.5(GM2A):c.278_279delinsGT (p.Leu93Arg) rs2127240636
NM_000405.5(GM2A):c.308T>C (p.Ile103Thr) rs1443880021
NM_000405.5(GM2A):c.379G>A (p.Glu127Lys) rs1561620130
NM_000405.5(GM2A):c.37C>T (p.Leu13=) rs1753622145
NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)
NM_000405.5(GM2A):c.427-13G>A rs1753905990
NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)
NM_000405.5(GM2A):c.445A>C (p.Lys149Gln)
NM_000405.5(GM2A):c.449G>A (p.Ser150Asn)
NM_000405.5(GM2A):c.467A>T (p.Asp156Val)
NM_000405.5(GM2A):c.505C>A (p.Arg169Ser)
NM_000405.5(GM2A):c.505C>T (p.Arg169Cys)
NM_000405.5(GM2A):c.511G>C (p.Glu171Gln)
NM_000405.5(GM2A):c.512A>T (p.Glu171Val)
NM_000405.5(GM2A):c.524G>A (p.Ser175Asn)
NM_000405.5(GM2A):c.538C>A (p.Arg180Ser) rs771081390
NM_000405.5(GM2A):c.538C>T (p.Arg180Cys)
NM_000405.5(GM2A):c.539G>A (p.Arg180His) rs368576623
NM_000405.5(GM2A):c.539G>C (p.Arg180Pro)
NM_000405.5(GM2A):c.559G>A (p.Ala187Thr)
NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)
NM_000405.5(GM2A):c.579A>G (p.Ile193Met)
NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)
NM_000405.5(GM2A):c.81+4A>G
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro) rs1582070376
NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)
NM_000520.6(HEXA):c.*200T>C rs886051461
NM_000520.6(HEXA):c.-1dup (p.Met1fs) rs1555475553
NM_000520.6(HEXA):c.-7_1del (p.Met1fs) rs759154405
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe) rs1555472604
NM_000520.6(HEXA):c.1008G>C (p.Gln336His) rs1555472602
NM_000520.6(HEXA):c.1009G>A (p.Asp337Asn)
NM_000520.6(HEXA):c.100G>A (p.Asp34Asn)
NM_000520.6(HEXA):c.1019G>A (p.Arg340Lys)
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly) rs1555475512
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg) rs1417593132
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val) rs191330716
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr) rs745555933
NM_000520.6(HEXA):c.1042T>G (p.Phe348Val)
NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)
NM_000520.6(HEXA):c.1058C>T (p.Ser353Phe) rs2140322145
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys) rs2089059184
NM_000520.6(HEXA):c.1073+10G>T
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1074G>C (p.Thr358=) rs1330754060
NM_000520.6(HEXA):c.107G>C (p.Arg36Pro)
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1087G>T (p.Val363Phe)
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr) rs2088636561
NM_000520.6(HEXA):c.1088T>A (p.Val363Asp)
NM_000520.6(HEXA):c.1091C>G (p.Ser364Cys)
NM_000520.6(HEXA):c.1091CTT[1] (p.Ser365del)
NM_000520.6(HEXA):c.1099G>A (p.Gly367Ser) rs2140321869
NM_000520.6(HEXA):c.10_12dup (p.Ser4_Arg5insSer)
NM_000520.6(HEXA):c.1108T>A (p.Tyr370Asn)
NM_000520.6(HEXA):c.1109A>G (p.Tyr370Cys)
NM_000520.6(HEXA):c.110A>G (p.Tyr37Cys) rs2140344677
NM_000520.6(HEXA):c.1114G>A (p.Val372Met) rs759434633
NM_000520.6(HEXA):c.1114G>T (p.Val372Leu)
NM_000520.6(HEXA):c.1121A>G (p.Gln374Arg)
NM_000520.6(HEXA):c.1135A>G (p.Asn379Asp)
NM_000520.6(HEXA):c.1136A>G (p.Asn379Ser)
NM_000520.6(HEXA):c.1142T>A (p.Val381Glu)
NM_000520.6(HEXA):c.1145A>C (p.Lys382Thr) rs960869164
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1147-3C>T
NM_000520.6(HEXA):c.1152G>C (p.Gln384His)
NM_000520.6(HEXA):c.1154C>T (p.Pro385Leu)
NM_000520.6(HEXA):c.1160C>T (p.Thr387Ile)
NM_000520.6(HEXA):c.1165A>G (p.Ile389Val)
NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)
NM_000520.6(HEXA):c.1168C>G (p.Gln390Glu) rs988192535
NM_000520.6(HEXA):c.1189C>A (p.Pro397Thr)
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser)
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile) rs755973971
NM_000520.6(HEXA):c.1198T>C (p.Tyr400His)
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1209G>T (p.Glu403Asp)
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1]) rs1555472429
NM_000520.6(HEXA):c.121C>T (p.Pro41Ser)
NM_000520.6(HEXA):c.1226A>G (p.Lys409Arg)
NM_000520.6(HEXA):c.1238G>A (p.Arg413Gln)
NM_000520.6(HEXA):c.1238G>C (p.Arg413Pro) rs766988109
NM_000520.6(HEXA):c.1250C>G (p.Ser417Cys)
NM_000520.6(HEXA):c.1252G>T (p.Ala418Ser)
NM_000520.6(HEXA):c.1253C>A (p.Ala418Asp)
NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly)
NM_000520.6(HEXA):c.1270C>T (p.Arg424Cys)
NM_000520.6(HEXA):c.1273A>G (p.Ile425Val) rs2088617363
NM_000520.6(HEXA):c.1276T>G (p.Ser426Ala)
NM_000520.6(HEXA):c.1277C>T (p.Ser426Phe) rs2140320645
NM_000520.6(HEXA):c.127A>G (p.Asn43Asp) rs1567308297
NM_000520.6(HEXA):c.1283G>A (p.Gly428Asp) rs2140320638
NM_000520.6(HEXA):c.1285C>T (p.Pro429Ser) rs2140320635
NM_000520.6(HEXA):c.1288G>A (p.Asp430Asn)
NM_000520.6(HEXA):c.1306A>T (p.Ile436Leu) rs1800431
NM_000520.6(HEXA):c.1315C>A (p.Pro439Thr) rs2140320594
NM_000520.6(HEXA):c.1321G>A (p.Ala441Thr) rs2140320582
NM_000520.6(HEXA):c.1322C>G (p.Ala441Gly) rs2140320579
NM_000520.6(HEXA):c.1329A>C (p.Glu443Asp)
NM_000520.6(HEXA):c.1330+4A>T
NM_000520.6(HEXA):c.1331G>A (p.Gly444Asp)
NM_000520.6(HEXA):c.1333A>G (p.Thr445Ala)
NM_000520.6(HEXA):c.1336C>T (p.Pro446Ser)
NM_000520.6(HEXA):c.1337C>T (p.Pro446Leu)
NM_000520.6(HEXA):c.1339G>A (p.Glu447Lys)
NM_000520.6(HEXA):c.1346A>G (p.Lys449Arg)
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1367A>C (p.Glu456Ala) rs1567295650
NM_000520.6(HEXA):c.1367A>G (p.Glu456Gly)
NM_000520.6(HEXA):c.1368G>C (p.Glu456Asp) rs2140320322
NM_000520.6(HEXA):c.136T>C (p.Phe46Leu) rs1287127671
NM_000520.6(HEXA):c.1377G>A (p.Met459Ile)
NM_000520.6(HEXA):c.1399A>G (p.Thr467Ala)
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile) rs746828145
NM_000520.6(HEXA):c.1412C>G (p.Pro471Arg)
NM_000520.6(HEXA):c.141G>C (p.Gln47His)
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+3A>T
NM_000520.6(HEXA):c.1421+6G>C
NM_000520.6(HEXA):c.1421+7del rs747378954
NM_000520.6(HEXA):c.1424C>G (p.Pro475Arg) rs758829206
NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)
NM_000520.6(HEXA):c.1439T>C (p.Val480Ala)
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1457G>A (p.Ser486Asn) rs1408716264
NM_000520.6(HEXA):c.1467G>C (p.Leu489Phe)
NM_000520.6(HEXA):c.1469C>T (p.Thr490Ile)
NM_000520.6(HEXA):c.1474G>C (p.Asp492His)
NM_000520.6(HEXA):c.1481C>G (p.Thr494Arg) rs2088600017
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)
NM_000520.6(HEXA):c.1488C>G (p.Ala496=)
NM_000520.6(HEXA):c.148G>A (p.Val50Ile)
NM_000520.6(HEXA):c.1509C>G (p.Phe503Leu)
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.152G>C (p.Ser51Thr) rs2089058076
NM_000520.6(HEXA):c.1532G>T (p.Gly511Val)
NM_000520.6(HEXA):c.1556T>A (p.Val519Glu) rs2088580697
NM_000520.6(HEXA):c.1556T>C (p.Val519Ala)
NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro) rs1432462387
NM_000520.6(HEXA):c.1571del (p.Gln524fs) rs1555472158
NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly)
NM_000520.6(HEXA):c.1578del (p.Phe526fs) rs1555472157
NM_000520.6(HEXA):c.157G>A (p.Ala53Thr)
NM_000520.6(HEXA):c.157G>T (p.Ala53Ser) rs2140344593
NM_000520.6(HEXA):c.167C>G (p.Pro56Arg)
NM_000520.6(HEXA):c.169G>C (p.Gly57Arg) rs2089057551
NM_000520.6(HEXA):c.16C>A (p.Leu6Ile) rs1167125379
NM_000520.6(HEXA):c.176C>T (p.Ser59Leu)
NM_000520.6(HEXA):c.178G>T (p.Val60Phe)
NM_000520.6(HEXA):c.179T>C (p.Val60Ala)
NM_000520.6(HEXA):c.17T>G (p.Leu6Arg)
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe) rs1595816175
NM_000520.6(HEXA):c.190G>A (p.Ala64Thr)
NM_000520.6(HEXA):c.200G>A (p.Arg67His)
NM_000520.6(HEXA):c.200G>T (p.Arg67Leu) rs1213459678
NM_000520.6(HEXA):c.203A>G (p.Tyr68Cys)
NM_000520.6(HEXA):c.211C>G (p.Leu71Val) rs775000497
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala) rs2089055615
NM_000520.6(HEXA):c.229T>G (p.Ser77Ala)
NM_000520.6(HEXA):c.230C>T (p.Ser77Phe) rs2089055459
NM_000520.6(HEXA):c.236C>G (p.Pro79Arg)
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser) rs1240272655
NM_000520.6(HEXA):c.248T>C (p.Leu83Pro) rs1477850542
NM_000520.6(HEXA):c.253+4A>C rs746118260
NM_000520.6(HEXA):c.253+5G>A
NM_000520.6(HEXA):c.253+5G>T
NM_000520.6(HEXA):c.254G>A (p.Gly85Glu)
NM_000520.6(HEXA):c.260G>T (p.Arg87Leu)
NM_000520.6(HEXA):c.277A>G (p.Asn93Asp) rs2140329070
NM_000520.6(HEXA):c.285G>C (p.Leu95Phe)
NM_000520.6(HEXA):c.293C>G (p.Ser98Cys)
NM_000520.6(HEXA):c.298G>T (p.Val100Phe) rs794727250
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) rs1217876329
NM_000520.6(HEXA):c.307G>A (p.Gly103Arg)
NM_000520.6(HEXA):c.308G>A (p.Gly103Glu)
NM_000520.6(HEXA):c.331G>A (p.Glu111Lys) rs2140328962
NM_000520.6(HEXA):c.332A>G (p.Glu111Gly) rs2140328958
NM_000520.6(HEXA):c.346+5G>A rs1414011185
NM_000520.6(HEXA):c.34C>G (p.Leu12Val)
NM_000520.6(HEXA):c.350C>A (p.Thr117Asn)
NM_000520.6(HEXA):c.358A>G (p.Ile120Val) rs1567300305
NM_000520.6(HEXA):c.364G>C (p.Asp122His)
NM_000520.6(HEXA):c.367G>A (p.Asp123Asn)
NM_000520.6(HEXA):c.367G>T (p.Asp123Tyr) rs768750119
NM_000520.6(HEXA):c.37G>A (p.Ala13Thr)
NM_000520.6(HEXA):c.386C>G (p.Ser129Cys)
NM_000520.6(HEXA):c.395T>G (p.Val132Gly)
NM_000520.6(HEXA):c.412+5C>A rs2088765141
NM_000520.6(HEXA):c.417_418delinsTC (p.Glu140Gln)
NM_000520.6(HEXA):c.442A>G (p.Lys148Glu) rs2140326779
NM_000520.6(HEXA):c.446CTG[1] (p.Ala150del) rs1555473140
NM_000520.6(HEXA):c.44C>T (p.Ala15Val)
NM_000520.6(HEXA):c.460-17A>G
NM_000520.6(HEXA):c.460-19C>T rs1680245631
NM_000520.6(HEXA):c.462C>A (p.Phe154Leu) rs1272644968
NM_000520.6(HEXA):c.469A>G (p.Asn157Asp)
NM_000520.6(HEXA):c.472A>G (p.Lys158Glu)
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys) rs2088724627
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)
NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)
NM_000520.6(HEXA):c.4A>G (p.Thr2Ala)
NM_000520.6(HEXA):c.505C>G (p.His169Asp)
NM_000520.6(HEXA):c.50C>T (p.Ala17Val)
NM_000520.6(HEXA):c.512G>A (p.Gly171Asp) rs2088723709
NM_000520.6(HEXA):c.524A>G (p.Asp175Gly)
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro) rs2088722634
NM_000520.6(HEXA):c.545C>G (p.Pro182Arg)
NM_000520.6(HEXA):c.566C>G (p.Thr189Ser)
NM_000520.6(HEXA):c.568C>T (p.Leu190=)
NM_000520.6(HEXA):c.570+10C>T
NM_000520.6(HEXA):c.570+3A>C
NM_000520.6(HEXA):c.572A>G (p.Asp191Gly) rs2140324755
NM_000520.6(HEXA):c.577A>G (p.Met193Val) rs748427632
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.598G>T (p.Val200Leu)
NM_000520.6(HEXA):c.59C>G (p.Ala20Gly)
NM_000520.6(HEXA):c.59C>T (p.Ala20Val) rs749545037
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.617T>C (p.Val206Ala) rs2140324697
NM_000520.6(HEXA):c.629C>A (p.Ser210Tyr)
NM_000520.6(HEXA):c.62C>T (p.Thr21Met)
NM_000520.6(HEXA):c.642G>C (p.Glu214Asp)
NM_000520.6(HEXA):c.658G>C (p.Glu220Gln)
NM_000520.6(HEXA):c.65C>T (p.Ala22Val)
NM_000520.6(HEXA):c.664A>G (p.Met222Val) rs768751360
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly) rs1595800426
NM_000520.6(HEXA):c.668G>A (p.Arg223Lys)
NM_000520.6(HEXA):c.672+3A>T
NM_000520.6(HEXA):c.672G>A (p.Lys224=)
NM_000520.6(HEXA):c.680A>G (p.Tyr227Cys)
NM_000520.6(HEXA):c.699C>G (p.Ile233Met) rs2140324240
NM_000520.6(HEXA):c.701A>G (p.Tyr234Cys)
NM_000520.6(HEXA):c.70T>A (p.Trp24Arg) rs2140344766
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser) rs758166013
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln) rs1297800753
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.757G>T (p.Val253Leu)
NM_000520.6(HEXA):c.764C>T (p.Ala255Val)
NM_000520.6(HEXA):c.775A>G (p.Thr259Ala) rs745997044
NM_000520.6(HEXA):c.785A>G (p.His262Arg)
NM_000520.6(HEXA):c.787A>G (p.Thr263Ala)
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.789T>C (p.Thr263=) rs2088680576
NM_000520.6(HEXA):c.80C>T (p.Pro27Leu)
NM_000520.6(HEXA):c.818T>C (p.Leu273Ser) rs2088664026
NM_000520.6(HEXA):c.823A>G (p.Thr275Ala)
NM_000520.6(HEXA):c.826C>G (p.Pro276Ala)
NM_000520.6(HEXA):c.833A>G (p.Tyr278Cys) rs772036483
NM_000520.6(HEXA):c.848C>T (p.Pro283Leu)
NM_000520.6(HEXA):c.857C>T (p.Thr286Ile)
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)
NM_000520.6(HEXA):c.889A>G (p.Thr297Ala)
NM_000520.6(HEXA):c.88T>G (p.Phe30Val) rs2140344740
NM_000520.6(HEXA):c.893A>G (p.Tyr298Cys) rs1396944040
NM_000520.6(HEXA):c.896A>C (p.Glu299Ala)
NM_000520.6(HEXA):c.8G>T (p.Ser3Ile) rs374524755
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.907A>C (p.Thr303Pro) rs759837903
NM_000520.6(HEXA):c.908C>T (p.Thr303Ile)
NM_000520.6(HEXA):c.913T>C (p.Phe305Leu)
NM_000520.6(HEXA):c.926G>A (p.Ser309Asn) rs2088661242
NM_000520.6(HEXA):c.926G>C (p.Ser309Thr)
NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)
NM_000520.6(HEXA):c.931_942del (p.Val311_Asp314del)
NM_000520.6(HEXA):c.93A>T (p.Gln31His) rs2089059614
NM_000520.6(HEXA):c.941A>T (p.Asp314Val) rs1555472696
NM_000520.6(HEXA):c.947A>G (p.Tyr316Cys)
NM_000520.6(HEXA):c.986+6A>T
NM_000520.6(HEXA):c.98C>G (p.Ser33Cys) rs1416996557
NM_000520.6(HEXA):c.994A>C (p.Asn332His)
NM_000520.6(HEXA):c.997C>G (p.Pro333Ala)
NM_000520.6(HEXA):c.99C>A (p.Ser33=) rs2140344713
NM_000521.3(HEXB):c.-63G>A rs1748827834
NM_000521.4(HEXB):c.*4dup (p.Ter557=) rs771506320
NM_000521.4(HEXB):c.1048C>G (p.His350Asp)
NM_000521.4(HEXB):c.1049A>T (p.His350Leu) rs2112175313
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe)
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) rs1749652995
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly) rs781244479
NM_000521.4(HEXB):c.1066G>A (p.Val356Met)
NM_000521.4(HEXB):c.109G>T (p.Val37Leu)
NM_000521.4(HEXB):c.1104A>C (p.Gln368His)
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile)
NM_000521.4(HEXB):c.1169+5G>C
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser)
NM_000521.4(HEXB):c.1242+3G>A
NM_000521.4(HEXB):c.1243-9C>A
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg)
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp)
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val) rs757550590
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn)
NM_000521.4(HEXB):c.1276G>C (p.Asp426His)
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser) rs797045614
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg) rs2112180879
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala) rs1392645389
NM_000521.4(HEXB):c.1382G>A (p.Arg461Lys) rs2112180932
NM_000521.4(HEXB):c.1416C>T (p.Gly472=)
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1]) rs750595127
NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala) rs760333736
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg)
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)
NM_000521.4(HEXB):c.1474T>A (p.Tyr492Asn)
NM_000521.4(HEXB):c.1489A>C (p.Asn497His)
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe)
NM_000521.4(HEXB):c.1508+6G>C
NM_000521.4(HEXB):c.150C>T (p.Ala50=) rs779421706
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1542G>C (p.Trp514Cys) rs1417317737
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile) rs760366178
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1614-25_1614-7dup rs1554037306
NM_000521.4(HEXB):c.1614-6_1628dup rs2112188881
NM_000521.4(HEXB):c.1614-8_1614-6dup rs1271274603
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del) rs1554037322
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys) rs766477016
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro) rs1749847397
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro) rs774155487
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg)
NM_000521.4(HEXB):c.230_232del (p.Phe77del) rs1554034490
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr)
NM_000521.4(HEXB):c.250A>C (p.Asn84His)
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys)
NM_000521.4(HEXB):c.272G>C (p.Cys91Ser) rs1057518709
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr)
NM_000521.4(HEXB):c.300A>C (p.Arg100=) rs1303786596
NM_000521.4(HEXB):c.302A>G (p.Tyr101Cys) rs1748942839
NM_000521.4(HEXB):c.32C>T (p.Pro11Leu)
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys)
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) rs760427424
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser) rs1748945643
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser)
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.444T>G (p.Ser148=)
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser)
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala) rs951616685
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln)
NM_000521.4(HEXB):c.512G>T (p.Gly171Val)
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys)
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro) rs1177358563
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile) rs1352027066
NM_000521.4(HEXB):c.565A>G (p.Ile189Val)
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser)
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) rs1554034424
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) rs887796660
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)
NM_000521.4(HEXB):c.646G>A (p.Val216Ile)
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_000521.4(HEXB):c.669G>A (p.Leu223=) rs773385077
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp)
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) rs1554034426
NM_000521.4(HEXB):c.710A>G (p.His237Arg)
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) rs745791892
NM_000521.4(HEXB):c.766A>C (p.Asn256His) rs2112156485
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr)
NM_000521.4(HEXB):c.771+5G>C rs727503959
NM_000521.4(HEXB):c.771+985G>A
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) rs886060750
NM_000521.4(HEXB):c.790C>T (p.His264Tyr)
NM_000521.4(HEXB):c.811G>A (p.Val271Ile)
NM_000521.4(HEXB):c.817A>G (p.Met273Val)
NM_000521.4(HEXB):c.824T>C (p.Ile275Thr)
NM_000521.4(HEXB):c.833C>T (p.Ala278Val) rs886044118
NM_000521.4(HEXB):c.844G>C (p.Gly282Arg)
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu)
NM_000521.4(HEXB):c.880C>T (p.His294Tyr) rs2112171970
NM_000521.4(HEXB):c.881A>G (p.His294Arg) rs1749605069
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del) rs1554034432
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg) rs2112172036
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala)
NM_000521.4(HEXB):c.965T>C (p.Ile322Thr) rs1749649940
NM_000521.4(HEXB):c.969C>A (p.Asn323Lys)
NM_000521.4(HEXB):c.96G>C (p.Gln32His)
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile) rs1561226697
NM_001292004.2(HEXB):c.-376-4189C>T
NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter) rs35080306
NM_032380.5(GFM2):c.2239dup (p.Thr747fs) rs1554037537

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