ClinVar Miner

List of variants reported as uncertain significance for GM2 gangliosidosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 432
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
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.254T>G (p.Val85Gly) rs143999954 0.00021
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583 0.00019
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084 0.00018
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.836C>G (p.Ser279Cys) rs148199798 0.00011
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516 0.00010
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_000405.5(GM2A):c.517G>A (p.Val173Ile) rs532003642 0.00008
NM_000405.5(GM2A):c.563C>G (p.Ala188Gly) rs761692942 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.1421+4A>G rs953579005 0.00005
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961 0.00005
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407 0.00004
NM_000520.6(HEXA):c.706G>A (p.Ala236Thr) rs757119445 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys) rs761084552 0.00003
NM_000520.6(HEXA):c.1073+4A>G rs780502991 0.00003
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049 0.00003
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_000521.4(HEXB):c.1040A>T (p.Gln347Leu) rs754108567 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.139G>A (p.Val47Met) rs1269101684 0.00001
NM_000405.5(GM2A):c.13A>T (p.Met5Leu) rs557461469 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.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.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.1375A>G (p.Met459Val) rs547192168 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.275A>G (p.Lys92Arg) rs1208872523 0.00001
NM_000520.6(HEXA):c.325A>T (p.Thr109Ser) rs1269110075 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.503C>T (p.Pro168Leu) rs1459050143 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.640G>A (p.Glu214Lys) rs1227959449 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.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.1445T>C (p.Ile482Thr) rs773007352 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 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.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.878G>C (p.Gly293Ala) rs1255790136 0.00001
NC_000005.10:g.74685139C>T
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_000405.5(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.395A>T (p.Tyr132Phe)
NM_000405.5(GM2A):c.426+6T>C
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>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.-7_1del (p.Met1fs) rs759154405
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.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.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.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.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.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.1330+4A>T
NM_000520.6(HEXA):c.1331G>A (p.Gly444Asp)
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.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.141G>C (p.Gln47His)
NM_000520.6(HEXA):c.1421+3A>T
NM_000520.6(HEXA):c.1421+6G>C
NM_000520.6(HEXA):c.1423C>T (p.Pro475Ser)
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.152G>C (p.Ser51Thr) rs2089058076
NM_000520.6(HEXA):c.1532G>T (p.Gly511Val)
NM_000520.6(HEXA):c.1556T>C (p.Val519Ala)
NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro) rs1432462387
NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly)
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.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.44C>T (p.Ala15Val)
NM_000520.6(HEXA):c.460-17A>G
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.511_513delinsAAA (p.Gly171Lys)
NM_000520.6(HEXA):c.512G>A (p.Gly171Asp) rs2088723709
NM_000520.6(HEXA):c.524A>G (p.Asp175Gly)
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+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.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>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.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.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.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_000521.4(HEXB):c.1048C>G (p.His350Asp)
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe)
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) rs1749652995
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.1416C>T (p.Gly472=)
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg)
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe)
NM_000521.4(HEXB):c.1508+6G>C
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)
NM_000521.4(HEXB):c.1614-6_1628dup rs2112188881
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.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.34C>T (p.Pro12Ser)
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser) rs1748945643
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser)
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.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.632G>C (p.Arg211Thr)
NM_000521.4(HEXB):c.646G>A (p.Val216Ile)
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp)
NM_000521.4(HEXB):c.710A>G (p.His237Arg)
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr)
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.844G>C (p.Gly282Arg)
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu)
NM_000521.4(HEXB):c.881A>G (p.His294Arg) rs1749605069
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg) rs2112172036
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala)
NM_000521.4(HEXB):c.96G>C (p.Gln32His)
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile) rs1561226697

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