ClinVar Miner

List of variants in gene TSC2 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 291
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166 0.00749
NM_000548.5(TSC2):c.1443+18C>T rs375947241 0.00379
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141 0.00379
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_000548.5(TSC2):c.2565C>T (p.His855=) rs143537386 0.00138
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999 0.00096
NM_000548.5(TSC2):c.2838-4A>G rs45517272 0.00084
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_000548.5(TSC2):c.2742+13C>T rs45517260 0.00065
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_000548.5(TSC2):c.1120-17C>T rs201704675 0.00026
NM_000548.5(TSC2):c.2837+11dup rs137854204 0.00022
NM_000548.5(TSC2):c.1443+15G>A rs182743311 0.00020
NM_000548.5(TSC2):c.4662+17G>A rs45443002 0.00019
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295 0.00016
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=) rs141252704 0.00016
NM_000548.5(TSC2):c.4493+17C>T rs45517345 0.00016
NM_000548.5(TSC2):c.649-9C>G rs781099543 0.00016
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602 0.00015
NM_000548.5(TSC2):c.1947-3C>T rs201106259 0.00014
NM_000548.5(TSC2):c.4493+16C>G rs45491597 0.00012
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 0.00011
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=) rs374146919 0.00011
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283 0.00011
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=) rs45455897 0.00010
NM_000548.5(TSC2):c.4006-19T>G rs200900825 0.00009
NM_000548.5(TSC2):c.481+12C>T rs777645015 0.00009
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu) rs45517188 0.00008
NM_000548.5(TSC2):c.3815-16C>T rs546810161 0.00008
NM_000548.5(TSC2):c.775-4G>A rs754957491 0.00008
NM_000548.5(TSC2):c.1131C>T (p.Ser377=) rs201525586 0.00007
NM_000548.5(TSC2):c.2220+12G>A rs780039835 0.00007
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=) rs760704956 0.00007
NM_000548.5(TSC2):c.4521C>T (p.Ser1507=) rs140081676 0.00007
NM_000548.5(TSC2):c.4851C>T (p.Ala1617=) rs556045045 0.00007
NM_000548.5(TSC2):c.5259+9T>C rs1057522018 0.00007
NM_000548.5(TSC2):c.1717-15G>T rs372949465 0.00006
NM_000548.5(TSC2):c.1731C>T (p.Thr577=) rs144122318 0.00006
NM_000548.5(TSC2):c.1946+15G>A rs752601710 0.00006
NM_000548.5(TSC2):c.2546-6C>T rs372088609 0.00006
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432 0.00006
NM_000548.5(TSC2):c.482-16G>A rs200647260 0.00006
NM_000548.5(TSC2):c.600-15C>T rs369708731 0.00006
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) rs373818076 0.00006
NM_000548.5(TSC2):c.1599+9C>T rs776274603 0.00005
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys) rs777089012 0.00005
NM_000548.5(TSC2):c.-82G>T rs1391750751 0.00004
NM_000548.5(TSC2):c.1245G>A (p.Ala415=) rs757325185 0.00004
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306 0.00004
NM_000548.5(TSC2):c.2967-6C>T rs200746335 0.00004
NM_000548.5(TSC2):c.3069G>A (p.Thr1023=) rs373950550 0.00004
NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg) rs944693159 0.00004
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=) rs779122170 0.00004
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=) rs528080018 0.00004
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=) rs758374702 0.00004
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=) rs370820622 0.00004
NM_000548.5(TSC2):c.585C>T (p.Ile195=) rs397515309 0.00004
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788 0.00004
NM_000548.5(TSC2):c.138+18G>A rs966402370 0.00003
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) rs768864353 0.00003
NM_000548.5(TSC2):c.201C>T (p.Val67=) rs45460096 0.00003
NM_000548.5(TSC2):c.2097+13G>A rs367915255 0.00003
NM_000548.5(TSC2):c.2837+12G>A rs755041349 0.00003
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=) rs45471697 0.00003
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=) rs1060504106 0.00003
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=) rs780955293 0.00003
NM_000548.5(TSC2):c.4663-14C>T rs397515174 0.00003
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103 0.00003
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559 0.00003
NM_000548.5(TSC2):c.627C>T (p.Thr209=) rs776293094 0.00003
NM_000548.5(TSC2):c.1113G>C (p.Gln371His) rs571767462 0.00002
NM_000548.5(TSC2):c.1119+6G>C rs397515305 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.2098-18C>T rs1246072517 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.3284+11C>A rs769334480 0.00002
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln) rs746197874 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.3957C>T (p.Asp1319=) rs757244510 0.00002
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=) rs911307922 0.00002
NM_000548.5(TSC2):c.5161-8G>A rs374674097 0.00002
NM_000548.5(TSC2):c.5193C>T (p.Asn1731=) rs753336580 0.00002
NM_000548.5(TSC2):c.5260-12C>T rs769264472 0.00002
NM_000548.5(TSC2):c.5415G>A (p.Glu1805=) rs982803529 0.00002
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405 0.00002
NM_000548.5(TSC2):c.976-16C>T rs773016098 0.00002
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146 0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419 0.00001
NM_000548.5(TSC2):c.1361+20C>G rs538626543 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1443+19G>A rs1219381067 0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762 0.00001
NM_000548.5(TSC2):c.1662G>A (p.Ser554=) rs775617895 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_000548.5(TSC2):c.1717-14T>C rs780658386 0.00001
NM_000548.5(TSC2):c.1717-16C>T rs45517191 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.2035G>A (p.Val679Met) rs746315218 0.00001
NM_000548.5(TSC2):c.2042T>C (p.Leu681Pro) rs878854079 0.00001
NM_000548.5(TSC2):c.2046G>A (p.Gly682=) rs749536123 0.00001
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=) rs1186913814 0.00001
NM_000548.5(TSC2):c.225+12C>A rs886038352 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.2466G>A (p.Ala822=) rs141728350 0.00001
NM_000548.5(TSC2):c.2515A>G (p.Met839Val) rs876660457 0.00001
NM_000548.5(TSC2):c.2778C>T (p.Asp926=) rs776069297 0.00001
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn) rs144329595 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.3253T>C (p.Ser1085Pro) rs767655384 0.00001
NM_000548.5(TSC2):c.336+10A>G rs587778005 0.00001
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr) rs763122999 0.00001
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=) rs139313964 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=) rs773240506 0.00001
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=) rs754945653 0.00001
NM_000548.5(TSC2):c.3732C>T (p.His1244=) rs1264194267 0.00001
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=) rs199742312 0.00001
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser) rs1233661099 0.00001
NM_000548.5(TSC2):c.3814+10A>G rs200309006 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.4458C>T (p.Ala1486=) rs761248238 0.00001
NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys) rs766916450 0.00001
NM_000548.5(TSC2):c.4494-12C>T rs780056359 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.4677C>T (p.Leu1559=) rs45517361 0.00001
NM_000548.5(TSC2):c.4740G>T (p.Arg1580=) rs930171871 0.00001
NM_000548.5(TSC2):c.4850-12G>A rs371810493 0.00001
NM_000548.5(TSC2):c.4850-18G>A rs902020009 0.00001
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys) rs1555438551 0.00001
NM_000548.5(TSC2):c.5031C>T (p.Asp1677=) rs878854113 0.00001
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=) rs876658185 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val) rs1373235682 0.00001
NM_000548.5(TSC2):c.5400G>C (p.Val1800=) rs777327091 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000548.5(TSC2):c.648+17C>A rs755431618 0.00001
NM_000548.5(TSC2):c.693G>A (p.Leu231=) rs764417359 0.00001
NM_000548.5(TSC2):c.848+10G>A rs1405925936 0.00001
NM_000548.5(TSC2):c.997G>T (p.Val333Leu) rs1336741146 0.00001
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln) rs45517148
NM_000548.5(TSC2):c.1119+11G>C rs1026151983
NM_000548.5(TSC2):c.1119+12dup rs750078037
NM_000548.5(TSC2):c.1258-4A>G rs2086763634
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.1341G>T (p.Ala447=) rs141609319
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu) rs2151173141
NM_000548.5(TSC2):c.1443+9C>G rs2151173612
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1561A>G (p.Thr521Ala) rs1279109316
NM_000548.5(TSC2):c.1599+16C>A rs45517181
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val) rs1465307943
NM_000548.5(TSC2):c.1671G>A (p.Leu557=) rs761975891
NM_000548.5(TSC2):c.1716+15C>G rs199964793
NM_000548.5(TSC2):c.1717-20G>T rs1555505006
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.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1869C>G (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
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.1912G>T (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.1982G>A (p.Gly661Asp) rs1213719461
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn) rs1013995962
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.2220+12G>T rs780039835
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
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.2493G>A (p.Thr831=) rs773645613
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
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.2612T>C (p.Ile871Thr) rs2089269466
NM_000548.5(TSC2):c.2639+12C>T rs1400051232
NM_000548.5(TSC2):c.2640-2A>G rs137854380
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.2740A>C (p.Lys914Gln) rs1422374195
NM_000548.5(TSC2):c.2742+11G>A rs1256570311
NM_000548.5(TSC2):c.2760C>T (p.Val920=) rs149490538
NM_000548.5(TSC2):c.2885C>T (p.Pro962Leu) rs367640434
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.3052C>T (p.Leu1018Phe) rs1034696882
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met) rs1596382895
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
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.3397+1G>A rs137854208
NM_000548.5(TSC2):c.3399G>A (p.Gly1133=) rs2151455530
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=) rs772580979
NM_000548.5(TSC2):c.365T>A (p.Leu122His) rs756263581
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=) rs777489742
NM_000548.5(TSC2):c.3744C>G (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys) rs1555494586
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=) rs891262541
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.3891C>G (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr) rs1349341137
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.5(TSC2):c.3977T>C (p.Met1326Thr) rs2090429801
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.4107G>C (p.Arg1369=) rs201688447
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.4369C>T (p.Arg1457Trp) rs746729857
NM_000548.5(TSC2):c.444C>T (p.Asp148=) rs767968378
NM_000548.5(TSC2):c.4493+16_4493+17delinsGT rs2151539107
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=) rs771595886
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.4570-13C>T rs370549253
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.4586G>A (p.Arg1529Gln) rs769834772
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=) rs202212109
NM_000548.5(TSC2):c.4663-11_4663-5del rs760527750
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.4716G>A (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val) rs1189857262
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala) rs45498401
NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu) rs760978505
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) rs1060499676
NM_000548.5(TSC2):c.5169A>G (p.Ser1723=) rs1567131059
NM_000548.5(TSC2):c.5204T>G (p.Ile1735Ser) rs786203769
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro) rs2151631825
NM_000548.5(TSC2):c.523G>C (p.Glu175Gln) rs1555498151
NM_000548.5(TSC2):c.5260-1G>A rs1057518103
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.600-18G>C rs199683502
NM_000548.5(TSC2):c.641_648+1del rs2085795613
NM_000548.5(TSC2):c.648+11C>G rs371896390
NM_000548.5(TSC2):c.722T>C (p.Val241Ala) rs888878542
NM_000548.5(TSC2):c.726C>T (p.Thr242=) rs570051626
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) rs878854122
NM_000548.5(TSC2):c.975+15G>A rs753334357
NM_000548.5(TSC2):c.975+19G>T rs909473730
NM_000548.5(TSC2):c.976-15G>A rs45517150

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