ClinVar Miner

List of variants in gene TSC2 reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 385
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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.482-3C>T rs1800720 0.12927
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
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.3883+8C>G rs45517316 0.01297
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
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.2031C>T (p.Pro677=) rs45517208 0.00361
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
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.4269G>A (p.Leu1423=) rs45438898 0.00287
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.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
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.1946T>C (p.Met649Thr) rs45490792 0.00116
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.262C>T (p.Leu88=) rs45485999 0.00096
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267 0.00086
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.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_000548.5(TSC2):c.2742+13C>T rs45517260 0.00065
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.4989+15G>A rs199610889 0.00052
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.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046 0.00050
NM_000548.5(TSC2):c.649-35G>T rs112305151 0.00048
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
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.5259+25C>T rs201329593 0.00040
NM_000548.5(TSC2):c.5260-40C>T rs200623674 0.00039
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.4850-19C>T rs45517376 0.00032
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307 0.00027
NM_000548.5(TSC2):c.1120-17C>T rs201704675 0.00026
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.4095G>A (p.Ser1365=) rs139630605 0.00025
NM_000548.5(TSC2):c.2742+14C>T rs765251896 0.00023
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493 0.00022
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638 0.00021
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500 0.00019
NM_000548.5(TSC2):c.4662+17G>A rs45443002 0.00019
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695 0.00019
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 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.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295 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.300G>A (p.Ala100=) rs45517100 0.00015
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602 0.00015
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.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.1599+10G>A rs376692777 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_000548.5(TSC2):c.4493+16C>G rs45491597 0.00012
NM_000548.5(TSC2):c.1946+20C>T rs372149311 0.00011
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 0.00011
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331 0.00010
NM_000548.5(TSC2):c.2743-9C>T rs397515319 0.00009
NM_000548.5(TSC2):c.4006-19T>G rs200900825 0.00009
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000 0.00009
NM_000548.5(TSC2):c.481+12C>T rs777645015 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.3815-16C>T rs546810161 0.00008
NM_000548.5(TSC2):c.4569+12C>T rs45517350 0.00008
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys) rs45517126 0.00008
NM_000548.5(TSC2):c.1120-16G>A rs768241936 0.00007
NM_000548.5(TSC2):c.2220+12G>A rs780039835 0.00007
NM_000548.5(TSC2):c.5259+9T>C rs1057522018 0.00007
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) rs139060277 0.00007
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.3666C>T (p.Asp1222=) rs749870079 0.00006
NM_000548.5(TSC2):c.5319T>C (p.His1773=) rs536518032 0.00006
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His) rs137854288 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.282G>A (p.Pro94=) rs145624233 0.00005
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000548.5(TSC2):c.1245G>A (p.Ala415=) rs757325185 0.00004
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr) rs760896048 0.00004
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694 0.00004
NM_000548.5(TSC2):c.1716+16G>A rs45517189 0.00004
NM_000548.5(TSC2):c.2639+10C>T rs137854378 0.00004
NM_000548.5(TSC2):c.2742+15G>A rs45517261 0.00004
NM_000548.5(TSC2):c.2887G>A (p.Val963Met) rs45517275 0.00004
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu) rs587781774 0.00004
NM_000548.5(TSC2):c.3884-16G>A rs544004178 0.00004
NM_000548.5(TSC2):c.4108C>T (p.Pro1370Ser) rs747293303 0.00004
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=) rs769246304 0.00004
NM_000548.5(TSC2):c.5010C>T (p.His1670=) rs376306544 0.00004
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met) rs370864445 0.00004
NM_000548.5(TSC2):c.5161-20C>T rs200315428 0.00004
NM_000548.5(TSC2):c.5161-4C>G rs45517406 0.00004
NM_000548.5(TSC2):c.5313G>A (p.Pro1771=) rs765607686 0.00004
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile) rs778395191 0.00004
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788 0.00004
NM_000548.5(TSC2):c.975+8G>A rs137853984 0.00004
NM_000548.5(TSC2):c.1257+17G>T rs369939081 0.00003
NM_000548.5(TSC2):c.1308G>A (p.Pro436=) rs753764275 0.00003
NM_000548.5(TSC2):c.1332C>T (p.Asn444=) rs535984356 0.00003
NM_000548.5(TSC2):c.139-15T>G rs563094714 0.00003
NM_000548.5(TSC2):c.1443+14C>T rs753454333 0.00003
NM_000548.5(TSC2):c.1600-10C>T rs768188836 0.00003
NM_000548.5(TSC2):c.1815A>G (p.Pro605=) rs961687056 0.00003
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267 0.00003
NM_000548.5(TSC2):c.1946+7G>A rs759576009 0.00003
NM_000548.5(TSC2):c.2220+11C>T rs372555496 0.00003
NM_000548.5(TSC2):c.2355+20C>T rs1031112467 0.00003
NM_000548.5(TSC2):c.2545+9C>G rs369385105 0.00003
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249 0.00003
NM_000548.5(TSC2):c.2837+12G>A rs755041349 0.00003
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753 0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305 0.00003
NM_000548.5(TSC2):c.336+14C>T rs570065416 0.00003
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717 0.00003
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys) rs137854391 0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406 0.00003
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg) rs769286175 0.00003
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341 0.00003
NM_000548.5(TSC2):c.4663-14C>T rs397515174 0.00003
NM_000548.5(TSC2):c.481+8C>T rs758228838 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000548.5(TSC2):c.649-20G>A rs377558380 0.00003
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011 0.00003
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr) rs777988634 0.00002
NM_000548.5(TSC2):c.1071G>A (p.Ala357=) rs776395163 0.00002
NM_000548.5(TSC2):c.1257+8C>A rs767392684 0.00002
NM_000548.5(TSC2):c.1258-16G>T rs979174870 0.00002
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn) rs374371998 0.00002
NM_000548.5(TSC2):c.1785G>A (p.Gln595=) rs150352976 0.00002
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=) rs367553206 0.00002
NM_000548.5(TSC2):c.1977C>T (p.Thr659=) rs369065703 0.00002
NM_000548.5(TSC2):c.226-13C>T rs886038353 0.00002
NM_000548.5(TSC2):c.2639+11G>A rs1057520919 0.00002
NM_000548.5(TSC2):c.2742+4G>A rs587781683 0.00002
NM_000548.5(TSC2):c.2966+19G>T rs377514748 0.00002
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly) rs753730009 0.00002
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=) rs149098424 0.00002
NM_000548.5(TSC2):c.3295G>A (p.Gly1099Arg) rs776855601 0.00002
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=) rs201305783 0.00002
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382 0.00002
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu) rs776049462 0.00002
NM_000548.5(TSC2):c.411C>T (p.His137=) rs776129896 0.00002
NM_000548.5(TSC2):c.4155C>G (p.Ser1385=) rs1057521540 0.00002
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu) rs45517335 0.00002
NM_000548.5(TSC2):c.4494-11dup rs770333078 0.00002
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=) rs377377367 0.00002
NM_000548.5(TSC2):c.4662+16C>T rs45517356 0.00002
NM_000548.5(TSC2):c.4849+18C>T rs45517374 0.00002
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn) rs45482398 0.00002
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=) rs1376515823 0.00002
NM_000548.5(TSC2):c.5160+7G>C rs45506600 0.00002
NM_000548.5(TSC2):c.5260-12C>T rs769264472 0.00002
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala) rs777006583 0.00002
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu) rs778484981 0.00002
NM_000548.5(TSC2):c.648+14C>T rs941595244 0.00002
NM_000548.5(TSC2):c.657G>A (p.Leu219=) rs768570301 0.00002
NM_000548.5(TSC2):c.663G>A (p.Val221=) rs774115464 0.00002
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828 0.00002
NM_000548.5(TSC2):c.945G>A (p.Ser315=) rs763948768 0.00002
NM_000548.5(TSC2):c.975+7C>T rs372463702 0.00002
NM_000548.5(TSC2):c.-29-18C>T rs1319033169 0.00001
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala) rs757113497 0.00001
NM_000548.5(TSC2):c.1361+13C>T rs900870796 0.00001
NM_000548.5(TSC2):c.1361+20C>G rs538626543 0.00001
NM_000548.5(TSC2):c.1362-5C>T rs372424945 0.00001
NM_000548.5(TSC2):c.1455T>C (p.Ile485=) rs1239743041 0.00001
NM_000548.5(TSC2):c.1473G>A (p.Ser491=) rs764767361 0.00001
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178 0.00001
NM_000548.5(TSC2):c.1717-16C>T rs45517191 0.00001
NM_000548.5(TSC2):c.1800C>T (p.His600=) rs762782913 0.00001
NM_000548.5(TSC2):c.1839+10C>T rs868388786 0.00001
NM_000548.5(TSC2):c.1911C>T (p.Val637=) rs543584836 0.00001
NM_000548.5(TSC2):c.2028C>T (p.Gly676=) rs1057520807 0.00001
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu) rs376974525 0.00001
NM_000548.5(TSC2):c.2035G>A (p.Val679Met) rs746315218 0.00001
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=) rs1186913814 0.00001
NM_000548.5(TSC2):c.2098-9T>C rs755416873 0.00001
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe) rs781153452 0.00001
NM_000548.5(TSC2):c.225+12C>A rs886038352 0.00001
NM_000548.5(TSC2):c.2331T>C (p.His777=) rs139963953 0.00001
NM_000548.5(TSC2):c.2355+5G>A rs756995937 0.00001
NM_000548.5(TSC2):c.2355+6A>T rs904030973 0.00001
NM_000548.5(TSC2):c.2355+8G>A rs199558375 0.00001
NM_000548.5(TSC2):c.2415C>T (p.Val805=) rs45517235 0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473 0.00001
NM_000548.5(TSC2):c.2436C>T (p.Ser812=) rs767178958 0.00001
NM_000548.5(TSC2):c.2546-4G>A rs746958032 0.00001
NM_000548.5(TSC2):c.2568C>G (p.Leu856=) rs886038354 0.00001
NM_000548.5(TSC2):c.2601T>C (p.Ser867=) rs878854086 0.00001
NM_000548.5(TSC2):c.2743-16G>A rs896016432 0.00001
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391 0.00001
NM_000548.5(TSC2):c.2778C>T (p.Asp926=) rs776069297 0.00001
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val) rs754276150 0.00001
NM_000548.5(TSC2):c.3131+8C>T rs763702215 0.00001
NM_000548.5(TSC2):c.3284+20C>T rs1057521477 0.00001
NM_000548.5(TSC2):c.3285-19C>T rs45517291 0.00001
NM_000548.5(TSC2):c.336+8C>T rs779174834 0.00001
NM_000548.5(TSC2):c.3397+15C>T rs202246408 0.00001
NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val) rs1057521812 0.00001
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly) rs767755750 0.00001
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=) rs1358537146 0.00001
NM_000548.5(TSC2):c.3639G>A (p.Glu1213=) rs747862818 0.00001
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=) rs876659207 0.00001
NM_000548.5(TSC2):c.3814+10A>G rs200309006 0.00001
NM_000548.5(TSC2):c.3814+15G>A rs201225719 0.00001
NM_000548.5(TSC2):c.3815-18C>A rs947736117 0.00001
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365 0.00001
NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp) rs747104864 0.00001
NM_000548.5(TSC2):c.408T>G (p.Leu136=) rs1037058497 0.00001
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) rs769653533 0.00001
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=) rs1057522238 0.00001
NM_000548.5(TSC2):c.429C>T (p.Phe143=) rs137854406 0.00001
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=) rs536527623 0.00001
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr) rs774892845 0.00001
NM_000548.5(TSC2):c.4570-3C>T rs1166715944 0.00001
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) rs751305758 0.00001
NM_000548.5(TSC2):c.481+9C>T rs201026150 0.00001
NM_000548.5(TSC2):c.482-17C>T rs201589515 0.00001
NM_000548.5(TSC2):c.4989+12G>A rs1343916460 0.00001
NM_000548.5(TSC2):c.4989+5G>A rs1057522671 0.00001
NM_000548.5(TSC2):c.5097G>C (p.Val1699=) rs397515314 0.00001
NM_000548.5(TSC2):c.5161-12C>G rs1555440351 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.5336A>G (p.Gln1779Arg) rs748947919 0.00001
NM_000548.5(TSC2):c.5343A>G (p.Pro1781=) rs747614356 0.00001
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004 0.00001
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu) rs796053479 0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292 0.00001
NM_000548.5(TSC2):c.577G>A (p.Glu193Lys) rs45517112 0.00001
NM_000548.5(TSC2):c.599+10G>C rs1037449903 0.00001
NM_000548.5(TSC2):c.648+17C>A rs755431618 0.00001
NM_000548.5(TSC2):c.648+19C>T rs1196860918 0.00001
NM_000548.5(TSC2):c.720C>T (p.Ile240=) rs45517123 0.00001
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017 0.00001
NM_000548.5(TSC2):c.775-17C>T rs137854299 0.00001
NM_000548.5(TSC2):c.83C>A (p.Pro28His) rs1057522105 0.00001
NM_000548.5(TSC2):c.848+13G>T rs1402619251 0.00001
NM_000548.5(TSC2):c.848+19G>A rs1044793633 0.00001
NM_000548.5(TSC2):c.848+20C>T rs1459744028 0.00001
NM_000548.5(TSC2):c.849-6T>G rs886038358 0.00001
NM_000548.5(TSC2):c.857T>C (p.Met286Thr) rs45517136 0.00001
NM_000548.5(TSC2):c.885C>T (p.Ala295=) rs778296481 0.00001
NM_000548.5(TSC2):c.976-3C>T rs45517151 0.00001
NM_000548.5(TSC2):c.-29-17C>T rs201044312
NM_000548.5(TSC2):c.1077C>T (p.Asp359=) rs1555500558
NM_000548.5(TSC2):c.1083G>A (p.Leu361=) rs1057524138
NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg) rs1555500581
NM_000548.5(TSC2):c.1257+10C>T rs756063576
NM_000548.5(TSC2):c.1258-10C>G rs794727093
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.138+16G>A rs1555494744
NM_000548.5(TSC2):c.1422C>T (p.Leu474=) rs565646854
NM_000548.5(TSC2):c.1443+14C>A rs753454333
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.5(TSC2):c.153A>G (p.Glu51=) rs746366461
NM_000548.5(TSC2):c.1600-14C>A rs45517185
NM_000548.5(TSC2):c.1716+15C>T rs199964793
NM_000548.5(TSC2):c.1716+48C>G rs200355157
NM_000548.5(TSC2):c.1717-15G>A rs372949465
NM_000548.5(TSC2):c.1717-20G>T rs1555505006
NM_000548.5(TSC2):c.1728C>T (p.Tyr576=) rs966102111
NM_000548.5(TSC2):c.1740A>C (p.Ala580=) rs1057522755
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.1840-13C>G rs1186556063
NM_000548.5(TSC2):c.1840-4A>G rs1057523736
NM_000548.5(TSC2):c.1868C>T (p.Ala623Val) rs1057522306
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.1946+14C>T rs765322549
NM_000548.5(TSC2):c.2097+16_2097+20del rs1064794392
NM_000548.5(TSC2):c.2098-5C>T rs369072310
NM_000548.5(TSC2):c.2098-6T>C rs1057523252
NM_000548.5(TSC2):c.2220+20del rs1555506624
NM_000548.5(TSC2):c.2235G>A (p.Lys745=) rs762162898
NM_000548.5(TSC2):c.225+19G>A rs980875984
NM_000548.5(TSC2):c.2545+18C>T rs771970930
NM_000548.5(TSC2):c.2577C>T (p.Asn859=) rs1555508337
NM_000548.5(TSC2):c.2622G>T (p.Pro874=) rs141486629
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2639+14C>G rs1057520927
NM_000548.5(TSC2):c.2658G>A (p.Val886=) rs1035837417
NM_000548.5(TSC2):c.2742+20A>C rs1057521395
NM_000548.5(TSC2):c.2743-18G>A rs199539512
NM_000548.5(TSC2):c.2751G>A (p.Arg917=) rs1555508897
NM_000548.5(TSC2):c.2837+5G>A rs786203791
NM_000548.5(TSC2):c.2916C>T (p.Ala972=) rs751474097
NM_000548.5(TSC2):c.2946G>C (p.Val982=) rs771332931
NM_000548.5(TSC2):c.2982C>A (p.Ser994=) rs1555510188
NM_000548.5(TSC2):c.2985C>T (p.Leu995=) rs786203324
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.31_33delinsCTA (p.Leu11=) rs1064794201
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=) rs1555510717
NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu) rs796053474
NM_000548.5(TSC2):c.339C>T (p.Gly113=) rs368451664
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro) rs796053513
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3611-11C>T rs375617364
NM_000548.5(TSC2):c.3611-4G>T rs368926908
NM_000548.5(TSC2):c.3618C>G (p.Thr1206=) rs1057522260
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) rs45482795
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=) rs181279399
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.3884-32C>T rs886038355
NM_000548.5(TSC2):c.4006-12G>A rs1057524490
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4029G>C (p.Glu1343Asp) rs752502287
NM_000548.5(TSC2):c.4056G>C (p.Leu1352=) rs772309833
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=) rs1555514056
NM_000548.5(TSC2):c.4165C>T (p.Pro1389Ser) rs1057520843
NM_000548.5(TSC2):c.4167C>G (p.Pro1389=) rs45508504
NM_000548.5(TSC2):c.4198G>A (p.Asp1400Asn) rs762368225
NM_000548.5(TSC2):c.4398G>A (p.Ser1466=) rs376086638
NM_000548.5(TSC2):c.4494-15C>G rs993595235
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4663-16_4663-15del rs796053477
NM_000548.5(TSC2):c.4684C>T (p.Leu1562=) rs1057523304
NM_000548.5(TSC2):c.4716G>A (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.482-20T>A rs548831116
NM_000548.5(TSC2):c.4849+20C>T rs140884776
NM_000548.5(TSC2):c.4849+3A>G rs1057521378
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000548.5(TSC2):c.4917C>T (p.Arg1639=) rs1057524144
NM_000548.5(TSC2):c.4947C>G (p.Val1649=) rs778989782
NM_000548.5(TSC2):c.4990-5G>T rs753000765
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=) rs145002269
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5069-26_5069-6delinsGCCAAGAG rs1555439968
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=) rs45514196
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5161-10A>G rs1800718
NM_000548.5(TSC2):c.5175G>A (p.Val1725=) rs886038357
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=) rs751622894
NM_000548.5(TSC2):c.5338A>C (p.Thr1780Pro) rs989487316
NM_000548.5(TSC2):c.5355A>G (p.Thr1785=) rs1057522896
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=) rs1555441528
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.726C>T (p.Thr242=) rs570051626
NM_000548.5(TSC2):c.775-14_775-13del rs1555499015
NM_000548.5(TSC2):c.775-16G>C rs1359566041
NM_000548.5(TSC2):c.831C>T (p.Cys277=) rs1057523424
NM_000548.5(TSC2):c.861G>A (p.Glu287=) rs192567788
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln) rs137853986
NM_000548.5(TSC2):c.975+16T>C rs769084318

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