ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 303
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys) rs777089012 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000548.5(TSC2):c.-82G>T rs1391750751 0.00004
NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg) rs944693159 0.00004
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) rs768864353 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn) rs45517343 0.00003
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp) rs1200837034 0.00003
NM_000548.5(TSC2):c.5068+8C>T rs747827911 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000548.5(TSC2):c.1113G>C (p.Gln371His) rs571767462 0.00002
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) rs1319342312 0.00002
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp) rs775881847 0.00002
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) rs764840082 0.00002
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg) rs1489623582 0.00002
NM_000548.5(TSC2):c.2479G>A (p.Val827Met) rs543738044 0.00002
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly) rs764608837 0.00002
NM_000548.5(TSC2):c.2967-15G>A rs375423568 0.00002
NM_000548.5(TSC2):c.3191A>G (p.Asn1064Ser) rs758690821 0.00002
NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg) rs747910305 0.00002
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln) rs746197874 0.00002
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483 0.00002
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939 0.00002
NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr) rs993614997 0.00002
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347 0.00002
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146 0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met) rs1188230416 0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_000548.5(TSC2):c.1739C>G (p.Ala580Gly) rs765043471 0.00001
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly) rs910068556 0.00001
NM_000548.5(TSC2):c.1813C>G (p.Pro605Ala) rs1295352648 0.00001
NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn) rs1334081822 0.00001
NM_000548.5(TSC2):c.1946+9G>T rs1470276886 0.00001
NM_000548.5(TSC2):c.2042T>C (p.Leu681Pro) rs878854079 0.00001
NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala) rs763351805 0.00001
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) rs749593050 0.00001
NM_000548.5(TSC2):c.233T>C (p.Val78Ala) rs1163221525 0.00001
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134 0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473 0.00001
NM_000548.5(TSC2):c.2515A>G (p.Met839Val) rs876660457 0.00001
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) rs774758044 0.00001
NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys) rs587778731 0.00001
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn) rs144329595 0.00001
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys) rs147523833 0.00001
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys) rs780981335 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2941A>G (p.Ser981Gly) rs2089595149 0.00001
NM_000548.5(TSC2):c.2956G>A (p.Val986Met) rs765489754 0.00001
NM_000548.5(TSC2):c.2971A>G (p.Ile991Val) rs369524855 0.00001
NM_000548.5(TSC2):c.3253T>C (p.Ser1085Pro) rs767655384 0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244 0.00001
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr) rs763122999 0.00001
NM_000548.5(TSC2):c.3695C>T (p.Ser1232Phe) rs886039876 0.00001
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser) rs1233661099 0.00001
NM_000548.5(TSC2):c.3940C>G (p.Pro1314Ala) rs771499212 0.00001
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104 0.00001
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509 0.00001
NM_000548.5(TSC2):c.4210A>G (p.Lys1404Glu) rs1384101814 0.00001
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn) rs1267811475 0.00001
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg) rs562443546 0.00001
NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys) rs766916450 0.00001
NM_000548.5(TSC2):c.4561C>T (p.Pro1521Ser) rs1468281970 0.00001
NM_000548.5(TSC2):c.4568A>G (p.Glu1523Gly) rs777406873 0.00001
NM_000548.5(TSC2):c.4569+5G>A rs746446349 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464 0.00001
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp) rs777592623 0.00001
NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly) rs767444397 0.00001
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys) rs1555438551 0.00001
NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val) rs1373235682 0.00001
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu) rs747538587 0.00001
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) rs140526185 0.00001
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281 0.00001
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu) rs45517414 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000548.5(TSC2):c.997G>T (p.Val333Leu) rs1336741146 0.00001
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys) rs45517144
NM_000548.5(TSC2):c.1024A>C (p.Ile342Leu)
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val) rs902767624
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln) rs45517148
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro) rs1060500919
NM_000548.5(TSC2):c.1172_1174del (p.Val391del) rs1567428371
NM_000548.5(TSC2):c.1180C>A (p.Leu394Met) rs1409309186
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val) rs1409309186
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys) rs773920155
NM_000548.5(TSC2):c.1202A>C (p.His401Pro) rs2086691569
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly) rs1057518321
NM_000548.5(TSC2):c.1216A>G (p.Arg406Gly) rs2151156367
NM_000548.5(TSC2):c.1257+172C>G
NM_000548.5(TSC2):c.1258-6T>A
NM_000548.5(TSC2):c.125C>G (p.Ala42Gly)
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met) rs45478892
NM_000548.5(TSC2):c.1289G>C (p.Arg430Thr) rs2086770532
NM_000548.5(TSC2):c.1295A>G (p.Gln432Arg)
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu) rs769147552
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.142C>G (p.Leu48Val) rs1486839704
NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu) rs2151173141
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1481C>A (p.Ser494Tyr)
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.153A>T (p.Glu51Asp) rs746366461
NM_000548.5(TSC2):c.1559A>G (p.His520Arg) rs1220672669
NM_000548.5(TSC2):c.1561A>G (p.Thr521Ala) rs1279109316
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr) rs2151191974
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly) rs924098595
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu) rs764191178
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val) rs1465307943
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro) rs763183991
NM_000548.5(TSC2):c.1671G>A (p.Leu557=) rs761975891
NM_000548.5(TSC2):c.1716+15C>G rs199964793
NM_000548.5(TSC2):c.1717A>C (p.Thr573Pro)
NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser) rs45517196
NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly) rs370324876
NM_000548.5(TSC2):c.1762G>A (p.Glu588Lys) rs1596336374
NM_000548.5(TSC2):c.1786C>T (p.Leu596Phe)
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val) rs1285778253
NM_000548.5(TSC2):c.183A>G (p.Ile61Met) rs2084961841
NM_000548.5(TSC2):c.1840-4A>G rs1057523736
NM_000548.5(TSC2):c.1867G>A (p.Ala623Thr)
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val) rs570409651
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu) rs1596342515
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.1912G>T (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.1933G>T (p.Val645Phe) rs746677177
NM_000548.5(TSC2):c.1955A>T (p.Glu652Val)
NM_000548.5(TSC2):c.1982G>A (p.Gly661Asp) rs1213719461
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) rs794727221
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala) rs1338802781
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu) rs756536921
NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)
NM_000548.5(TSC2):c.2098-3C>A rs876660489
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn) rs1013995962
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala) rs397515068
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) rs778040604
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro) rs876659689
NM_000548.5(TSC2):c.2158A>G (p.Lys720Glu) rs1195091149
NM_000548.5(TSC2):c.2218A>G (p.Met740Val) rs757345150
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2272T>C (p.Ser758Pro) rs2151327279
NM_000548.5(TSC2):c.2288A>C (p.His763Pro)
NM_000548.5(TSC2):c.2288A>T (p.His763Leu)
NM_000548.5(TSC2):c.2295C>G (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser) rs777459404
NM_000548.5(TSC2):c.2324C>T (p.Ser775Phe) rs2088701360
NM_000548.5(TSC2):c.2329C>T (p.His777Tyr) rs1349953143
NM_000548.5(TSC2):c.2342A>G (p.Asp781Gly) rs2088705306
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val) rs1596356291
NM_000548.5(TSC2):c.2396G>A (p.Arg799His) rs1567474646
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup) rs1298756950
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.2479GTG[1] (p.Val828del) rs1596356726
NM_000548.5(TSC2):c.2512A>G (p.Ser838Gly)
NM_000548.5(TSC2):c.2545+4A>G rs2088951100
NM_000548.5(TSC2):c.2546-6C>G
NM_000548.5(TSC2):c.2552C>T (p.Ala851Val) rs1596364874
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser) rs1555508378
NM_000548.5(TSC2):c.2607C>A (p.Phe869Leu) rs750336814
NM_000548.5(TSC2):c.2608G>A (p.Ala870Thr) rs1060500975
NM_000548.5(TSC2):c.2612T>C (p.Ile871Thr) rs2089269466
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu) rs2151382293
NM_000548.5(TSC2):c.2656G>A (p.Val886Met) rs999523698
NM_000548.5(TSC2):c.2734A>C (p.Ile912Leu)
NM_000548.5(TSC2):c.2740A>C (p.Lys914Gln) rs1422374195
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe) rs587778731
NM_000548.5(TSC2):c.2787G>T (p.Glu929Asp) rs968144525
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.2836A>G (p.Ser946Gly) rs2151396480
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.2885C>T (p.Pro962Leu) rs367640434
NM_000548.5(TSC2):c.2896T>G (p.Phe966Val)
NM_000548.5(TSC2):c.2904G>C (p.Glu968Asp) rs765438249
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro) rs779832805
NM_000548.5(TSC2):c.2992G>C (p.Ala998Pro) rs1440361406
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) rs1440361406
NM_000548.5(TSC2):c.3052C>T (p.Leu1018Phe) rs1034696882
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro) rs1555510317
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met) rs1596382895
NM_000548.5(TSC2):c.3167G>A (p.Arg1056Lys)
NM_000548.5(TSC2):c.3227G>C (p.Gly1076Ala)
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu) rs397515087
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys) rs1085307762
NM_000548.5(TSC2):c.3263T>C (p.Leu1088Pro)
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) rs775584262
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile) rs946381749
NM_000548.5(TSC2):c.3344_3364dup (p.Gln1115_Ser1121dup) rs1567500517
NM_000548.5(TSC2):c.3365G>T (p.Arg1122Leu) rs369536711
NM_000548.5(TSC2):c.3393G>T (p.Met1131Ile) rs1297504532
NM_000548.5(TSC2):c.3502_3503delinsGC (p.Lys1168Ala)
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser) rs137854421
NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg) rs755559677
NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu) rs933257311
NM_000548.5(TSC2):c.365T>A (p.Leu122His) rs756263581
NM_000548.5(TSC2):c.3740C>G (p.Thr1247Arg) rs2151483328
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys) rs1555494586
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs) rs1555512845
NM_000548.5(TSC2):c.3867G>T (p.Arg1289Ser) rs1008733639
NM_000548.5(TSC2):c.3870C>G (p.Ser1290Arg) rs754466663
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe) rs796053497
NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr) rs1349341137
NM_000548.5(TSC2):c.391C>G (p.Pro131Ala) rs777398393
NM_000548.5(TSC2):c.3944C>T (p.Pro1315Leu) rs775990159
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3977T>C (p.Met1326Thr) rs2090429801
NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val)
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys) rs878854099
NM_000548.5(TSC2):c.4005+4_4005+7dup rs796053519
NM_000548.5(TSC2):c.4005G>C (p.Arg1335Ser) rs2090436302
NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp) rs148527903
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4031A>G (p.Glu1344Gly) rs2090482288
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) rs1555513911
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.5(TSC2):c.411C>G (p.His137Gln) rs776129896
NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe) rs145476528
NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp) rs375785710
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val) rs1204349917
NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val)
NM_000548.5(TSC2):c.4369C>T (p.Arg1457Trp) rs746729857
NM_000548.5(TSC2):c.4393G>A (p.Asp1465Asn) rs1425542648
NM_000548.5(TSC2):c.439A>G (p.Thr147Ala) rs1596265301
NM_000548.5(TSC2):c.4400C>T (p.Ala1467Val) rs2090531407
NM_000548.5(TSC2):c.4421G>A (p.Arg1474Lys) rs2090535225
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile) rs1202676769
NM_000548.5(TSC2):c.4435G>C (p.Ala1479Pro)
NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr)
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met) rs928525608
NM_000548.5(TSC2):c.4520C>G (p.Ser1507Cys) rs746246149
NM_000548.5(TSC2):c.4564A>G (p.Asn1522Asp) rs2090589266
NM_000548.5(TSC2):c.4565A>C (p.Asn1522Thr) rs144062721
NM_000548.5(TSC2):c.4569+3A>G rs2090590453
NM_000548.5(TSC2):c.4570-3_4570-2del rs2090619495
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) rs45517352
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp) rs199848388
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln) rs769834772
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val) rs878854109
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg) rs151140709
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met) rs1327099376
NM_000548.5(TSC2):c.4744A>G (p.Ile1582Val)
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu) rs1366814192
NM_000548.5(TSC2):c.476A>T (p.Glu159Val) rs1555497716
NM_000548.5(TSC2):c.4772A>G (p.Lys1591Arg) rs1596439144
NM_000548.5(TSC2):c.481+5G>C rs137854135
NM_000548.5(TSC2):c.4845G>A (p.Met1615Ile) rs2090790316
NM_000548.5(TSC2):c.4849G>A (p.Ala1617Thr) rs2090791005
NM_000548.5(TSC2):c.4850-5C>G
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val) rs1555516628
NM_000548.5(TSC2):c.4942A>C (p.Ile1648Leu) rs749554579
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val) rs1189857262
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=) rs1567124948
NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp) rs1182240785
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr) rs1555439825
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser) rs777223264
NM_000548.5(TSC2):c.5093G>C (p.Ser1698Thr) rs1267700080
NM_000548.5(TSC2):c.5102_5104del (p.Lys1701del)
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala) rs45498401
NM_000548.5(TSC2):c.5119A>C (p.Asn1707His) rs1300582033
NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu) rs760978505
NM_000548.5(TSC2):c.5174T>C (p.Val1725Ala)
NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu)
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro) rs1596460327
NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala) rs1596460327
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val) rs878854117
NM_000548.5(TSC2):c.5204T>G (p.Ile1735Ser) rs786203769
NM_000548.5(TSC2):c.523G>C (p.Glu175Gln) rs1555498151
NM_000548.5(TSC2):c.5260-18A>G
NM_000548.5(TSC2):c.5260-1G>A rs1057518103
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.5(TSC2):c.5302G>C (p.Val1768Leu)
NM_000548.5(TSC2):c.5309C>G (p.Pro1770Arg) rs771357054
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val) rs755900742
NM_000548.5(TSC2):c.5344G>T (p.Ala1782Ser) rs1405712076
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp) rs966695764
NM_000548.5(TSC2):c.5391C>G (p.Ile1797Met)
NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.599+5_599+7del rs2151062123
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe) rs878854120
NM_000548.5(TSC2):c.641_648+1del rs2085795613
NM_000548.5(TSC2):c.722T>C (p.Val241Ala) rs888878542
NM_000548.5(TSC2):c.724A>G (p.Thr242Ala)
NM_000548.5(TSC2):c.746T>C (p.Val249Ala) rs1596278719
NM_000548.5(TSC2):c.748A>G (p.Lys250Glu) rs2085894886
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly) rs1596280931
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.916G>T (p.Ala306Ser)
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) rs878854122

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