ClinVar Miner

List of variants in gene TSC2 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 419
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_000548.5(TSC2):c.2546-12C>T rs13331451 0.21707
NM_000548.5(TSC2):c.5260-49C>T rs13332221 0.19533
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_000548.5(TSC2):c.2221-28A>G rs7196184 0.11019
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000548.5(TSC2):c.1600-39C>T rs45477195 0.07469
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000548.5(TSC2):c.3610+42dup rs397515119 0.04010
NM_000548.5(TSC2):c.*26G>A rs13332015 0.03592
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_000548.5(TSC2):c.2546-31G>A rs145738496 0.01027
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384 0.01015
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_000548.5(TSC2):c.2097+43A>G rs186681035 0.00912
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742 0.00823
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_000548.5(TSC2):c.2743-40A>G rs45517265 0.00586
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221 0.00480
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875 0.00415
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.848+7G>A rs45442896 0.00376
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_000548.5(TSC2):c.1361+18G>C rs140223009 0.00350
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
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.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_000548.5(TSC2):c.*35G>A rs200025534 0.00226
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_000548.5(TSC2):c.3815-15G>A rs45480591 0.00149
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_000548.5(TSC2):c.2565C>T (p.His855=) rs143537386 0.00138
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992 0.00109
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000548.5(TSC2):c.5161-9C>T rs45515893 0.00094
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267 0.00086
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_000548.5(TSC2):c.2838-4A>G rs45517272 0.00084
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_000548.5(TSC2):c.337-26G>C rs182543432 0.00068
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00067
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044 0.00061
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
NM_000548.5(TSC2):c.2640-13C>T rs201184637 0.00052
NM_000548.5(TSC2):c.3131+34C>T rs45487103 0.00052
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000548.5(TSC2):c.3815-20C>T rs201878712 0.00051
NM_000548.5(TSC2):c.975+13C>T rs200564575 0.00051
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046 0.00050
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214 0.00048
NM_000548.5(TSC2):c.649-35G>T rs112305151 0.00048
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640 0.00041
NM_000548.5(TSC2):c.4869C>T (p.Thr1623=) rs150239180 0.00041
NM_000548.5(TSC2):c.5259+25C>T rs201329593 0.00040
NM_000548.5(TSC2):c.5260-40C>T rs200623674 0.00039
NM_000548.5(TSC2):c.482-27C>T rs200473689 0.00037
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155 0.00036
NM_000548.5(TSC2):c.1512C>G (p.Val504=) rs146359990 0.00035
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=) rs371541319 0.00032
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148 0.00030
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276 0.00029
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794 0.00028
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307 0.00027
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_000548.5(TSC2):c.1170G>A (p.Thr390=) rs376144933 0.00025
NM_000548.5(TSC2):c.5244G>A (p.Lys1748=) rs150038278 0.00024
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=) rs45517381 0.00023
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189 0.00022
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr) rs146239734 0.00022
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984 0.00021
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638 0.00021
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=) rs373968155 0.00021
NM_000548.5(TSC2):c.4662+17G>A rs45443002 0.00019
NM_000548.5(TSC2):c.3942C>T (p.Pro1314=) rs759988275 0.00018
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00018
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379 0.00017
NM_000548.5(TSC2):c.4905C>T (p.Cys1635=) rs397514999 0.00017
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391 0.00017
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
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.4968C>T (p.Asp1656=) rs182327684 0.00016
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215 0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100 0.00015
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.3379C>T (p.Arg1127Trp) rs373939435 0.00014
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409 0.00014
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784 0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly) rs199644840 0.00013
NM_000548.5(TSC2):c.5160+23G>A rs368565375 0.00013
NM_000548.5(TSC2):c.1599+10G>A rs376692777 0.00012
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542 0.00012
NM_000548.5(TSC2):c.2546-5C>T rs45517247 0.00012
NM_000548.5(TSC2):c.3611-4G>A rs368926908 0.00012
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481 0.00012
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.4579T>C (p.Phe1527Leu) rs45514391 0.00011
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283 0.00011
NM_000548.5(TSC2):c.*5G>A rs201342697 0.00010
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331 0.00010
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=) rs45455897 0.00010
NM_000548.5(TSC2):c.1203C>T (p.His401=) rs199665674 0.00009
NM_000548.5(TSC2):c.4047G>A (p.Ala1349=) rs45468491 0.00009
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288 0.00008
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300 0.00008
NM_000548.5(TSC2):c.*7G>A rs765016970 0.00007
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=) rs760704956 0.00007
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000548.5(TSC2):c.5334A>G (p.Ala1778=) rs371580877 0.00007
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) rs139060277 0.00007
NM_000548.5(TSC2):c.1731C>T (p.Thr577=) rs144122318 0.00006
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410 0.00006
NM_000548.5(TSC2):c.3666C>T (p.Asp1222=) rs749870079 0.00006
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432 0.00006
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=) rs145033857 0.00006
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631 0.00006
NM_000548.5(TSC2):c.482-16G>A rs200647260 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=) rs141449031 0.00006
NM_000548.5(TSC2):c.5319T>C (p.His1773=) rs536518032 0.00006
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994 0.00006
NM_000548.5(TSC2):c.648+6T>C rs372007135 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.1874C>T (p.Ser625Leu) rs368285556 0.00005
NM_000548.5(TSC2):c.2220+4C>G rs781186613 0.00005
NM_000548.5(TSC2):c.3610+10G>A rs764446159 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His) rs760395277 0.00005
NM_000548.5(TSC2):c.1365C>T (p.Ser455=) rs34567401 0.00004
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694 0.00004
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr) rs375809212 0.00004
NM_000548.5(TSC2):c.2510C>G (p.Ala837Gly) rs139919040 0.00004
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009 0.00004
NM_000548.5(TSC2):c.2545+10C>T rs45517241 0.00004
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=) rs374145104 0.00004
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val) rs753907159 0.00004
NM_000548.5(TSC2):c.3870C>T (p.Ser1290=) rs754466663 0.00004
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=) rs779122170 0.00004
NM_000548.5(TSC2):c.4410C>T (p.Arg1470=) rs539032553 0.00004
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=) rs758374702 0.00004
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=) rs769246304 0.00004
NM_000548.5(TSC2):c.5034C>T (p.Tyr1678=) rs45467993 0.00004
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met) rs370864445 0.00004
NM_000548.5(TSC2):c.5161-4C>G rs45517406 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788 0.00004
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000548.5(TSC2):c.1332C>T (p.Asn444=) rs535984356 0.00003
NM_000548.5(TSC2):c.1642A>C (p.Arg548=) rs565375272 0.00003
NM_000548.5(TSC2):c.2220+11C>T rs372555496 0.00003
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619 0.00003
NM_000548.5(TSC2):c.2545+9C>G rs369385105 0.00003
NM_000548.5(TSC2):c.297C>T (p.His99=) rs752498350 0.00003
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753 0.00003
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=) rs144997264 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717 0.00003
NM_000548.5(TSC2):c.3600G>A (p.Arg1200=) rs1410559096 0.00003
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251 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.734G>A (p.Arg245His) rs397515011 0.00003
NM_000548.5(TSC2):c.775-5C>T rs181827303 0.00003
NM_000548.5(TSC2):c.1015G>A (p.Val339Ile) rs559727962 0.00002
NM_000548.5(TSC2):c.1842C>G (p.Ala614=) rs201575136 0.00002
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) rs1319342312 0.00002
NM_000548.5(TSC2):c.226-13C>T rs886038353 0.00002
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly) rs200929621 0.00002
NM_000548.5(TSC2):c.2673C>T (p.His891=) rs373866604 0.00002
NM_000548.5(TSC2):c.270G>A (p.Gln90=) rs779310889 0.00002
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys) rs759786102 0.00002
NM_000548.5(TSC2):c.3204T>C (p.Thr1068=) rs1060504101 0.00002
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889 0.00002
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483 0.00002
NM_000548.5(TSC2):c.354C>G (p.Val118=) rs762228318 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168 0.00002
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=) rs886051794 0.00002
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu) rs45517335 0.00002
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709 0.00002
NM_000548.5(TSC2):c.5161-8G>A rs374674097 0.00002
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603 0.00002
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980 0.00002
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr) rs758450326 0.00002
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu) rs778484981 0.00002
NM_000548.5(TSC2):c.5412C>T (p.Thr1804=) rs397515252 0.00002
NM_000548.5(TSC2):c.735C>T (p.Arg245=) rs763419528 0.00002
NM_000548.5(TSC2):c.945G>A (p.Ser315=) rs763948768 0.00002
NM_000548.5(TSC2):c.*4C>T rs368282661 0.00001
NM_000548.5(TSC2):c.1120-6C>T rs1327886668 0.00001
NM_000548.5(TSC2):c.134T>G (p.Leu45Arg) rs1383831944 0.00001
NM_000548.5(TSC2):c.1398G>A (p.Leu466=) rs200702857 0.00001
NM_000548.5(TSC2):c.1490C>A (p.Pro497His) rs1484576810 0.00001
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018 0.00001
NM_000548.5(TSC2):c.1839+10C>T rs868388786 0.00001
NM_000548.5(TSC2):c.1854G>C (p.Leu618=) rs1060504088 0.00001
NM_000548.5(TSC2):c.1932C>T (p.Cys644=) rs777665839 0.00001
NM_000548.5(TSC2):c.2035G>A (p.Val679Met) rs746315218 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.2122C>T (p.Leu708=) rs778040604 0.00001
NM_000548.5(TSC2):c.2128C>T (p.Leu710=) rs1225700612 0.00001
NM_000548.5(TSC2):c.2157T>C (p.Tyr719=) rs902456479 0.00001
NM_000548.5(TSC2):c.225+12C>A rs886038352 0.00001
NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr) rs574205203 0.00001
NM_000548.5(TSC2):c.234G>A (p.Val78=) rs1347487177 0.00001
NM_000548.5(TSC2):c.2355+5G>A rs756995937 0.00001
NM_000548.5(TSC2):c.2356-4G>A rs201156748 0.00001
NM_000548.5(TSC2):c.2436C>T (p.Ser812=) rs767178958 0.00001
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492 0.00001
NM_000548.5(TSC2):c.252G>A (p.Ala84=) rs1316543957 0.00001
NM_000548.5(TSC2):c.2568C>G (p.Leu856=) rs886038354 0.00001
NM_000548.5(TSC2):c.256G>A (p.Ala86Thr) rs1190158836 0.00001
NM_000548.5(TSC2):c.2586G>A (p.Ala862=) rs752865665 0.00001
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391 0.00001
NM_000548.5(TSC2):c.281C>T (p.Pro94Leu) rs200045926 0.00001
NM_000548.5(TSC2):c.2970G>T (p.Arg990Ser) rs1317631053 0.00001
NM_000548.5(TSC2):c.2997C>T (p.Ser999=) rs893757571 0.00001
NM_000548.5(TSC2):c.327G>A (p.Val109=) rs754348511 0.00001
NM_000548.5(TSC2):c.3285-19C>T rs45517291 0.00001
NM_000548.5(TSC2):c.3385C>T (p.Arg1129Cys) rs1028039505 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.3883+5C>T rs45448994 0.00001
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509 0.00001
NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys) rs45469392 0.00001
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=) rs1260508226 0.00001
NM_000548.5(TSC2):c.4569+4G>A rs1051944517 0.00001
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464 0.00001
NM_000548.5(TSC2):c.4692T>C (p.Asn1564=) rs774664591 0.00001
NM_000548.5(TSC2):c.4868C>G (p.Thr1623Ser) rs397515220 0.00001
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796 0.00001
NM_000548.5(TSC2):c.4941C>T (p.Ser1647=) rs780279747 0.00001
NM_000548.5(TSC2):c.5109G>A (p.Val1703=) rs770413433 0.00001
NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser) rs772439098 0.00001
NM_000548.5(TSC2):c.5199C>T (p.Thr1733=) rs778378296 0.00001
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val) rs781407050 0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292 0.00001
NM_000548.5(TSC2):c.837C>T (p.Leu279=) rs746694709 0.00001
NM_000548.5(TSC2):c.849-4T>C rs752614339 0.00001
NM_000548.5(TSC2):c.849-6T>G rs886038358 0.00001
NM_000548.5(TSC2):c.866C>T (p.Ala289Val) rs755631210 0.00001
NM_000548.5(TSC2):c.990G>A (p.Pro330=) rs752141469 0.00001
NM_000548.5(TSC2):c.1012A>T (p.Ile338Phe)
NM_000548.5(TSC2):c.1119+6_1119+28del rs1358834036
NM_000548.5(TSC2):c.1134G>A (p.Pro378=) rs754343186
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter) rs45457701
NM_000548.5(TSC2):c.1278G>C (p.Leu426=)
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1311C>A (p.Ala437=) rs752435039
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.1377C>G (p.Gly459=) rs45517170
NM_000548.5(TSC2):c.138+9G>A
NM_000548.5(TSC2):c.1443+4C>G rs45517172
NM_000548.5(TSC2):c.1491C>T (p.Pro497=) rs781367910
NM_000548.5(TSC2):c.1564CAC[1] (p.His523del) rs2087028639
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu) rs764191178
NM_000548.5(TSC2):c.1626C>A (p.Pro542=) rs376234285
NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr) rs748938385
NM_000548.5(TSC2):c.1686A>C (p.Thr562=)
NM_000548.5(TSC2):c.1716+48C>G rs200355157
NM_000548.5(TSC2):c.1731C>G (p.Thr577=) rs144122318
NM_000548.5(TSC2):c.1791C>G (p.His597Gln) rs886038350
NM_000548.5(TSC2):c.1824C>T (p.Ser608=) rs886038351
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1885C>T (p.Leu629=) rs570409651
NM_000548.5(TSC2):c.1912G>A (p.Val638Met) rs587778730
NM_000548.5(TSC2):c.2193C>T (p.Asp731=) rs760053529
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter) rs45517220
NM_000548.5(TSC2):c.2259C>G (p.Ala753=)
NM_000548.5(TSC2):c.226-1G>A rs397515134
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.5(TSC2):c.2468T>A (p.Leu823Gln)
NM_000548.5(TSC2):c.2520C>T (p.Ala840=) rs147683438
NM_000548.5(TSC2):c.2539C>G (p.Leu847Val)
NM_000548.5(TSC2):c.2553C>G (p.Ala851=)
NM_000548.5(TSC2):c.2587G>T (p.Glu863Ter)
NM_000548.5(TSC2):c.258G>C (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.2639+44C>G rs1800715
NM_000548.5(TSC2):c.2639+5G>C
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.271C>T (p.Pro91Ser) rs1555496979
NM_000548.5(TSC2):c.2743-3C>T
NM_000548.5(TSC2):c.2809_2816delinsGTC (p.Ser937fs)
NM_000548.5(TSC2):c.2838-125C>T
NM_000548.5(TSC2):c.2838-127C>T
NM_000548.5(TSC2):c.291_299del (p.Arg98_Ala100del)
NM_000548.5(TSC2):c.292C>A (p.Arg98=) rs372321790
NM_000548.5(TSC2):c.2946G>C (p.Val982=) rs771332931
NM_000548.5(TSC2):c.2957dup (p.Val987fs) rs2089598055
NM_000548.5(TSC2):c.2987C>T (p.Thr996Ile) rs1596382185
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3102C>G (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3232C>A (p.Arg1078=) rs78956195
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser) rs796053493
NM_000548.5(TSC2):c.3274C>T (p.Pro1092Ser) rs2089845906
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs) rs397515144
NM_000548.5(TSC2):c.3339G>A (p.Glu1113=) rs1060504092
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter) rs137854253
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.336+33G>T rs45517104
NM_000548.5(TSC2):c.3490G>T (p.Ala1164Ser) rs776579875
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) rs45482795
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=) rs758114962
NM_000548.5(TSC2):c.3678G>T (p.Met1226Ile)
NM_000548.5(TSC2):c.3695_3700delinsTA (p.Ser1232fs)
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3846_3847del (p.Ser1282fs)
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3850_3856del (p.Gln1284fs) rs752493138
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.3884-32C>T rs886038355
NM_000548.5(TSC2):c.3884-37A>T rs886038356
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) rs371239156
NM_000548.5(TSC2):c.4005+10G>T rs2090437677
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4049A>T (p.Glu1350Val) rs1378842608
NM_000548.5(TSC2):c.4089CTC[1] (p.Ser1365del) rs755101865
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe) rs145476528
NM_000548.5(TSC2):c.4247C>A (p.Ala1416Asp)
NM_000548.5(TSC2):c.4344C>T (p.Ser1448=)
NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser) rs369553241
NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr) rs137854879
NM_000548.5(TSC2):c.4494-7T>C rs1060504099
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met) rs928525608
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4562C>T (p.Pro1521Leu) rs1060500966
NM_000548.5(TSC2):c.4569+46C>T rs45482793
NM_000548.5(TSC2):c.4569+47G>A rs45517351
NM_000548.5(TSC2):c.4622A>G (p.Asp1541Gly)
NM_000548.5(TSC2):c.4662G>C (p.Gln1554His) rs137854880
NM_000548.5(TSC2):c.4663-16_4663-15del rs796053477
NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter) rs45517360
NM_000548.5(TSC2):c.4682T>A (p.Ile1561Asn)
NM_000548.5(TSC2):c.4716G>C (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter) rs45517368
NM_000548.5(TSC2):c.482-20T>A rs548831116
NM_000548.5(TSC2):c.4849+1G>T rs45517375
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=) rs1567124948
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5021C>G (p.Thr1674Ser) rs1555439727
NM_000548.5(TSC2):c.5069-23G>T
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr) rs397515110
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5160+18C>T
NM_000548.5(TSC2):c.5160+20G>A
NM_000548.5(TSC2):c.5160+37C>G
NM_000548.5(TSC2):c.5160+3G>C rs45517401
NM_000548.5(TSC2):c.5161-22C>A
NM_000548.5(TSC2):c.5175G>A (p.Val1725=) rs886038357
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro) rs1555440475
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5246G>C (p.Arg1749Pro)
NM_000548.5(TSC2):c.5259+2_5259+28del rs759520580
NM_000548.5(TSC2):c.5260-25C>G rs13332222
NM_000548.5(TSC2):c.5324_5325dup (p.Ala1776fs) rs2151639909
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val) rs755900742
NM_000548.5(TSC2):c.5355A>G (p.Thr1785=) rs1057522896
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=) rs966695764
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys) rs376017665
NM_000548.5(TSC2):c.600-155G>A
NM_000548.5(TSC2):c.726C>T (p.Thr242=) rs570051626
NM_000548.5(TSC2):c.774G>A (p.Lys258=)
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter) rs45517140
NM_000548.5(TSC2):c.936C>G (p.Leu312=) rs2086239603
NM_000548.5(TSC2):c.976-15G>A rs45517150

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