ClinVar Miner

List of variants studied for Tay-Sachs disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 245
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HGVS dbSNP
HEXA, 2-BP DEL, CODON 310
HEXA, 2-BP DEL, TG, EX5
HEXA, 5-BP DEL, TCTCC, IVS9
HEXA, IVS2, G-A, +1
HEXA, IVS4, G-T, -1
HEXA, IVS7, G-A, +1
NC_000015.9:g.(?_72637787)_(72639051_?)del
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NM_000405.5(GM2A):c.333del (p.Cys112fs) rs587779405
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.4(HEXA):c.[574G>C;598G>A]
NM_000520.5(HEXA):c.-136G>A rs561320483
NM_000520.5(HEXA):c.-141G>A rs886051462
NM_000520.5(HEXA):c.-167G>A rs77707876
NM_000520.5(HEXA):c.-181T>C rs886051463
NM_000520.5(HEXA):c.-207-2357_253+5128delinsG
NM_000520.5(HEXA):c.-207A>G rs886051464
NM_000520.5(HEXA):c.-59G>A rs147174351
NM_000520.5(HEXA):c.1073C>T (p.Thr358Met)
NM_000520.5(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.5(HEXA):c.1177C>T (p.Arg393Ter) rs121907963
NM_000520.5(HEXA):c.1274_1277dup (p.Tyr427Ilefs) rs387906309
NM_000520.5(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.5(HEXA):c.1496G>A (p.Arg499His) rs121907956
NM_000520.5(HEXA):c.533G>A (p.Arg178His) rs28941770
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.5(HEXA):c.772G>C (p.Asp258His) rs121907971
NM_000520.5(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000520.5(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.5(HEXA):c.915_917del (p.Phe305del) rs121907960
NM_000520.5(HEXA):c.964G>A (p.Asp322Asn) rs772180415
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.*515G>A rs3087652
NM_000520.6(HEXA):c.*575G>A rs76075374
NM_000520.6(HEXA):c.*589T>G rs11629508
NM_000520.6(HEXA):c.*630A>G rs35949555
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)
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1073+1G>T rs76173977
NM_000520.6(HEXA):c.1073+41C>T rs367719010
NM_000520.6(HEXA):c.1073+51G>A rs545676277
NM_000520.6(HEXA):c.1074-100T>C rs868411141
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1074-86G>A rs1050913691
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.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.1121A>C (p.Gln374Pro) rs1057519464
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1146+8G>A rs201453018
NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter) rs1057516617
NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs) rs1555472440
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg) rs121907979
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) rs370266293
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1214_1215delinsG (p.Glu405fs) rs1555472432
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.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.1259G>A (p.Trp420Ter) rs1057519465
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) rs749368995
NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs) rs1555472406
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) rs752223090
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg) rs121907978
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.1385A>T (p.Glu462Val) rs863225434
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.139C>T (p.Gln47Ter) rs745996955
NM_000520.6(HEXA):c.139_140delinsT (p.Gln47fs) rs1555475498
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208
NM_000520.6(HEXA):c.1421+11del rs922064515
NM_000520.6(HEXA):c.1421+13G>A rs375201437
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+14G>C rs201497629
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+15G>T rs185764548
NM_000520.6(HEXA):c.1421+1G>C rs147324677
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1422-1G>T rs1555472296
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) rs1057519467
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu)
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter) rs1555472270
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1526+2T>C rs1555472262
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.1571del (p.Gln524fs) rs1555472158
NM_000520.6(HEXA):c.1578del (p.Phe526fs) rs1555472157
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) rs387906949
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe)
NM_000520.6(HEXA):c.183_193del (p.Asp62fs) rs1057516640
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928
NM_000520.6(HEXA):c.196C>T (p.Gln66Ter) rs1057516957
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
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.237_253+7del rs770628999
NM_000520.6(HEXA):c.24_25del (p.Ser9fs) rs1057517348
NM_000520.6(HEXA):c.253+1G>A rs770093080
NM_000520.6(HEXA):c.253+5074C>T rs149661366
NM_000520.6(HEXA):c.253+5107G>A rs748336538
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.26C>A (p.Ser9Ter) rs769370282
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.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) rs1217876329
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)
NM_000520.6(HEXA):c.346+13C>T rs200871198
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.346+1G>C rs797044432
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.346+2dup rs1430416918
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
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.3G>A (p.Met1Ile)
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)
NM_000520.6(HEXA):c.426del (p.Phe142fs) rs1057519458
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile) rs1273494297
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter)
NM_000520.6(HEXA):c.436del (p.Val146fs) rs1057517174
NM_000520.6(HEXA):c.446_448CTG[1] (p.Ala150del) rs1555473140
NM_000520.6(HEXA):c.459+2dup rs1555473138
NM_000520.6(HEXA):c.459+4A>C rs1057519459
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.460-1G>A rs764343937
NM_000520.6(HEXA):c.460-1G>T rs764343937
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) rs1057519460
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu) rs28941770
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.540C>G (p.Tyr180Ter) rs121907969
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084
NM_000520.6(HEXA):c.546dup (p.Leu183fs)
NM_000520.6(HEXA):c.547_548CT[2] (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.571-1G>T
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)
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.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.616G>C (p.Val206Leu) rs543071358
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.632T>C (p.Phe211Ser) rs121907974
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)
NM_000520.6(HEXA):c.673-13T>C rs75211071
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.718_719insT (p.Lys240fs) rs587779407
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter) 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.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805+1G>C rs121907980
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.806-1G>C rs1057516908
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950
NM_000520.6(HEXA):c.898_905del (p.Phe300fs) rs1057519463
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.927_928CT[1] (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.941A>T (p.Asp314Val) rs1555472696
NM_000520.6(HEXA):c.947dup (p.Tyr316Ter) rs786204515
NM_000520.6(HEXA):c.959_961GAG[1] (p.Gly321del) rs797044434
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.977del (p.Phe326fs) rs756040251
NM_000520.6(HEXA):c.986+3A>G rs200926928
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_001318825.1(HEXA):c.1544G>A (p.Arg515His) rs121907955

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