ClinVar Miner

List of variants studied for Tay-Sachs disease by Counsyl

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 150
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HGVS dbSNP
NM_000520.5(HEXA):c.*12C>T rs532797279
NM_000520.5(HEXA):c.-167G>A rs77707876
NM_000520.5(HEXA):c.-1dup rs1555475553
NM_000520.5(HEXA):c.-207-2357_253+5128delinsG
NM_000520.5(HEXA):c.-4G>A rs766510036
NM_000520.5(HEXA):c.-59G>A rs147174351
NM_000520.5(HEXA):c.-7_1del rs759154405
NM_000520.5(HEXA):c.1003A>T (p.Ile335Phe) rs1555472604
NM_000520.5(HEXA):c.1008G>C (p.Gln336His) rs1555472602
NM_000520.5(HEXA):c.101A>G (p.Asp34Gly) rs1555475512
NM_000520.5(HEXA):c.1022A>G (p.Lys341Arg) rs1417593132
NM_000520.5(HEXA):c.1033G>A (p.Gly345Ser) rs775322979
NM_000520.5(HEXA):c.1043_1046del (p.Phe348Cysfs) rs1057516755
NM_000520.5(HEXA):c.1073+1G>A rs76173977
NM_000520.5(HEXA):c.1073+1G>T rs76173977
NM_000520.5(HEXA):c.1073+41C>T rs367719010
NM_000520.5(HEXA):c.1073+51G>A rs545676277
NM_000520.5(HEXA):c.1074-100T>C rs868411141
NM_000520.5(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.5(HEXA):c.1074-86G>A rs1050913691
NM_000520.5(HEXA):c.1084A>G (p.Ile362Val) rs771447407
NM_000520.5(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.5(HEXA):c.109T>A (p.Tyr37Asn) rs759157781
NM_000520.5(HEXA):c.10T>C (p.Ser4Pro) rs146938346
NM_000520.5(HEXA):c.1103A>G (p.Lys368Arg) rs764291005
NM_000520.5(HEXA):c.1123del (p.Glu375Argfs) rs766138785
NM_000520.5(HEXA):c.1140del (p.Val381Terfs) rs1555472553
NM_000520.5(HEXA):c.1146+18A>G rs1555472543
NM_000520.5(HEXA):c.1146+8G>A rs201453018
NM_000520.5(HEXA):c.1150C>T (p.Gln384Ter) rs1057516617
NM_000520.5(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.5(HEXA):c.1169_1171delAGGinsT (p.Gln390Leufs) rs1555472440
NM_000520.5(HEXA):c.1178G>A (p.Arg393Gln) rs370266293
NM_000520.5(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.5(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.5(HEXA):c.1214_1215delAAinsG (p.Glu405Glyfs) rs1555472432
NM_000520.5(HEXA):c.1214_1219del (p.Glu405_Leu406del) rs1555472429
NM_000520.5(HEXA):c.1229C>T (p.Ala410Val) rs151251788
NM_000520.5(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.5(HEXA):c.1237C>T (p.Arg413Trp) rs762494949
NM_000520.5(HEXA):c.1274_1277dup (p.Tyr427Ilefs) rs387906309
NM_000520.5(HEXA):c.1275A>G (p.Ile425Met) rs749368995
NM_000520.5(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.5(HEXA):c.1307_1308del (p.Ile436Serfs) rs777042785
NM_000520.5(HEXA):c.1319T>C (p.Leu440Pro) rs752223090
NM_000520.5(HEXA):c.1330+1G>A rs767041069
NM_000520.5(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.5(HEXA):c.1351C>G (p.Leu451Val) rs28940871
NM_000520.5(HEXA):c.1375A>G (p.Met459Val) rs547192168
NM_000520.5(HEXA):c.1393G>A (p.Asp465Asn) rs750727201
NM_000520.5(HEXA):c.1397A>G (p.Asn466Ser) rs200936836
NM_000520.5(HEXA):c.139C>T (p.Gln47Ter) rs745996955
NM_000520.5(HEXA):c.139_140delCAinsT (p.Gln47Cysfs) rs1555475498
NM_000520.5(HEXA):c.1416G>C (p.Arg472Ser) rs369117208
NM_000520.5(HEXA):c.1421+11del rs922064515
NM_000520.5(HEXA):c.1421+13G>A rs375201437
NM_000520.5(HEXA):c.1421+14G>C rs201497629
NM_000520.5(HEXA):c.1421+15G>C rs185764548
NM_000520.5(HEXA):c.1421+15G>T rs185764548
NM_000520.5(HEXA):c.1421+19dup rs780193130
NM_000520.5(HEXA):c.1421+1G>C rs147324677
NM_000520.5(HEXA):c.1421+1G>T rs147324677
NM_000520.5(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.5(HEXA):c.1422-1G>T rs1555472296
NM_000520.5(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.5(HEXA):c.1444G>A (p.Glu482Lys) rs121907952
NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.5(HEXA):c.1475A>G (p.Asp492Gly) rs761736583
NM_000520.5(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219
NM_000520.5(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.5(HEXA):c.1502C>G (p.Ser501Ter) rs1555472270
NM_000520.5(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.5(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.5(HEXA):c.1526+1G>T rs1309204908
NM_000520.5(HEXA):c.1526+2T>C rs1555472262
NM_000520.5(HEXA):c.1527-6T>C rs199914308
NM_000520.5(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.5(HEXA):c.1571del (p.Gln524Argfs) rs1555472158
NM_000520.5(HEXA):c.1578del (p.Phe526Leufs) rs1555472157
NM_000520.5(HEXA):c.183_193del (p.Asp62Profs) rs1057516640
NM_000520.5(HEXA):c.187G>T (p.Glu63Ter) rs759092928
NM_000520.5(HEXA):c.196C>T (p.Gln66Ter) rs1057516957
NM_000520.5(HEXA):c.1A>G (p.Met1Val) rs121907965
NM_000520.5(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.5(HEXA):c.211C>G (p.Leu71Val) rs775000497
NM_000520.5(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.5(HEXA):c.237_253+7del rs770628999
NM_000520.5(HEXA):c.24_25del (p.Ser9Alafs) rs1057517348
NM_000520.5(HEXA):c.253+1G>A rs770093080
NM_000520.5(HEXA):c.253+5074C>T rs149661366
NM_000520.5(HEXA):c.253+5107G>A rs748336538
NM_000520.5(HEXA):c.259C>T (p.Arg87Trp) rs573269641
NM_000520.5(HEXA):c.260G>A (p.Arg87Gln) rs766966378
NM_000520.5(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.5(HEXA):c.286G>A (p.Val96Ile) rs868358306
NM_000520.5(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.5(HEXA):c.304C>T (p.Pro102Ser) rs1217876329
NM_000520.5(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.5(HEXA):c.346+13C>T rs200871198
NM_000520.5(HEXA):c.346+1G>A rs797044432
NM_000520.5(HEXA):c.346+1G>C rs797044432
NM_000520.5(HEXA):c.346+1G>T rs797044432
NM_000520.5(HEXA):c.346+2dup rs1430416918
NM_000520.5(HEXA):c.388G>C (p.Glu130Gln) rs917904407
NM_000520.5(HEXA):c.38C>T (p.Ala13Val) rs145666272
NM_000520.5(HEXA):c.428G>T (p.Ser143Ile) rs1273494297
NM_000520.5(HEXA):c.436del (p.Val146Phefs) rs1057517174
NM_000520.5(HEXA):c.449_451del (p.Ala150del) rs1555473140
NM_000520.5(HEXA):c.459+2dup rs1555473138
NM_000520.5(HEXA):c.465del (p.Phe155Leufs) rs1057516850
NM_000520.5(HEXA):c.497G>A (p.Arg166His) rs398123442
NM_000520.5(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.5(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.5(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.5(HEXA):c.533G>A (p.Arg178His) rs28941770
NM_000520.5(HEXA):c.535C>T (p.His179Tyr) rs781493030
NM_000520.5(HEXA):c.53G>A (p.Gly18Glu) rs371133961
NM_000520.5(HEXA):c.545C>T (p.Pro182Leu) rs148511084
NM_000520.5(HEXA):c.548T>A (p.Leu183His) rs185797496
NM_000520.5(HEXA):c.551_552del (p.Ser184Terfs) rs1555473070
NM_000520.5(HEXA):c.570+1G>A rs786204754
NM_000520.5(HEXA):c.581C>T (p.Ala194Val) rs778947516
NM_000520.5(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.5(HEXA):c.598G>A (p.Val200Met) rs1800429
NM_000520.5(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.5(HEXA):c.60_61dup (p.Thr21Argfs) rs1057517296
NM_000520.5(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.5(HEXA):c.672+1G>A rs387906311
NM_000520.5(HEXA):c.673-13T>C rs75211071
NM_000520.5(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.5(HEXA):c.72G>A (p.Trp24Ter) rs1555475519
NM_000520.5(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.5(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.5(HEXA):c.749G>T (p.Gly250Val) rs121907959
NM_000520.5(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.5(HEXA):c.805+1G>A rs121907980
NM_000520.5(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000520.5(HEXA):c.806-1G>C rs1057516908
NM_000520.5(HEXA):c.806-7G>A rs770932296
NM_000520.5(HEXA):c.82C>T (p.Gln28Ter) rs751393950
NM_000520.5(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.5(HEXA):c.915_917del (p.Phe305del) rs121907960
NM_000520.5(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.5(HEXA):c.941A>T (p.Asp314Val) rs1555472696
NM_000520.5(HEXA):c.947dup (p.Tyr316Terfs) rs786204515
NM_000520.5(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.5(HEXA):c.977del (p.Phe326Serfs) rs756040251
NM_000520.5(HEXA):c.986+3A>G rs200926928
NM_001318825.1(HEXA):c.1394G>A (p.Gly465Asp) rs1229811721
NM_001318825.1(HEXA):c.1544G>A (p.Arg515His) rs121907955

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