ClinVar Miner

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

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Total variants: 134
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HGVS dbSNP
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NM_000520.5(HEXA):c.-136G>A rs561320483
NM_000520.5(HEXA):c.-59G>A rs147174351
NM_000520.6(HEXA):c.*12C>T rs532797279
NM_000520.6(HEXA):c.*200T>C rs886051461
NM_000520.6(HEXA):c.*355C>G rs188399769
NM_000520.6(HEXA):c.*436C>T rs112626309
NM_000520.6(HEXA):c.*575G>A rs76075374
NM_000520.6(HEXA):c.*76G>A rs558918292
NM_000520.6(HEXA):c.-1dup (p.Met1fs) rs1555475553
NM_000520.6(HEXA):c.-4G>A rs766510036
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.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.102C>T (p.Asp34=) rs377310315
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr)
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met) rs552505619
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg) rs764291005
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met)
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1]) rs1555472429
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis)
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) rs762494949
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
NM_000520.6(HEXA):c.1271G>A (p.Arg424His)
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) rs749368995
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) rs752223090
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1375A>G (p.Met459Val) rs547192168
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile)
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208
NM_000520.6(HEXA):c.1421+14G>C rs201497629
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+7del
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu) rs1185080097
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.1556T>A (p.Val519Glu)
NM_000520.6(HEXA):c.1571del (p.Gln524fs) rs1555472158
NM_000520.6(HEXA):c.1578del (p.Phe526fs) rs1555472157
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe) rs1595816175
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)
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)
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser)
NM_000520.6(HEXA):c.253+4A>C
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln) rs766966378
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) rs756740656
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) rs868358306
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.345T>G (p.Asn115Lys) rs774220090
NM_000520.6(HEXA):c.346+13C>T rs200871198
NM_000520.6(HEXA):c.346+2dup rs1430416918
NM_000520.6(HEXA):c.346+5G>A
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe)
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly)
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln) rs917904407
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
NM_000520.6(HEXA):c.412+5C>A
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile) rs1273494297
NM_000520.6(HEXA):c.446CTG[1] (p.Ala150del) rs1555473140
NM_000520.6(HEXA):c.460-19C>T
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.535C>T (p.His179Tyr) rs781493030
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro)
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp)
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser) rs753862880
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.598G>A (p.Val200Met) rs1800429
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.64G>A (p.Ala22Thr) rs756218457
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly) rs1595800426
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) rs780134593
NM_000520.6(HEXA):c.673-13T>C rs75211071
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538
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.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.749G>T (p.Gly250Val) rs121907959
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.6(HEXA):c.789T>C (p.Thr263=)
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435
NM_000520.6(HEXA):c.93A>T (p.Gln31His)
NM_000520.6(HEXA):c.941A>T (p.Asp314Val) rs1555472696
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NR_134869.1(HEXA):n.295A>G rs886051464
NR_134869.1(HEXA):n.321T>C rs886051463
NR_134869.1(HEXA):n.335G>A rs77707876
NR_134869.1(HEXA):n.361G>A rs886051462

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