ClinVar Miner

List of variants in gene HEXA reported as uncertain significance for Tay-Sachs disease

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Gene type:
ClinVar version:
Total variants: 365
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HGVS dbSNP gnomAD frequency
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000520.6(HEXA):c.*575G>A rs76075374 0.01411
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00469
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00405
NM_000520.6(HEXA):c.*76G>A rs558918292 0.00257
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00156
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538 0.00107
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00096
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000520.5(HEXA):c.-136G>A rs561320483 0.00056
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000520.6(HEXA):c.*436C>T rs112626309 0.00039
NM_000520.6(HEXA):c.*355C>G rs188399769 0.00036
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00029
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084 0.00019
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00017
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583 0.00017
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788 0.00015
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00014
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293 0.00013
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346 0.00011
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208 0.00011
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516 0.00010
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798 0.00010
NM_000520.5(HEXA):c.-141G>A rs886051462 0.00009
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272 0.00009
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315 0.00008
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00008
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.855C>T (p.Gly285=) rs768518776 0.00007
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) rs762494949 0.00006
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457 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_000520.6(HEXA):c.104A>C (p.Gln35Pro) rs140868947 0.00005
NM_000520.6(HEXA):c.1088T>A (p.Val363Asp) rs746202567 0.00005
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645 0.00005
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) rs868358306 0.00005
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961 0.00005
NM_000520.6(HEXA):c.706G>A (p.Ala236Thr) rs757119445 0.00005
NM_000520.6(HEXA):c.1009G>A (p.Asp337Asn) rs2542520536 0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
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.1166T>C (p.Ile389Thr) rs146714642 0.00003
NM_000520.6(HEXA):c.1339G>A (p.Glu447Lys) rs758066266 0.00003
NM_000520.6(HEXA):c.1399A>G (p.Thr467Ala) rs765590079 0.00003
NM_000520.6(HEXA):c.1421+4A>G rs953579005 0.00003
NM_000520.6(HEXA):c.1439T>C (p.Val480Ala) rs376929315 0.00003
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly) rs373781108 0.00003
NM_000520.6(HEXA):c.16C>A (p.Leu6Ile) rs1167125379 0.00003
NM_000520.6(HEXA):c.176C>T (p.Ser59Leu) rs146577256 0.00003
NM_000520.6(HEXA):c.367G>A (p.Asp123Asn) rs768750119 0.00003
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys) rs759487463 0.00003
NM_000520.6(HEXA):c.642G>C (p.Glu214Asp) rs139948663 0.00003
NM_000520.6(HEXA):c.672G>A (p.Lys224=) rs780134593 0.00003
NM_000520.6(HEXA):c.*12C>T rs532797279 0.00002
NM_000520.6(HEXA):c.1146+18A>G rs1555472543 0.00002
NM_000520.6(HEXA):c.1346A>G (p.Lys449Arg) rs751934469 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.754C>T (p.Arg252Cys) rs566580738 0.00002
NM_000520.6(HEXA):c.857C>T (p.Thr286Ile) rs2088663060 0.00002
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435 0.00002
NM_000520.6(HEXA):c.947A>G (p.Tyr316Cys) rs1222599742 0.00002
NM_000520.5(HEXA):c.-207A>G rs886051464 0.00001
NM_000520.6(HEXA):c.1019G>A (p.Arg340Lys) rs1297553035 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.1042T>G (p.Phe348Val) rs574497871 0.00001
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407 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.1109A>G (p.Tyr370Cys) rs1209189473 0.00001
NM_000520.6(HEXA):c.1135A>G (p.Asn379Asp) rs776119987 0.00001
NM_000520.6(HEXA):c.1142T>A (p.Val381Glu) rs746272701 0.00001
NM_000520.6(HEXA):c.1145A>C (p.Lys382Thr) rs960869164 0.00001
NM_000520.6(HEXA):c.1154C>T (p.Pro385Leu) rs768164612 0.00001
NM_000520.6(HEXA):c.1160C>T (p.Thr387Ile) rs910063850 0.00001
NM_000520.6(HEXA):c.1165A>G (p.Ile389Val) rs777212186 0.00001
NM_000520.6(HEXA):c.1168C>G (p.Gln390Glu) rs988192535 0.00001
NM_000520.6(HEXA):c.1189C>A (p.Pro397Thr) rs778878211 0.00001
NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser) rs755973971 0.00001
NM_000520.6(HEXA):c.1226A>G (p.Lys409Arg) rs752583618 0.00001
NM_000520.6(HEXA):c.1252G>T (p.Ala418Ser) rs1224276108 0.00001
NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly) rs201471936 0.00001
NM_000520.6(HEXA):c.1256C>G (p.Pro419Arg) rs772431056 0.00001
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val) rs774562271 0.00001
NM_000520.6(HEXA):c.1270C>T (p.Arg424Cys) rs1595797170 0.00001
NM_000520.6(HEXA):c.1271G>A (p.Arg424His) rs535095877 0.00001
NM_000520.6(HEXA):c.1276T>G (p.Ser426Ala) rs1464696678 0.00001
NM_000520.6(HEXA):c.1288G>A (p.Asp430Asn) rs2088617050 0.00001
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) rs202173526 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.1337C>T (p.Pro446Leu) rs939203533 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.1469C>T (p.Thr490Ile) rs2088600309 0.00001
NM_000520.6(HEXA):c.1474G>C (p.Asp492His) rs767554113 0.00001
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu) rs1185080097 0.00001
NM_000520.6(HEXA):c.1488C>G (p.Ala496=) rs1179136996 0.00001
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln) rs745432499 0.00001
NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly) rs2542505567 0.00001
NM_000520.6(HEXA):c.167C>T (p.Pro56Leu) rs955535343 0.00001
NM_000520.6(HEXA):c.17T>G (p.Leu6Arg) rs1424640566 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.253+5G>T rs781345077 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.285G>C (p.Leu95Phe) rs765667778 0.00001
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) rs1217876329 0.00001
NM_000520.6(HEXA):c.308G>A (p.Gly103Glu) rs917574824 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.364G>C (p.Asp122His) rs2088766688 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.4A>G (p.Thr2Ala) rs2089062515 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.577A>G (p.Met193Val) rs748427632 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.607T>G (p.Trp203Gly) rs1002712424 0.00001
NM_000520.6(HEXA):c.616G>A (p.Val206Ile) rs543071358 0.00001
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys) rs1227959449 0.00001
NM_000520.6(HEXA):c.65C>T (p.Ala22Val) rs750498339 0.00001
NM_000520.6(HEXA):c.664A>C (p.Met222Leu) rs768751360 0.00001
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519 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.848C>T (p.Pro283Leu) rs1158668961 0.00001
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu) rs2088663016 0.00001
NM_000520.6(HEXA):c.884A>G (p.Asn295Ser) rs199578185 0.00001
NM_000520.6(HEXA):c.889A>G (p.Thr297Ala) rs1326725996 0.00001
NM_000520.6(HEXA):c.901A>C (p.Met301Leu) rs758871181 0.00001
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977 0.00001
NM_000520.6(HEXA):c.908C>T (p.Thr303Ile) rs1181164048 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
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NC_000015.9:g.(?_72666113)_(72666961_?)del
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.100G>A (p.Asp34Asn) rs1453144677
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.1058C>T (p.Ser353Phe) rs2140322145
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys) rs2089059184
NM_000520.6(HEXA):c.1073+10G>T rs1458405375
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) rs2542582198
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1087G>T (p.Val363Phe) rs557550173
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr) rs2088636561
NM_000520.6(HEXA):c.1091C>G (p.Ser364Cys) rs781611898
NM_000520.6(HEXA):c.1091CTT[1] (p.Ser365del) rs2088636297
NM_000520.6(HEXA):c.1099G>A (p.Gly367Ser) rs2140321869
NM_000520.6(HEXA):c.10_12dup (p.Ser4_Arg5insSer) rs2089062008
NM_000520.6(HEXA):c.1108T>A (p.Tyr370Asn) rs2542518848
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) rs759434633
NM_000520.6(HEXA):c.1121A>G (p.Gln374Arg) rs1057519464
NM_000520.6(HEXA):c.1136A>G (p.Asn379Ser) rs770176144
NM_000520.6(HEXA):c.1147-3C>T rs1304188592
NM_000520.6(HEXA):c.1152G>C (p.Gln384His) rs2542514881
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile) rs755973971
NM_000520.6(HEXA):c.1198T>C (p.Tyr400His) rs2542514602
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1209G>T (p.Glu403Asp) rs2542514542
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1]) rs1555472429
NM_000520.6(HEXA):c.121C>T (p.Pro41Ser) rs774947508
NM_000520.6(HEXA):c.1238G>A (p.Arg413Gln) rs766988109
NM_000520.6(HEXA):c.1238G>C (p.Arg413Pro) rs766988109
NM_000520.6(HEXA):c.1250C>G (p.Ser417Cys) rs1321597225
NM_000520.6(HEXA):c.1253C>A (p.Ala418Asp) rs201471936
NM_000520.6(HEXA):c.1273A>G (p.Ile425Val) rs2088617363
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) rs749368995
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.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) rs2542513826
NM_000520.6(HEXA):c.1330+4A>T rs2542513806
NM_000520.6(HEXA):c.1331G>A (p.Gly444Asp) rs754440146
NM_000520.6(HEXA):c.1333A>G (p.Thr445Ala) rs2542513018
NM_000520.6(HEXA):c.1336C>T (p.Pro446Ser) rs750903859
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) rs1567295650
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) rs1336841803
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly) rs1595816387
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile) rs746828145
NM_000520.6(HEXA):c.1412C>G (p.Pro471Arg) rs1567295568
NM_000520.6(HEXA):c.141G>C (p.Gln47His) rs2542581949
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+3A>T rs2088611168
NM_000520.6(HEXA):c.1421+6G>C rs1035068915
NM_000520.6(HEXA):c.1421+7del rs747378954
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) rs145012038
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) rs2088600361
NM_000520.6(HEXA):c.1478T>C (p.Leu493Pro) rs2542509709
NM_000520.6(HEXA):c.1481C>G (p.Thr494Arg) rs2088600017
NM_000520.6(HEXA):c.148G>A (p.Val50Ile) rs757285705
NM_000520.6(HEXA):c.1509C>G (p.Phe503Leu) rs1248458266
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) rs1448744870
NM_000520.6(HEXA):c.1556T>A (p.Val519Glu) rs2088580697
NM_000520.6(HEXA):c.1556T>C (p.Val519Ala) rs2088580697
NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro) rs1432462387
NM_000520.6(HEXA):c.1571del (p.Gln524fs) rs1555472158
NM_000520.6(HEXA):c.1578del (p.Phe526fs) rs1555472157
NM_000520.6(HEXA):c.157G>A (p.Ala53Thr) rs2140344593
NM_000520.6(HEXA):c.157G>T (p.Ala53Ser) rs2140344593
NM_000520.6(HEXA):c.161C>T (p.Ala54Val)
NM_000520.6(HEXA):c.167C>G (p.Pro56Arg) rs955535343
NM_000520.6(HEXA):c.169G>C (p.Gly57Arg) rs2089057551
NM_000520.6(HEXA):c.178G>T (p.Val60Phe) rs2542581637
NM_000520.6(HEXA):c.179T>C (p.Val60Ala) rs2089057089
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe) rs1595816175
NM_000520.6(HEXA):c.190G>A (p.Ala64Thr) rs2089056664
NM_000520.6(HEXA):c.200G>A (p.Arg67His) rs1213459678
NM_000520.6(HEXA):c.200G>T (p.Arg67Leu) rs1213459678
NM_000520.6(HEXA):c.203A>G (p.Tyr68Cys) rs2089056182
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) rs1595816116
NM_000520.6(HEXA):c.230C>T (p.Ser77Phe) rs2089055459
NM_000520.6(HEXA):c.236C>G (p.Pro79Arg) rs2542581182
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 rs781345077
NM_000520.6(HEXA):c.254G>A (p.Gly85Glu) rs2542540266
NM_000520.6(HEXA):c.260G>T (p.Arg87Leu) rs766966378
NM_000520.6(HEXA):c.277A>G (p.Asn93Asp) rs2140329070
NM_000520.6(HEXA):c.293C>G (p.Ser98Cys) rs2088784295
NM_000520.6(HEXA):c.298G>T (p.Val100Phe) rs794727250
NM_000520.6(HEXA):c.307G>A (p.Gly103Arg) rs2542540097
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) rs2542582642
NM_000520.6(HEXA):c.350C>A (p.Thr117Asn) rs2542537970
NM_000520.6(HEXA):c.358A>G (p.Ile120Val) rs1567300305
NM_000520.6(HEXA):c.367G>T (p.Asp123Tyr) rs768750119
NM_000520.6(HEXA):c.37G>A (p.Ala13Thr) rs2542582622
NM_000520.6(HEXA):c.386C>G (p.Ser129Cys) rs1295567201
NM_000520.6(HEXA):c.395T>G (p.Val132Gly) rs2542537802
NM_000520.6(HEXA):c.412+5C>A rs2088765141
NM_000520.6(HEXA):c.417_418delinsTC (p.Glu140Gln) rs2542534180
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) rs2542582575
NM_000520.6(HEXA):c.460-17A>G rs200177553
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) rs930231608
NM_000520.6(HEXA):c.472A>G (p.Lys158Glu) rs752813753
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys) rs2088724627
NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu) rs2542582542
NM_000520.6(HEXA):c.505C>G (p.His169Asp) rs2088723994
NM_000520.6(HEXA):c.50C>T (p.Ala17Val) rs2089060890
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) rs1057519460
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) rs148511084
NM_000520.6(HEXA):c.566C>G (p.Thr189Ser) rs753831831
NM_000520.6(HEXA):c.568C>T (p.Leu190=) rs2542532377
NM_000520.6(HEXA):c.570+3A>C rs2542532351
NM_000520.6(HEXA):c.572A>G (p.Asp191Gly) rs2140324755
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.598G>T (p.Val200Leu) rs1800429
NM_000520.6(HEXA):c.59C>G (p.Ala20Gly) rs749545037
NM_000520.6(HEXA):c.59C>T (p.Ala20Val) rs749545037
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) rs121907961
NM_000520.6(HEXA):c.62C>T (p.Thr21Met) rs780078337
NM_000520.6(HEXA):c.658G>C (p.Glu220Gln) rs2542528069
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) rs749422284
NM_000520.6(HEXA):c.672+3A>T rs572232325
NM_000520.6(HEXA):c.680A>G (p.Tyr227Cys) rs1291892323
NM_000520.6(HEXA):c.699C>G (p.Ile233Met) rs2140324240
NM_000520.6(HEXA):c.701A>G (p.Tyr234Cys) rs2542526663
NM_000520.6(HEXA):c.70T>A (p.Trp24Arg) rs2140344766
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.749G>T (p.Gly250Val) rs121907959
NM_000520.6(HEXA):c.757G>T (p.Val253Leu) rs774868739
NM_000520.6(HEXA):c.764C>T (p.Ala255Val) rs370576428
NM_000520.6(HEXA):c.775A>G (p.Thr259Ala) rs745997044
NM_000520.6(HEXA):c.785A>G (p.His262Arg) rs2542526276
NM_000520.6(HEXA):c.787A>G (p.Thr263Ala) rs2542526263
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.799G>A (p.Gly267Arg)
NM_000520.6(HEXA):c.80C>T (p.Pro27Leu) rs1344884967
NM_000520.6(HEXA):c.818T>C (p.Leu273Ser) rs2088664026
NM_000520.6(HEXA):c.823A>G (p.Thr275Ala) rs1595799185
NM_000520.6(HEXA):c.826C>G (p.Pro276Ala) rs773093433
NM_000520.6(HEXA):c.833A>G (p.Tyr278Cys) rs772036483
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) rs778191188
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.913T>C (p.Phe305Leu) rs2542522752
NM_000520.6(HEXA):c.926G>A (p.Ser309Asn) rs2088661242
NM_000520.6(HEXA):c.926G>C (p.Ser309Thr) rs2088661242
NM_000520.6(HEXA):c.929C>T (p.Ser310Phe) rs2542522706
NM_000520.6(HEXA):c.931_942del (p.Val311_Asp314del) rs2542522660
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.986+6A>T rs2542522507
NM_000520.6(HEXA):c.98C>G (p.Ser33Cys) rs1416996557
NM_000520.6(HEXA):c.994A>C (p.Asn332His) rs2542520604
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys) rs2542520592
NM_000520.6(HEXA):c.997C>G (p.Pro333Ala) rs2542520587

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