ClinVar Miner

List of variants in gene TSC2 reported as likely benign by Sema4, Sema4

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
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.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640 0.00041
NM_000548.5(TSC2):c.1512C>G (p.Val504=) rs146359990 0.00035
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995 0.00025
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=) rs45517381 0.00023
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223 0.00022
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.1377C>T (p.Gly459=) rs45517170 0.00019
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met) rs147284943 0.00019
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=) rs144965811 0.00019
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695 0.00019
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00018
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=) rs141252704 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.3379C>T (p.Arg1127Trp) rs373939435 0.00014
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578 0.00014
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 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.2546-5C>T rs45517247 0.00012
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283 0.00011
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_000548.5(TSC2):c.1203C>T (p.His401=) rs199665674 0.00009
NM_000548.5(TSC2):c.2743-9C>T rs397515319 0.00009
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=) rs369943684 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.1628C>T (p.Pro543Leu) rs45517188 0.00008
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300 0.00008
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys) rs45517126 0.00008
NM_000548.5(TSC2):c.775-4G>A rs754957491 0.00008
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898 0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515 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.4558C>T (p.Leu1520=) rs374687688 0.00007
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=) rs370770569 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.2546-6C>T rs372088609 0.00006
NM_000548.5(TSC2):c.3327G>A (p.Pro1109=) rs45478393 0.00006
NM_000548.5(TSC2):c.3883+6G>A rs757751865 0.00006
NM_000548.5(TSC2):c.4794C>T (p.Asp1598=) rs548102930 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496 0.00006
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162 0.00005
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00005
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296 0.00005
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046 0.00005
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.4469A>G (p.Glu1490Gly) rs759882146 0.00005
NM_000548.5(TSC2):c.4849+12C>T rs45517373 0.00005
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His) rs760395277 0.00005
NM_000548.5(TSC2):c.669C>T (p.Asp223=) rs35501344 0.00005
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu) rs587778728 0.00004
NM_000548.5(TSC2):c.1095C>T (p.Ile365=) rs757135168 0.00004
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694 0.00004
NM_000548.5(TSC2):c.1752G>A (p.Thr584=) rs141285742 0.00004
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168 0.00004
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009 0.00004
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306 0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711 0.00004
NM_000548.5(TSC2):c.4038G>A (p.Ser1346=) rs756763596 0.00004
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=) rs749358180 0.00004
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=) rs528080018 0.00004
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196 0.00004
NM_000548.5(TSC2):c.5010C>T (p.His1670=) rs376306544 0.00004
NM_000548.5(TSC2):c.5034C>T (p.Tyr1678=) rs45467993 0.00004
NM_000548.5(TSC2):c.5122C>T (p.Leu1708=) rs1168265181 0.00004
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=) rs760978505 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.5331T>C (p.Pro1777=) rs370820622 0.00004
NM_000548.5(TSC2):c.759C>T (p.Cys253=) rs45517125 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.1029C>A (p.Thr343=) rs45468201 0.00003
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154 0.00003
NM_000548.5(TSC2):c.1258-5G>T rs925954967 0.00003
NM_000548.5(TSC2):c.1332C>T (p.Asn444=) rs535984356 0.00003
NM_000548.5(TSC2):c.2034C>T (p.Ala678=) rs781740263 0.00003
NM_000548.5(TSC2):c.258G>A (p.Ala86=) rs397514912 0.00003
NM_000548.5(TSC2):c.2781C>T (p.Thr927=) rs376275903 0.00003
NM_000548.5(TSC2):c.2837+12G>A rs755041349 0.00003
NM_000548.5(TSC2):c.297C>T (p.His99=) rs752498350 0.00003
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717 0.00003
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=) rs761232933 0.00003
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825 0.00003
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=) rs45508504 0.00003
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=) rs368534883 0.00003
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103 0.00003
NM_000548.5(TSC2):c.4849+4C>T rs370426490 0.00003
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559 0.00003
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr) rs45517113 0.00003
NM_000548.5(TSC2):c.627C>T (p.Thr209=) rs776293094 0.00003
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011 0.00003
NM_000548.5(TSC2):c.864C>T (p.Asp288=) rs780887572 0.00003
NM_000548.5(TSC2):c.1071G>A (p.Ala357=) rs776395163 0.00002
NM_000548.5(TSC2):c.1444-29G>T rs778300365 0.00002
NM_000548.5(TSC2):c.2628C>T (p.Thr876=) rs778678783 0.00002
NM_000548.5(TSC2):c.2916C>A (p.Ala972=) rs751474097 0.00002
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=) rs747104674 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.3295G>A (p.Gly1099Arg) rs776855601 0.00002
NM_000548.5(TSC2):c.3396G>A (p.Ser1132=) rs373004429 0.00002
NM_000548.5(TSC2):c.344G>A (p.Arg115His) rs764529584 0.00002
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=) rs201305783 0.00002
NM_000548.5(TSC2):c.3610+4C>T rs201978396 0.00002
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540 0.00002
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382 0.00002
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=) rs757244510 0.00002
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738 0.00002
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=) rs911307922 0.00002
NM_000548.5(TSC2):c.4494-10C>T rs753499012 0.00002
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=) rs377377367 0.00002
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709 0.00002
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn) rs45482398 0.00002
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val) rs374066182 0.00002
NM_000548.5(TSC2):c.5274C>T (p.Ala1758=) rs752945858 0.00002
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr) rs758450326 0.00002
NM_000548.5(TSC2):c.5412C>T (p.Thr1804=) rs397515252 0.00002
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828 0.00002
NM_000548.5(TSC2):c.735C>T (p.Arg245=) rs763419528 0.00002
NM_000548.5(TSC2):c.1194C>T (p.Asn398=) rs369172347 0.00001
NM_000548.5(TSC2):c.1314G>A (p.Lys438=) rs201584852 0.00001
NM_000548.5(TSC2):c.1653C>T (p.Ala551=) rs202171361 0.00001
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018 0.00001
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=) rs45509094 0.00001
NM_000548.5(TSC2):c.1800C>T (p.His600=) rs762782913 0.00001
NM_000548.5(TSC2):c.1854G>C (p.Leu618=) rs1060504088 0.00001
NM_000548.5(TSC2):c.1946+6C>T rs754069880 0.00001
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379 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.2553C>T (p.Ala851=) rs745687916 0.00001
NM_000548.5(TSC2):c.2554A>C (p.Arg852=) rs769586763 0.00001
NM_000548.5(TSC2):c.2562G>A (p.Pro854=) rs779606786 0.00001
NM_000548.5(TSC2):c.2655C>T (p.Ile885=) rs1060504116 0.00001
NM_000548.5(TSC2):c.2743-4C>T rs1258692002 0.00001
NM_000548.5(TSC2):c.2778C>T (p.Asp926=) rs776069297 0.00001
NM_000548.5(TSC2):c.2886C>T (p.Pro962=) rs140202176 0.00001
NM_000548.5(TSC2):c.3201C>G (p.Val1067=) rs781532053 0.00001
NM_000548.5(TSC2):c.324C>T (p.Ile108=) rs973500815 0.00001
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) rs150126331 0.00001
NM_000548.5(TSC2):c.3480T>G (p.Thr1160=) rs766888262 0.00001
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=) rs139313964 0.00001
NM_000548.5(TSC2):c.3555C>T (p.Ala1185=) rs745762286 0.00001
NM_000548.5(TSC2):c.3594G>A (p.Leu1198=) rs202114637 0.00001
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly) rs767755750 0.00001
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=) rs773240506 0.00001
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=) rs199742312 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.4448G>C (p.Arg1483Thr) rs370114027 0.00001
NM_000548.5(TSC2):c.4569+4G>A rs1051944517 0.00001
NM_000548.5(TSC2):c.4833C>T (p.His1611=) rs765271161 0.00001
NM_000548.5(TSC2):c.4893C>T (p.Asp1631=) rs772915632 0.00001
NM_000548.5(TSC2):c.5069-11A>G rs562381623 0.00001
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=) rs910514279 0.00001
NM_000548.5(TSC2):c.5199C>T (p.Thr1733=) rs778378296 0.00001
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser) rs780112037 0.00001
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=) rs772865175 0.00001
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919 0.00001
NM_000548.5(TSC2):c.5352C>G (p.Pro1784=) rs1367848310 0.00001
NM_000548.5(TSC2):c.5370G>C (p.Val1790=) rs762032752 0.00001
NM_000548.5(TSC2):c.558C>T (p.Phe186=) rs775642056 0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292 0.00001
NM_000548.5(TSC2):c.642C>T (p.Asp214=) rs763726222 0.00001
NM_000548.5(TSC2):c.693G>A (p.Leu231=) rs764417359 0.00001
NM_000548.5(TSC2):c.720C>T (p.Ile240=) rs45517123 0.00001
NM_000548.5(TSC2):c.744C>T (p.Asn248=) rs767565673 0.00001
NM_000548.5(TSC2):c.786C>T (p.Asn262=) rs1485087555 0.00001
NM_000548.5(TSC2):c.807C>T (p.Gly269=) rs1297815371 0.00001
NM_000548.5(TSC2):c.837C>T (p.Leu279=) rs746694709 0.00001
NM_000548.5(TSC2):c.1005C>T (p.Ser335=) rs397514924
NM_000548.5(TSC2):c.1014C>T (p.Ile338=) rs1250621196
NM_000548.5(TSC2):c.1128C>T (p.Asp376=) rs1183791367
NM_000548.5(TSC2):c.1278G>A (p.Leu426=) rs749771063
NM_000548.5(TSC2):c.1407G>C (p.Leu469=) rs1458720483
NM_000548.5(TSC2):c.1491C>T (p.Pro497=) rs781367910
NM_000548.5(TSC2):c.1626C>T (p.Pro542=) rs376234285
NM_000548.5(TSC2):c.1717-12CT[3] rs769094940
NM_000548.5(TSC2):c.1732C>T (p.Leu578=) rs1204972424
NM_000548.5(TSC2):c.2020C>T (p.Pro674Ser) rs760566516
NM_000548.5(TSC2):c.2098-5C>G rs369072310
NM_000548.5(TSC2):c.2211C>T (p.Leu737=) rs369851248
NM_000548.5(TSC2):c.2289C>T (p.His763=) rs1319959937
NM_000548.5(TSC2):c.2295C>G (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.5(TSC2):c.2352A>G (p.Lys784=) rs1596350666
NM_000548.5(TSC2):c.2508A>C (p.Thr836=) rs137854242
NM_000548.5(TSC2):c.2616C>T (p.Ser872=) rs779843919
NM_000548.5(TSC2):c.2784C>G (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.282G>T (p.Pro94=) rs145624233
NM_000548.5(TSC2):c.2922C>T (p.Ala974=) rs1555509505
NM_000548.5(TSC2):c.3058C>T (p.Leu1020=) rs574318440
NM_000548.5(TSC2):c.3102C>G (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3177C>T (p.Thr1059=) rs1031918517
NM_000548.5(TSC2):c.3330C>G (p.Ala1110=) rs1555510912
NM_000548.5(TSC2):c.3351G>A (p.Gly1117=) rs1596386166
NM_000548.5(TSC2):c.3495A>G (p.Lys1165=) rs1555511443
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=) rs754306983
NM_000548.5(TSC2):c.3611-11C>T rs375617364
NM_000548.5(TSC2):c.3611-5C>T rs200194551
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=) rs758114962
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=) rs181279399
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=) rs777489742
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3915G>C (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4389C>T (p.Ile1463=) rs1555514425
NM_000548.5(TSC2):c.4437C>A (p.Ala1479=) rs2151536553
NM_000548.5(TSC2):c.4452C>T (p.Ala1484=) rs1555514573
NM_000548.5(TSC2):c.4569+9G>A rs1596423506
NM_000548.5(TSC2):c.4641C>T (p.Val1547=) rs1060504087
NM_000548.5(TSC2):c.4663-20CCTCTCC[3] rs760527750
NM_000548.5(TSC2):c.4716G>C (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5069-13C>T rs542607400
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=) rs397515318
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=) rs557200243
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.633C>G (p.Ser211=) rs762659998
NM_000548.5(TSC2):c.684C>T (p.Tyr228=) rs397515034
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000548.5(TSC2):c.936C>G (p.Leu312=) rs2086239603

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