ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 462
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu) rs1053311636 0.00006
NM_000548.5(TSC2):c.648+6T>C rs372007135 0.00006
NM_000548.5(TSC2):c.1874C>T (p.Ser625Leu) rs368285556 0.00005
NM_000548.5(TSC2):c.2220+4C>G rs781186613 0.00005
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys) rs777089012 0.00005
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr) rs145258407 0.00004
NM_000548.5(TSC2):c.2859C>T (p.Pro953=) rs397514968 0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790 0.00004
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys) rs201670791 0.00004
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val) rs773951533 0.00004
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970 0.00004
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu) rs749326176 0.00004
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys) rs370324876 0.00003
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu) rs370553131 0.00003
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val) rs397514984 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp) rs397514887 0.00003
NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr) rs1057522800 0.00003
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp) rs1200837034 0.00003
NM_000548.5(TSC2):c.5161-5C>A rs775534948 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp) rs904411432 0.00003
NM_000548.5(TSC2):c.828G>A (p.Met276Ile) rs1318274503 0.00003
NM_000548.5(TSC2):c.849-9dup rs764626623 0.00003
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp) rs201144475 0.00003
NM_000548.5(TSC2):c.1883G>A (p.Arg628His) rs774895427 0.00002
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) rs1319342312 0.00002
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val) rs754556513 0.00002
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736 0.00002
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) rs767252128 0.00002
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly) rs764608837 0.00002
NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys) rs763047420 0.00002
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu) rs45514100 0.00002
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln) rs746197874 0.00002
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu) rs778069675 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.3815-3C>T rs770054036 0.00002
NM_000548.5(TSC2):c.4253C>T (p.Ser1418Leu) rs369164761 0.00002
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339 0.00002
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980 0.00002
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys) rs777166275 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.1099C>T (p.Arg367Trp) rs757844109 0.00001
NM_000548.5(TSC2):c.1186G>A (p.Asp396Asn) rs1596303501 0.00001
NM_000548.5(TSC2):c.1257+20G>A rs1436234038 0.00001
NM_000548.5(TSC2):c.1273A>T (p.Asn425Tyr) rs1186443300 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1423A>G (p.Ile475Val) rs1196710568 0.00001
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala) rs760205499 0.00001
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala) rs772617064 0.00001
NM_000548.5(TSC2):c.1562C>G (p.Thr521Arg) rs1378972928 0.00001
NM_000548.5(TSC2):c.1610G>A (p.Arg537His) rs372681603 0.00001
NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe) rs201334685 0.00001
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596 0.00001
NM_000548.5(TSC2):c.1676A>T (p.Asp559Val) rs767619776 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys) rs1430159201 0.00001
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile) rs773304374 0.00001
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val) rs763863196 0.00001
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly) rs910068556 0.00001
NM_000548.5(TSC2):c.1946+5G>A rs766646261 0.00001
NM_000548.5(TSC2):c.1952C>T (p.Pro651Leu) rs1300730043 0.00001
NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser) rs1262368552 0.00001
NM_000548.5(TSC2):c.2050G>A (p.Val684Met) rs779275341 0.00001
NM_000548.5(TSC2):c.2097+5G>C rs977777731 0.00001
NM_000548.5(TSC2):c.2219T>C (p.Met740Thr) rs757347786 0.00001
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr) rs758234726 0.00001
NM_000548.5(TSC2):c.2297T>C (p.Val766Ala) rs780682938 0.00001
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr) rs777459404 0.00001
NM_000548.5(TSC2):c.2330A>G (p.His777Arg) rs759528809 0.00001
NM_000548.5(TSC2):c.2357G>A (p.Arg786His) rs796053511 0.00001
NM_000548.5(TSC2):c.2366T>C (p.Val789Ala) rs748669016 0.00001
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys) rs1366556255 0.00001
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) rs781713438 0.00001
NM_000548.5(TSC2):c.2561C>T (p.Pro854Leu) rs1180511535 0.00001
NM_000548.5(TSC2):c.257C>T (p.Ala86Val) rs1369594860 0.00001
NM_000548.5(TSC2):c.2592G>C (p.Gln864His) rs763099064 0.00001
NM_000548.5(TSC2):c.2719G>T (p.Asp907Tyr) rs1287273870 0.00001
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) rs774758044 0.00001
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser) rs780057014 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.281C>T (p.Pro94Leu) rs200045926 0.00001
NM_000548.5(TSC2):c.2821A>G (p.Asn941Asp) rs878854087 0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu) rs370415754 0.00001
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys) rs780981335 0.00001
NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys) rs768241596 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2954A>G (p.His985Arg) rs1330306605 0.00001
NM_000548.5(TSC2):c.301G>A (p.Val101Met) rs878854089 0.00001
NM_000548.5(TSC2):c.3054C>T (p.Leu1018=) rs762570079 0.00001
NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val) rs2089807202 0.00001
NM_000548.5(TSC2):c.3328G>C (p.Ala1110Pro) rs1260370117 0.00001
NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp) rs747420910 0.00001
NM_000548.5(TSC2):c.3386G>A (p.Arg1129His) rs1412967226 0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244 0.00001
NM_000548.5(TSC2):c.3395C>T (p.Ser1132Leu) rs137854074 0.00001
NM_000548.5(TSC2):c.3454A>C (p.Ser1152Arg) rs772215032 0.00001
NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala) rs759350468 0.00001
NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser) rs895935495 0.00001
NM_000548.5(TSC2):c.352G>T (p.Val118Phe) rs878854094 0.00001
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu) rs45517297 0.00001
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys) rs45483391 0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu) rs751708490 0.00001
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser) rs1233661099 0.00001
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu) rs1057523452 0.00001
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser) rs757010959 0.00001
NM_000548.5(TSC2):c.3815-1G>A rs2090256621 0.00001
NM_000548.5(TSC2):c.3816G>A (p.Val1272=) rs45517314 0.00001
NM_000548.5(TSC2):c.381C>G (p.Ile127Met) rs2085502591 0.00001
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val) rs1060500928 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.4257G>C (p.Gln1419His) rs1403321543 0.00001
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr) rs764533757 0.00001
NM_000548.5(TSC2):c.4372C>A (p.Pro1458Thr) rs1189784704 0.00001
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser) rs1029118280 0.00001
NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr) rs1173459869 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.4639G>A (p.Val1547Ile) rs745895675 0.00001
NM_000548.5(TSC2):c.4697A>G (p.His1566Arg) rs1448001502 0.00001
NM_000548.5(TSC2):c.4824C>T (p.Tyr1608=) rs1422829075 0.00001
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys) rs1555438551 0.00001
NM_000548.5(TSC2):c.4961G>T (p.Gly1654Val) rs1555438692 0.00001
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu) rs757221445 0.00001
NM_000548.5(TSC2):c.5021C>T (p.Thr1674Ile) rs1555439727 0.00001
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn) rs1163037065 0.00001
NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr) rs150558493 0.00001
NM_000548.5(TSC2):c.5069-11A>G rs562381623 0.00001
NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr) rs758246234 0.00001
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500 0.00001
NM_000548.5(TSC2):c.5191A>G (p.Asn1731Asp) rs1555440500 0.00001
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) rs140526185 0.00001
NM_000548.5(TSC2):c.5238C>T (p.His1746=) rs1060504084 0.00001
NM_000548.5(TSC2):c.5245C>T (p.Arg1749Trp) rs1193817827 0.00001
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802 0.00001
NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp) rs1473538868 0.00001
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) rs374410454 0.00001
NM_000548.5(TSC2):c.643A>G (p.Ile215Val) rs1293515155 0.00001
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser) rs1555498800 0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser) rs762104739 0.00001
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln) rs45502703 0.00001
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys) rs1305592691 0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NM_000548.5(TSC2):c.932C>G (p.Ser311Cys) rs1475672414 0.00001
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu) rs202082319 0.00001
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln) rs751490043 0.00001
NM_000548.5(TSC2):c.1024A>T (p.Ile342Phe) rs1060500913
NM_000548.5(TSC2):c.102A>C (p.Lys34Asn)
NM_000548.5(TSC2):c.1034T>G (p.Leu345Arg) rs45451295
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys) rs1567423240
NM_000548.5(TSC2):c.1094T>C (p.Ile365Thr)
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.1133C>G (p.Pro378Arg) rs45517154
NM_000548.5(TSC2):c.1172_1174del (p.Val391del) rs1567428371
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys) rs773920155
NM_000548.5(TSC2):c.1202A>G (p.His401Arg) rs2086691569
NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp) rs771561593
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val) rs777172185
NM_000548.5(TSC2):c.1214A>T (p.Glu405Val) rs1057518321
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys) rs2086693907
NM_000548.5(TSC2):c.1229T>C (p.Leu410Pro) rs137854298
NM_000548.5(TSC2):c.1240T>A (p.Cys414Ser) rs1057523509
NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu) rs1237876686
NM_000548.5(TSC2):c.1265C>T (p.Ser422Phe) rs2151163315
NM_000548.5(TSC2):c.1275C>T (p.Asn425=) rs878854076
NM_000548.5(TSC2):c.1298C>T (p.Ser433Phe) rs397515187
NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln) rs796053485
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.1310C>T (p.Ala437Val)
NM_000548.5(TSC2):c.1316A>G (p.Asp439Gly)
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.132A>G (p.Ile44Met) rs796053508
NM_000548.5(TSC2):c.1332C>A (p.Asn444Lys)
NM_000548.5(TSC2):c.1346T>A (p.Met449Lys) rs1057520875
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu) rs769147552
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1381G>A (p.Val461Met) rs796053486
NM_000548.5(TSC2):c.1382T>C (p.Val461Ala) rs2086823656
NM_000548.5(TSC2):c.1384C>G (p.Arg462Gly) rs397515261
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.1418T>C (p.Leu473Pro) rs2086830486
NM_000548.5(TSC2):c.1419G>T (p.Leu473=)
NM_000548.5(TSC2):c.1433A>G (p.Gln478Arg) rs1555501733
NM_000548.5(TSC2):c.1443+4_1443+5delinsGT
NM_000548.5(TSC2):c.1444G>C (p.Glu482Gln) rs1308965961
NM_000548.5(TSC2):c.1470C>A (p.Ile490=) rs753344988
NM_000548.5(TSC2):c.1477C>T (p.Leu493Phe) rs45517177
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.149T>C (p.Met50Thr) rs1060500955
NM_000548.5(TSC2):c.1502A>T (p.Asp501Val) rs2151189595
NM_000548.5(TSC2):c.1526C>G (p.Thr509Ser) rs2151190252
NM_000548.5(TSC2):c.1564CAC[1] (p.His523del) rs2087028639
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys) rs149222396
NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln) rs149222396
NM_000548.5(TSC2):c.1600-11T>G rs2151205759
NM_000548.5(TSC2):c.1621C>T (p.Pro541Ser) rs1596317209
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu) rs764191178
NM_000548.5(TSC2):c.1646A>G (p.Asp549Gly) rs1170792905
NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr) rs1555503254
NM_000548.5(TSC2):c.1721A>G (p.Lys574Arg) rs1060500926
NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala) rs1204749633
NM_000548.5(TSC2):c.1743C>G (p.Ser581Arg)
NM_000548.5(TSC2):c.1763A>G (p.Glu588Gly)
NM_000548.5(TSC2):c.1766T>A (p.Met589Lys) rs796053487
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg) rs45517202
NM_000548.5(TSC2):c.1813C>T (p.Pro605Ser) rs1295352648
NM_000548.5(TSC2):c.1816A>T (p.Ile606Phe)
NM_000548.5(TSC2):c.1818C>G (p.Ile606Met) rs547389841
NM_000548.5(TSC2):c.1825A>G (p.Ser609Gly) rs2151281861
NM_000548.5(TSC2):c.1838A>G (p.Gln613Arg) rs2151282389
NM_000548.5(TSC2):c.1862T>C (p.Leu621Pro) rs397514927
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala) rs2151296839
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly) rs45437797
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.1925C>A (p.Pro642His) rs1408228669
NM_000548.5(TSC2):c.1933G>C (p.Val645Leu) rs746677177
NM_000548.5(TSC2):c.1933G>T (p.Val645Phe) rs746677177
NM_000548.5(TSC2):c.1940A>C (p.Asp647Ala) rs2151299187
NM_000548.5(TSC2):c.1971G>C (p.Lys657Asn) rs1596344117
NM_000548.5(TSC2):c.1981G>C (p.Gly661Arg) rs137854168
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val) rs137854103
NM_000548.5(TSC2):c.2014C>G (p.Pro672Ala) rs1262368552
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu) rs756536921
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg) rs959165669
NM_000548.5(TSC2):c.2062C>G (p.Leu688Val)
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly) rs760489473
NM_000548.5(TSC2):c.2090T>C (p.Leu697Ser) rs2088487335
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe) rs2151308956
NM_000548.5(TSC2):c.2092A>G (p.Lys698Glu) rs796053510
NM_000548.5(TSC2):c.2097+5G>A rs977777731
NM_000548.5(TSC2):c.2097G>C (p.Gln699His) rs2151309145
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro) rs876659689
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser) rs182538665
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys) rs182538665
NM_000548.5(TSC2):c.2191G>T (p.Asp731Tyr)
NM_000548.5(TSC2):c.2221-8G>A rs768919244
NM_000548.5(TSC2):c.2244G>T (p.Glu748Asp) rs2151326551
NM_000548.5(TSC2):c.225+2T>C rs397515105
NM_000548.5(TSC2):c.2264_2265delinsGC (p.Glu755Gly)
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met) rs777614710
NM_000548.5(TSC2):c.2336A>G (p.Tyr779Cys) rs752656474
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2359G>A (p.Glu787Lys) rs45517231
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys) rs1555507478
NM_000548.5(TSC2):c.2424G>T (p.Leu808Phe) rs796053489
NM_000548.5(TSC2):c.2443A>T (p.Met815Leu)
NM_000548.5(TSC2):c.2455A>G (p.Ile819Val) rs1426302691
NM_000548.5(TSC2):c.2460C>T (p.Ile820=) rs2151352359
NM_000548.5(TSC2):c.2486A>C (p.Lys829Thr) rs1555507617
NM_000548.5(TSC2):c.2487G>C (p.Lys829Asn) rs749431392
NM_000548.5(TSC2):c.2567T>A (p.Leu856His) rs2151380235
NM_000548.5(TSC2):c.2618T>C (p.Leu873Pro) rs2151381717
NM_000548.5(TSC2):c.264G>A (p.Leu88=) rs1466279830
NM_000548.5(TSC2):c.2656G>C (p.Val886Leu) rs999523698
NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr) rs796053491
NM_000548.5(TSC2):c.2720A>G (p.Asp907Gly) rs2151388705
NM_000548.5(TSC2):c.2721T>A (p.Asp907Glu) rs2089328474
NM_000548.5(TSC2):c.2772TGA[3] (p.Asp926_Thr927insAsp)
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp) rs1060500935
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2838-3T>G rs553942147
NM_000548.5(TSC2):c.2840T>C (p.Leu947Pro) rs1555509447
NM_000548.5(TSC2):c.2855C>A (p.Pro952His)
NM_000548.5(TSC2):c.2877C>T (p.Asn959=) rs147523833
NM_000548.5(TSC2):c.2892_2895del (p.Lys964fs) rs1555509491
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del) rs1460562160
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro) rs779832805
NM_000548.5(TSC2):c.2930G>A (p.Cys977Tyr) rs2089593473
NM_000548.5(TSC2):c.2933G>A (p.Arg978His) rs876660733
NM_000548.5(TSC2):c.2966+15G>A rs779884344
NM_000548.5(TSC2):c.2968A>T (p.Arg990Trp) rs753730009
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) rs1440361406
NM_000548.5(TSC2):c.2T>C (p.Met1Thr) rs2084667702
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr) rs1555510234
NM_000548.5(TSC2):c.3020C>G (p.Ser1007Cys) rs2151431750
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His) rs776658284
NM_000548.5(TSC2):c.3043C>G (p.Leu1015Val) rs2151432458
NM_000548.5(TSC2):c.3052C>T (p.Leu1018Phe) rs1034696882
NM_000548.5(TSC2):c.3059T>C (p.Leu1020Pro) rs2089798643
NM_000548.5(TSC2):c.3086T>C (p.Met1029Thr) rs1057522974
NM_000548.5(TSC2):c.3102C>T (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3103T>C (p.Phe1035Leu) rs2151434349
NM_000548.5(TSC2):c.3106T>G (p.Ser1036Ala) rs45517281
NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu) rs745731000
NM_000548.5(TSC2):c.3176C>G (p.Thr1059Ser) rs753205147
NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys) rs201670791
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile) rs45498892
NM_000548.5(TSC2):c.3229_3258dup (p.Thr1077_Gly1086dup) rs1567498463
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro) rs1060500936
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser) rs796053493
NM_000548.5(TSC2):c.3278A>G (p.Glu1093Gly) rs796053494
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) rs775584262
NM_000548.5(TSC2):c.3311A>C (p.Gln1104Pro) rs869144637
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile) rs946381749
NM_000548.5(TSC2):c.3319_3320delinsAT (p.Glu1107Met) rs1596385905
NM_000548.5(TSC2):c.3325C>G (p.Pro1109Ala) rs1555510880
NM_000548.5(TSC2):c.3325C>T (p.Pro1109Ser)
NM_000548.5(TSC2):c.3356A>G (p.Gln1119Arg) rs1567500641
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro) rs369536711
NM_000548.5(TSC2):c.3389C>T (p.Ser1130Phe) rs1163066622
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro) rs764529584
NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly) rs772215032
NM_000548.5(TSC2):c.3457G>A (p.Ala1153Thr) rs1352230225
NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu) rs144126969
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr) rs773900333
NM_000548.5(TSC2):c.3505G>T (p.Ala1169Ser) rs773900333
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser) rs137854421
NM_000548.5(TSC2):c.355C>T (p.Leu119Phe) rs1596264734
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.5(TSC2):c.3611-11C>A rs375617364
NM_000548.5(TSC2):c.3611-11C>G rs375617364
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del) rs1342475885
NM_000548.5(TSC2):c.3729G>C (p.Glu1243Asp) rs2151483009
NM_000548.5(TSC2):c.3733C>G (p.Arg1245Gly) rs777489742
NM_000548.5(TSC2):c.3745C>T (p.Leu1249=) rs1596400436
NM_000548.5(TSC2):c.3767C>T (p.Pro1256Leu) rs1596400594
NM_000548.5(TSC2):c.3772G>C (p.Ala1258Pro) rs2090168528
NM_000548.5(TSC2):c.3782_3814dup (p.Thr1271_Val1272insAlaLysProProProLeuProArgSerAsnThr)
NM_000548.5(TSC2):c.3793C>G (p.Pro1265Ala) rs45517311
NM_000548.5(TSC2):c.3815-8C>G rs1596404187
NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr) rs1596404280
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs) rs1555512845
NM_000548.5(TSC2):c.3821_3833del (p.Ser1274fs) rs1064794126
NM_000548.5(TSC2):c.3825C>G (p.Phe1275Leu)
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=) rs891262541
NM_000548.5(TSC2):c.3860T>C (p.Leu1287Pro)
NM_000548.5(TSC2):c.3874del (p.Ser1292fs) rs2151493492
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe) rs796053497
NM_000548.5(TSC2):c.3883+1G>T
NM_000548.5(TSC2):c.3883+2T>G rs2090269194
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe) rs1027773484
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) rs371239156
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His) rs770396146
NM_000548.5(TSC2):c.3994G>C (p.Ala1332Pro) rs1555513574
NM_000548.5(TSC2):c.4005+4_4005+7dup rs796053519
NM_000548.5(TSC2):c.4006-6T>C rs1060500953
NM_000548.5(TSC2):c.4006-7T>G rs2151520224
NM_000548.5(TSC2):c.4013C>T (p.Ser1338Leu) rs2151520475
NM_000548.5(TSC2):c.4061G>A (p.Gly1354Asp) rs878854102
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val) rs747104864
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu) rs1555513920
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.5(TSC2):c.4081C>G (p.Arg1361Gly) rs560831385
NM_000548.5(TSC2):c.4087G>T (p.Val1363Phe) rs751203255
NM_000548.5(TSC2):c.4089CTC[1] (p.Ser1365del) rs755101865
NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe) rs145476528
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys) rs1173061992
NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys) rs137854045
NM_000548.5(TSC2):c.413A>G (p.Glu138Gly) rs2151042580
NM_000548.5(TSC2):c.4196G>T (p.Gly1399Val)
NM_000548.5(TSC2):c.419T>C (p.Leu140Pro) rs2151042793
NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala) rs778147657
NM_000548.5(TSC2):c.4270G>C (p.Asp1424His) rs1216613310
NM_000548.5(TSC2):c.4271A>G (p.Asp1424Gly) rs876659933
NM_000548.5(TSC2):c.4273G>C (p.Gly1425Arg) rs763497329
NM_000548.5(TSC2):c.4298C>G (p.Ser1433Trp) rs45517335
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.431A>T (p.Lys144Met)
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His) rs45517338
NM_000548.5(TSC2):c.4372C>T (p.Pro1458Ser) rs1189784704
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=) rs2090534289
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile) rs1202676769
NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met) rs1030218603
NM_000548.5(TSC2):c.4520C>T (p.Ser1507Phe) rs746246149
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu) rs775919951
NM_000548.5(TSC2):c.4546A>G (p.Lys1516Glu) rs1596422969
NM_000548.5(TSC2):c.4549C>G (p.Pro1517Ala) rs1057522800
NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg) rs1279603512
NM_000548.5(TSC2):c.4570-13C>G rs370549253
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) rs45517352
NM_000548.5(TSC2):c.4582G>C (p.Glu1528Gln) rs2090622255
NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln) rs753060862
NM_000548.5(TSC2):c.4635C>G (p.Ile1545Met) rs757388437
NM_000548.5(TSC2):c.4655_4656delinsGC (p.Glu1552Gly) rs2151553737
NM_000548.5(TSC2):c.4658G>A (p.Gly1553Asp) rs2090634038
NM_000548.5(TSC2):c.4659C>T (p.Gly1553=) rs202212109
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg) rs151140709
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys) rs397514980
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser) rs796053499
NM_000548.5(TSC2):c.4729G>T (p.Gly1577Cys)
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu) rs772687631
NM_000548.5(TSC2):c.4834G>T (p.Asp1612Tyr) rs886051795
NM_000548.5(TSC2):c.4838A>C (p.Asp1613Ala)
NM_000548.5(TSC2):c.4845G>A (p.Met1615Ile) rs2090790316
NM_000548.5(TSC2):c.4849+2T>C
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val) rs1555516628
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys) rs760457821
NM_000548.5(TSC2):c.4916G>A (p.Arg1639His) rs137854153
NM_000548.5(TSC2):c.4951A>G (p.Asn1651Asp) rs2090865014
NM_000548.5(TSC2):c.5011G>T (p.Val1671Leu)
NM_000548.5(TSC2):c.5024C>G (p.Pro1675Arg) rs45483392
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu) rs1596455392
NM_000548.5(TSC2):c.5064G>C (p.Arg1688Ser) rs374476631
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
NM_000548.5(TSC2):c.5101A>G (p.Lys1701Glu) rs2151620842
NM_000548.5(TSC2):c.5106C>G (p.Ile1702Met) rs45483700
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu) rs1385591764
NM_000548.5(TSC2):c.5147C>T (p.Ala1716Val) rs1420725409
NM_000548.5(TSC2):c.5159A>C (p.Asn1720Thr) rs796053500
NM_000548.5(TSC2):c.5160+6T>G rs1567130441
NM_000548.5(TSC2):c.5160+6_5160+27del rs1555440243
NM_000548.5(TSC2):c.5161-15_5161-3del rs1555440326
NM_000548.5(TSC2):c.5171A>C (p.Gln1724Pro) rs923367492
NM_000548.5(TSC2):c.5177A>T (p.His1726Leu)
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro) rs1596460327
NM_000548.5(TSC2):c.5200_5202delinsAAC (p.Asp1734Asn) rs1596460422
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val) rs878854117
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser) rs137854219
NM_000548.5(TSC2):c.5238C>A (p.His1746Gln) rs1060504084
NM_000548.5(TSC2):c.5243A>G (p.Lys1748Arg) rs753424501
NM_000548.5(TSC2):c.5260-2A>C rs1374323400
NM_000548.5(TSC2):c.5260-9_5279del rs967037646
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser) rs762320484
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro) rs1555441169
NM_000548.5(TSC2):c.5293C>T (p.Leu1765=) rs1060500954
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu) rs748936673
NM_000548.5(TSC2):c.5302G>A (p.Val1768Met) rs2151639120
NM_000548.5(TSC2):c.5315C>G (p.Ser1772Cys)
NM_000548.5(TSC2):c.5327C>T (p.Ala1776Val)
NM_000548.5(TSC2):c.5329C>G (p.Pro1777Ala) rs781226141
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val) rs755900742
NM_000548.5(TSC2):c.5356C>T (p.Pro1786Ser) rs371543182
NM_000548.5(TSC2):c.5358del (p.Gly1787fs) rs2151641235
NM_000548.5(TSC2):c.535G>T (p.Val179Leu)
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del) rs796053480
NM_000548.5(TSC2):c.5395_5397del (p.Ser1799del) rs2151642647
NM_000548.5(TSC2):c.543_551del (p.Asn182_Val184del)
NM_000548.5(TSC2):c.585C>G (p.Ile195Met) rs397515309
NM_000548.5(TSC2):c.680_682del (p.Cys227del) rs2151078439
NM_000548.5(TSC2):c.704G>C (p.Ser235Thr) rs397514957
NM_000548.5(TSC2):c.716T>C (p.Phe239Ser) rs778544723
NM_000548.5(TSC2):c.717C>G (p.Phe239Leu) rs1567408727
NM_000548.5(TSC2):c.721G>C (p.Val241Leu) rs200943828
NM_000548.5(TSC2):c.727C>T (p.Leu243Phe) rs796053502
NM_000548.5(TSC2):c.743A>C (p.Asn248Thr)
NM_000548.5(TSC2):c.775-3C>G rs397514909
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu) rs1555494636
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly) rs45517130
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser) rs373818076
NM_000548.5(TSC2):c.826A>G (p.Met276Val) rs1238874343
NM_000548.5(TSC2):c.849-13G>A rs886051787
NM_000548.5(TSC2):c.911G>T (p.Trp304Leu)
NM_000548.5(TSC2):c.919C>T (p.His307Tyr) rs1279645051
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe) rs1258567486
NM_000548.5(TSC2):c.926T>C (p.Leu309Pro) rs75348431
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu) rs751490043
NM_000548.5(TSC2):c.950C>T (p.Thr317Ile) rs1596289105
NM_000548.5(TSC2):c.96G>A (p.Glu32=) rs1567380772
NM_000548.5(TSC2):c.995A>G (p.Glu332Gly)

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