ClinVar Miner

List of variants in gene TSC2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 590
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HGVS dbSNP
NC_000016.10:g.2053485G>T
NC_000016.10:g.2053685T>C
NC_000016.10:g.2056112C>T
NC_000016.10:g.2060607G>A
NC_000016.10:g.2061778T>C
NC_000016.10:g.2065480C>T
NC_000016.10:g.2070401T>C
NC_000016.10:g.2070426G>A
NC_000016.10:g.2071977A>G
NC_000016.10:g.2072236C>G
NC_000016.10:g.2072388G>C
NC_000016.10:g.2072821A>G
NC_000016.10:g.2074196G>A
NC_000016.10:g.2074420C>T
NC_000016.10:g.2075789A>G
NC_000016.10:g.2076176C>T
NC_000016.10:g.2076589C>T
NC_000016.10:g.2082582G>A
NC_000016.10:g.2085072C>T
NC_000016.10:g.2086383C>T
NC_000016.10:g.2086476del
NC_000016.10:g.2086623T>C
NC_000016.10:g.2086724A>G
NC_000016.10:g.2088397C>T
NC_000016.10:g.2088421C>G
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.5160+2_5160+3delTG rs137854036
NM_000548.3(TSC2):c.5161-15_5161-3delTGCCTACGTCCCC rs1555440326
NM_000548.4(TSC2):c.1119+6_1119+28del rs1358834036
NM_000548.4(TSC2):c.1600_1716del (p.Val534_Gln572del) rs137854159
NM_000548.4(TSC2):c.3401delG (p.Gly1134Alafs) rs137854314
NM_000548.4(TSC2):c.4006-1_4007del rs1567520255
NM_000548.4(TSC2):c.4495_4499delTTCGT (p.Phe1499Valfs) rs886041905
NM_000548.4(TSC2):c.4572_4577dup (p.Ser1526_Phe1527insGlnSer) rs773676752
NM_000548.4(TSC2):c.4662+2_4662+6delTGAGG rs796053520
NM_000548.5(TSC2):c.-30+134C>T
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.-30+1G>T rs587778004
NM_000548.5(TSC2):c.-30+25_-30+45del
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter) rs45469896
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val) rs370403197
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1096_1116del (p.Glu366_Leu372del) rs1085307591
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1101G>C (p.Arg367=) rs45517149
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) rs45469099
NM_000548.5(TSC2):c.1119+233C>T
NM_000548.5(TSC2):c.1119G>C (p.Gln373His) rs1057523727
NM_000548.5(TSC2):c.1120-17C>T rs201704675
NM_000548.5(TSC2):c.1120-93T>C rs17135764
NM_000548.5(TSC2):c.1122C>G (p.Thr374=) rs1555500988
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154
NM_000548.5(TSC2):c.1134G>A (p.Pro378=) rs754343186
NM_000548.5(TSC2):c.113_114dup (p.Ile39fs) rs137854355
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)
NM_000548.5(TSC2):c.1194del (p.Asn398fs) rs886039736
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) rs773920155
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val) rs777172185
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly) rs1057523509
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223
NM_000548.5(TSC2):c.1257+20G>A rs1436234038
NM_000548.5(TSC2):c.1257+2T>G rs45509697
NM_000548.5(TSC2):c.1258-10C>G rs794727093
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) rs796053484
NM_000548.5(TSC2):c.126G>A (p.Ala42=) rs886043548
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1287T>A (p.Tyr429Ter) rs45493394
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1298C>T (p.Ser433Phe) rs397515187
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.1308G>T (p.Pro436=) rs753764275
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.131_132del (p.Ile44fs) rs1064793853
NM_000548.5(TSC2):c.132A>G (p.Ile44Met) rs796053508
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.5(TSC2):c.1346T>A (p.Met449Lys) rs1057520875
NM_000548.5(TSC2):c.134_138+1delinsC rs1057518535
NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys)
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.138+211T>C
NM_000548.5(TSC2):c.138+2T>C rs137854226
NM_000548.5(TSC2):c.1381G>A (p.Val461Met) rs796053486
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) rs45481199
NM_000548.5(TSC2):c.139G>T (p.Glu47Ter) rs1555495676
NM_000548.5(TSC2):c.1443+255C>T
NM_000548.5(TSC2):c.1443+256G>A
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1443+5G>C rs1057521562
NM_000548.5(TSC2):c.1444-151C>T
NM_000548.5(TSC2):c.1444-201G>A
NM_000548.5(TSC2):c.1444-232C>T
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
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.148A>G (p.Met50Val) rs140618379
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1534C>G (p.Leu512Val) rs772834557
NM_000548.5(TSC2):c.1535_1557del (p.Leu512fs) rs796053503
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1563dup (p.His522fs) rs137854023
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1585G>T (p.Asp529Tyr) rs1567438280
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys) rs149222396
NM_000548.5(TSC2):c.1600-310C>T
NM_000548.5(TSC2):c.1600-9T>C rs886043268
NM_000548.5(TSC2):c.1610G>A (p.Arg537His) rs372681603
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.5(TSC2):c.1716+183A>G
NM_000548.5(TSC2):c.1716+82T>C
NM_000548.5(TSC2):c.1717-12CT[2] rs769094940
NM_000548.5(TSC2):c.1724T>C (p.Leu575Pro) rs1567456901
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1761T>G (p.Tyr587Ter) rs753179817
NM_000548.5(TSC2):c.1766T>A (p.Met589Lys) rs796053487
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg) rs45517202
NM_000548.5(TSC2):c.1806C>G (p.Tyr602Ter) rs367553206
NM_000548.5(TSC2):c.1818C>T (p.Ile606=) rs547389841
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1839+1G>T rs45438400
NM_000548.5(TSC2):c.1839+248C>T
NM_000548.5(TSC2):c.1839+269G>A
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA rs1555505742
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs) rs397515073
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter) rs368710573
NM_000548.5(TSC2):c.1938C>A (p.Cys646Ter) rs745414854
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.1946+1G>A rs397514994
NM_000548.5(TSC2):c.1946+1G>T rs397514994
NM_000548.5(TSC2):c.1946+2T>A rs397515247
NM_000548.5(TSC2):c.1947-9C>T rs747475590
NM_000548.5(TSC2):c.1954G>T (p.Glu652Ter) rs1555505954
NM_000548.5(TSC2):c.1957A>T (p.Arg653Ter) rs764225717
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn) rs754504918
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) rs794727221
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2034C>T (p.Ala678=) rs781740263
NM_000548.5(TSC2):c.2050G>A (p.Val684Met) rs779275341
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg) rs959165669
NM_000548.5(TSC2):c.2065_2066CT[1] (p.Phe690fs) rs1064793524
NM_000548.5(TSC2):c.2071del (p.Arg691fs) rs137854071
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu) rs370553131
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2092A>G (p.Lys698Glu) rs796053510
NM_000548.5(TSC2):c.2097+48G>T
NM_000548.5(TSC2):c.2098-114A>G
NM_000548.5(TSC2):c.2098-12C>G
NM_000548.5(TSC2):c.2098-18C>T
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2105_2108del (p.Asp702fs) rs886041563
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2113del (p.Val705fs) rs1555506428
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.2193C>T (p.Asp731=) rs760053529
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.2218A>G (p.Met740Val)
NM_000548.5(TSC2):c.2220+182C>T
NM_000548.5(TSC2):c.2220+4C>G rs781186613
NM_000548.5(TSC2):c.2221-1G>A rs45517218
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.226-338C>T
NM_000548.5(TSC2):c.226-82C>T
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) rs886042145
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2355+153A>G
NM_000548.5(TSC2):c.2355+214G>T
NM_000548.5(TSC2):c.2356-176G>T
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) rs767252128
NM_000548.5(TSC2):c.2357G>A (p.Arg786His) rs796053511
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro) rs137854241
NM_000548.5(TSC2):c.2386_2457del (p.Leu796_Ile819del) rs1555507504
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2424G>T (p.Leu808Phe) rs796053489
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2479_2480delinsC (p.Val827fs) rs1555507612
NM_000548.5(TSC2):c.2486A>C (p.Lys829Thr) rs1555507617
NM_000548.5(TSC2):c.2491dup (p.Thr831fs) rs1555507623
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro) rs1057522911
NM_000548.5(TSC2):c.2529_2537del (p.Glu845_Leu847del) rs1567476034
NM_000548.5(TSC2):c.2545+157G>C
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) rs781713438
NM_000548.5(TSC2):c.2546-1G>A rs45468292
NM_000548.5(TSC2):c.2546-2A>G rs45517246
NM_000548.5(TSC2):c.2579_2580del (p.Phe860fs) rs886042032
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836
NM_000548.5(TSC2):c.2616C>T (p.Ser872=) rs779843919
NM_000548.5(TSC2):c.2639+1G>A rs45517252
NM_000548.5(TSC2):c.2640-1G>A rs397515203
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2640-65C>T
NM_000548.5(TSC2):c.2640-74G>A
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.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser) rs45517255
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.273G>A (p.Pro91=) rs772296140
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2743-9C>T rs397515319
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser) rs780057014
NM_000548.5(TSC2):c.2761_2762CT[3] (p.Leu922fs) rs1555508917
NM_000548.5(TSC2):c.2784C>G (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2823C>T (p.Asn941=) rs750806272
NM_000548.5(TSC2):c.2837+286T>G
NM_000548.5(TSC2):c.2838-16C>T
NM_000548.5(TSC2):c.2838-282A>C
NM_000548.5(TSC2):c.2838-372C>T
NM_000548.5(TSC2):c.2838-3T>G rs553942147
NM_000548.5(TSC2):c.2858_2859delinsAA (p.Pro953Gln) rs886044172
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.2870dup (p.Leu957fs) rs1567490680
NM_000548.5(TSC2):c.2892_2895del (p.Lys964fs) rs1555509491
NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys) rs768241596
NM_000548.5(TSC2):c.2933G>A (p.Arg978His) rs876660733
NM_000548.5(TSC2):c.2966+121C>G
NM_000548.5(TSC2):c.2966+15G>A rs779884344
NM_000548.5(TSC2):c.2966+217G>T
NM_000548.5(TSC2):c.2967-118T>C
NM_000548.5(TSC2):c.2967-185C>T
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3086T>C (p.Met1029Thr) rs1057522974
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg) rs1567496821
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter) rs137854015
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3106T>G (p.Ser1036Ala) rs45517281
NM_000548.5(TSC2):c.3131+1G>A rs45506401
NM_000548.5(TSC2):c.3131+2T>A rs397515036
NM_000548.5(TSC2):c.3137C>T (p.Pro1046Leu) rs1567497682
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492
NM_000548.5(TSC2):c.3164del (p.Gly1055fs) rs1555510519
NM_000548.5(TSC2):c.3176C>G (p.Thr1059Ser) rs753205147
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) rs796053509
NM_000548.5(TSC2):c.3182_3183insAACC (p.Val1062fs) rs1555510579
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys) rs201670791
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.3204_3205TG[1] (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile) rs45498892
NM_000548.5(TSC2):c.3212_3213del (p.Thr1071fs) rs1057518448
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.324C>T (p.Ile108=) rs973500815
NM_000548.5(TSC2):c.3259G>T (p.Glu1087Ter) rs1085307762
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889
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.3284+1G>A rs45517289
NM_000548.5(TSC2):c.3284G>T (p.Ser1095Ile) rs1555510754
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter) rs1064796511
NM_000548.5(TSC2):c.329del (p.Gln110fs) rs1567395826
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val) rs587781782
NM_000548.5(TSC2):c.3347C>T (p.Ala1116Val) rs878854092
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro) rs369536711
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969
NM_000548.5(TSC2):c.337-1G>A rs45517105
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) rs137854074
NM_000548.5(TSC2):c.3397+126C>T
NM_000548.5(TSC2):c.3397+15C>T rs202246408
NM_000548.5(TSC2):c.3397+5G>A rs45501492
NM_000548.5(TSC2):c.3398-140C>T
NM_000548.5(TSC2):c.3404del (p.His1135fs) rs1064793464
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3448del (p.Leu1150fs) rs1555511352
NM_000548.5(TSC2):c.3448dup (p.Leu1150fs) rs1555511352
NM_000548.5(TSC2):c.3452del (p.Gly1151fs) rs1131691419
NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala) rs759350468
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu) rs778069675
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp) rs529298825
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu) rs45517297
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys) rs45483391
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=) rs139313964
NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter) rs1567504592
NM_000548.5(TSC2):c.354C>G (p.Val118=) rs762228318
NM_000548.5(TSC2):c.3565del (p.Leu1189fs) rs137854121
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) rs146734084
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=) rs761232933
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) rs1131691602
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.5(TSC2):c.3610+168G>A
NM_000548.5(TSC2):c.3610+170A>C
NM_000548.5(TSC2):c.3610+214C>T
NM_000548.5(TSC2):c.3610+226C>T
NM_000548.5(TSC2):c.3610+266C>T
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter) rs796053496
NM_000548.5(TSC2):c.3653del (p.Pro1218fs) rs1057518201
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3727G>T (p.Glu1243Ter) rs1057520759
NM_000548.5(TSC2):c.3736del (p.Asp1246fs) rs796053516
NM_000548.5(TSC2):c.3738dup (p.Thr1247fs) rs796053506
NM_000548.5(TSC2):c.3739del (p.Thr1247fs) rs796053517
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met) rs776738338
NM_000548.5(TSC2):c.3783del (p.Lys1262fs) rs1555512548
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu) rs1057523452
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser) rs757010959
NM_000548.5(TSC2):c.3814+141C>T
NM_000548.5(TSC2):c.3815-155A>G
NM_000548.5(TSC2):c.3815-308T>C
NM_000548.5(TSC2):c.3815-3C>T rs770054036
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.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=) rs374146919
NM_000548.5(TSC2):c.3841_3853del (p.Ser1281fs) rs796053518
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3883+66G>A
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3884-68C>T
NM_000548.5(TSC2):c.3885C>T (p.Asp1295=) rs766771526
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3904G>T (p.Glu1302Ter) rs886039680
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.5(TSC2):c.3952G>T (p.Glu1318Ter) rs1064793797
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.3994G>C (p.Ala1332Pro) rs1555513574
NM_000548.5(TSC2):c.3G>T (p.Met1Ile)
NM_000548.5(TSC2):c.4006-1G>A rs1085307853
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=) rs1060504109
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val) rs747104864
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) rs45517327
NM_000548.5(TSC2):c.4099_4100insT (p.Gly1367fs) rs1064793573
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.412G>T (p.Glu138Ter) rs1173061992
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065
NM_000548.5(TSC2):c.4149dup (p.Lys1384fs) rs1555514063
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter) rs886041772
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val) rs1060500928
NM_000548.5(TSC2):c.4207del (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr) rs147719291
NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs) rs1555514179
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.5(TSC2):c.4223del (p.Gly1408fs) rs137854427
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=) rs1285012780
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4276dup (p.Glu1426fs) rs886041573
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.428del (p.Phe143fs) rs1057518508
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4316del (p.Gly1439fs) rs137853988
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=) rs779122170
NM_000548.5(TSC2):c.4364G>C (p.Gly1455Ala) rs1567524174
NM_000548.5(TSC2):c.4369del (p.Arg1457fs) rs1567524236
NM_000548.5(TSC2):c.4372C>A (p.Pro1458Thr) rs1189784704
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser) rs558737770
NM_000548.5(TSC2):c.4415del (p.Gly1472fs) rs794727573
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027
NM_000548.5(TSC2):c.4473del (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4493+1G>A rs1057518230
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4520C>T (p.Ser1507Phe) rs746246149
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4541C>G (p.Ser1514Ter) rs74363455
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4544del (p.Asn1515fs) rs886041789
NM_000548.5(TSC2):c.4546_4549del (p.Lys1516fs) rs886041643
NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr) rs1057522800
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter) rs1441428144
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp) rs199848388
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) rs886041919
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser) rs796053499
NM_000548.5(TSC2):c.4730del (p.Gly1577fs) rs397515173
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) rs751305758
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=) rs45511204
NM_000548.5(TSC2):c.478C>G (p.Leu160Val) rs45517109
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631
NM_000548.5(TSC2):c.482-114T>C
NM_000548.5(TSC2):c.482-1G>A rs137854306
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter) rs45517371
NM_000548.5(TSC2):c.4850-10T>A rs1238997365
NM_000548.5(TSC2):c.4854C>T (p.Val1618=) rs45517378
NM_000548.5(TSC2):c.4859A>T (p.His1620Leu) rs397515177
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs) rs137854050
NM_000548.5(TSC2):c.4881del (p.Lys1628fs) rs1064793646
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796
NM_000548.5(TSC2):c.4889_4989+135del rs137854272
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys) rs760457821
NM_000548.5(TSC2):c.4909_4911AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro) rs794727602
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His) rs45517379
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met) rs1064796970
NM_000548.5(TSC2):c.4938_4946del (p.Ser1647_Val1649del) rs1555438624
NM_000548.5(TSC2):c.493C>T (p.Leu165=) rs758521946
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) rs45517111
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.4989+107A>C
NM_000548.5(TSC2):c.4990-1G>A rs1555439650
NM_000548.5(TSC2):c.4990-7C>T rs45457095
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu) rs757221445
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter) rs1131691794
NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly) rs397515067
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5026C>G (p.Leu1676Val) rs201707249
NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs) rs1555439753
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr) rs150558493
NM_000548.5(TSC2):c.5042A>G (p.Asn1681Ser) rs1567128450
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5068+8C>T rs747827911
NM_000548.5(TSC2):c.5068+9G>A rs45445593
NM_000548.5(TSC2):c.5069-2A>C rs45487291
NM_000548.5(TSC2):c.5078del (p.Gly1693fs) rs1555440022
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) rs45474691
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg) rs45517393
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=) rs760978505
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395
NM_000548.5(TSC2):c.5138_5149del (p.Arg1713_Ala1716del) rs1064795156
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5159A>C (p.Asn1720Thr) rs796053500
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5160+1G>T rs45517399
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.5160+6_5160+27del rs1555440243
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val) rs45517407
NM_000548.5(TSC2):c.5169dup (p.Gln1724fs) rs1555440437
NM_000548.5(TSC2):c.5191A>G (p.Asn1731Asp) rs1555440500
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5203dup (p.Ile1735fs) rs886041940
NM_000548.5(TSC2):c.5208C>T (p.Tyr1736=) rs45517410
NM_000548.5(TSC2):c.5214del (p.Lys1739fs) rs397515139
NM_000548.5(TSC2):c.5217G>A (p.Lys1739=)
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter) rs137854219
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter) rs45517411
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) rs140526185
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe) rs1567132207
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=) rs772865175
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+2T>G rs1555440894
NM_000548.5(TSC2):c.5260-1G>C rs1057518103
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser) rs762320484
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318
NM_000548.5(TSC2):c.5262del (p.Cys1755fs) rs796053507
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp)
NM_000548.5(TSC2):c.5289del (p.Ser1764fs) rs1555441221
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg) rs45517418
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr) rs1245934608
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu) rs878854119
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys) rs777166275
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5389_5392dup (p.Ser1798fs) rs1085307666
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.5391_5393CTC[1] (p.Ser1799del) rs796053480
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu) rs200004126
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405
NM_000548.5(TSC2):c.573C>G (p.Leu191=) rs397515059
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292
NM_000548.5(TSC2):c.581dup (p.Tyr194Ter) rs1555498221
NM_000548.5(TSC2):c.599+241G>T
NM_000548.5(TSC2):c.599+327G>A
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314
NM_000548.5(TSC2):c.648+6T>C rs372007135
NM_000548.5(TSC2):c.649-12C>A
NM_000548.5(TSC2):c.649-1G>C rs794727906
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.5(TSC2):c.717C>G (p.Phe239Leu) rs1567408727
NM_000548.5(TSC2):c.727C>T (p.Leu243Phe) rs796053502
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg) rs137854101
NM_000548.5(TSC2):c.774+1G>A rs45517128
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu) rs1555494636
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp) rs45517130
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln) rs45502703
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro) rs45517131
NM_000548.5(TSC2):c.824dup (p.Asn275fs) rs886041922
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000548.5(TSC2):c.837C>T (p.Leu279=) rs746694709
NM_000548.5(TSC2):c.848+113A>G
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.848+276C>G
NM_000548.5(TSC2):c.848+2T>G rs1555499119
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.849-8A>G rs765336852
NM_000548.5(TSC2):c.855C>T (p.Tyr285=) rs794726983
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.890T>G (p.Phe297Cys) rs1567415441
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser) rs747310967
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp) rs201144475
NM_000548.5(TSC2):c.930T>A (p.Tyr310Ter) rs886041758
NM_000548.5(TSC2):c.945G>A (p.Ser315=) rs763948768
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe) rs1060500970
NM_000548.5(TSC2):c.976-100C>G
NM_000548.5(TSC2):c.976-10C>A rs765990217
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000548.5(TSC2):c.976-44G>A
NM_000548.5(TSC2):c.990G>A (p.Pro330=) rs752141469

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