ClinVar Miner

List of variants in gene TSC2 reported by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr) rs786203769 0.00034
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305 0.00003
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp) rs1200837034 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg) rs1489623582 0.00002
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly) rs764608837 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met) rs1188230416 0.00001
NM_000548.5(TSC2):c.1946+9G>T rs1470276886 0.00001
NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala) rs763351805 0.00001
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr) rs777459404 0.00001
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134 0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473 0.00001
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) rs774758044 0.00001
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys) rs147523833 0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu) rs370415754 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2956G>A (p.Val986Met) rs765489754 0.00001
NM_000548.5(TSC2):c.2971A>G (p.Ile991Val) rs369524855 0.00001
NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln) rs751955670 0.00001
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852 0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244 0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu) rs751708490 0.00001
NM_000548.5(TSC2):c.3695C>T (p.Ser1232Phe) rs886039876 0.00001
NM_000548.5(TSC2):c.3940C>G (p.Pro1314Ala) rs771499212 0.00001
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104 0.00001
NM_000548.5(TSC2):c.4210A>G (p.Lys1404Glu) rs1384101814 0.00001
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn) rs1267811475 0.00001
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala) rs1459518095 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464 0.00001
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp) rs777592623 0.00001
NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly) rs767444397 0.00001
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) rs140526185 0.00001
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu) rs45517414 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser) rs762104739 0.00001
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys) rs45517144
NM_000548.5(TSC2):c.1024A>C (p.Ile342Leu)
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val) rs902767624
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro) rs1060500919
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg) rs45517154
NM_000548.5(TSC2):c.1180C>A (p.Leu394Met) rs1409309186
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val) rs1409309186
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys) rs773920155
NM_000548.5(TSC2):c.1202A>C (p.His401Pro) rs2086691569
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly) rs1057518321
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter) rs397514897
NM_000548.5(TSC2):c.1257+172C>G
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1258-2A>G rs45517160
NM_000548.5(TSC2):c.1258-6T>A
NM_000548.5(TSC2):c.125C>G (p.Ala42Gly)
NM_000548.5(TSC2):c.1295A>G (p.Gln432Arg)
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu) rs769147552
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.142C>G (p.Leu48Val) rs1486839704
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.146G>A (p.Ser49Asn) rs2084956276
NM_000548.5(TSC2):c.1481C>A (p.Ser494Tyr)
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.153A>T (p.Glu51Asp) rs746366461
NM_000548.5(TSC2):c.1559A>G (p.His520Arg) rs1220672669
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr) rs2151191974
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly) rs924098595
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu) rs764191178
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro) rs763183991
NM_000548.5(TSC2):c.1717A>C (p.Thr573Pro)
NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser) rs45517196
NM_000548.5(TSC2):c.1786C>T (p.Leu596Phe)
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val) rs1285778253
NM_000548.5(TSC2):c.183A>G (p.Ile61Met) rs2084961841
NM_000548.5(TSC2):c.1867G>A (p.Ala623Thr)
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu) rs1596342515
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.1933G>T (p.Val645Phe) rs746677177
NM_000548.5(TSC2):c.1955A>T (p.Glu652Val)
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) rs794727221
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala) rs1338802781
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu) rs756536921
NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala) rs397515068
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) rs778040604
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro) rs876659689
NM_000548.5(TSC2):c.2220+1G>T rs137854361
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2222T>G (p.Leu741Arg) rs2088681390
NM_000548.5(TSC2):c.2272T>C (p.Ser758Pro) rs2151327279
NM_000548.5(TSC2):c.2288A>C (p.His763Pro)
NM_000548.5(TSC2):c.2288A>T (p.His763Leu)
NM_000548.5(TSC2):c.2512A>G (p.Ser838Gly)
NM_000548.5(TSC2):c.2546-6C>G
NM_000548.5(TSC2):c.2552C>T (p.Ala851Val) rs1596364874
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.2608G>A (p.Ala870Thr) rs1060500975
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu) rs2151382293
NM_000548.5(TSC2):c.2656G>A (p.Val886Met) rs999523698
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2734A>C (p.Ile912Leu)
NM_000548.5(TSC2):c.2787G>T (p.Glu929Asp) rs968144525
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.2836A>G (p.Ser946Gly) rs2151396480
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.2896T>G (p.Phe966Val)
NM_000548.5(TSC2):c.2992G>C (p.Ala998Pro) rs1440361406
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) rs1440361406
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro) rs1555510317
NM_000548.5(TSC2):c.3167G>A (p.Arg1056Lys)
NM_000548.5(TSC2):c.3227G>C (p.Gly1076Ala)
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu) rs397515087
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys) rs1085307762
NM_000548.5(TSC2):c.3263T>C (p.Leu1088Pro)
NM_000548.5(TSC2):c.3284+1dup
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) rs775584262
NM_000548.5(TSC2):c.3393G>T (p.Met1131Ile) rs1297504532
NM_000548.5(TSC2):c.3502_3503delinsGC (p.Lys1168Ala)
NM_000548.5(TSC2):c.3542C>A (p.Thr1181Lys) rs373481458
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser) rs137854421
NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg) rs755559677
NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu) rs933257311
NM_000548.5(TSC2):c.3740C>G (p.Thr1247Arg) rs2151483328
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs) rs1555512845
NM_000548.5(TSC2):c.3824del (p.Phe1275fs) rs1185513978
NM_000548.5(TSC2):c.3867G>T (p.Arg1289Ser) rs1008733639
NM_000548.5(TSC2):c.391C>G (p.Pro131Ala) rs777398393
NM_000548.5(TSC2):c.3944C>T (p.Pro1315Leu) rs775990159
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val)
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys) rs878854099
NM_000548.5(TSC2):c.4005+4_4005+7dup rs796053519
NM_000548.5(TSC2):c.4005G>C (p.Arg1335Ser) rs2090436302
NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp) rs148527903
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter) rs45517329
NM_000548.5(TSC2):c.4146del (p.Ser1383fs)
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val) rs1204349917
NM_000548.5(TSC2):c.4351del (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val)
NM_000548.5(TSC2):c.4393G>A (p.Asp1465Asn) rs1425542648
NM_000548.5(TSC2):c.439A>G (p.Thr147Ala) rs1596265301
NM_000548.5(TSC2):c.4400C>T (p.Ala1467Val) rs2090531407
NM_000548.5(TSC2):c.4421G>A (p.Arg1474Lys) rs2090535225
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile) rs1202676769
NM_000548.5(TSC2):c.4435G>C (p.Ala1479Pro)
NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr)
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met) rs928525608
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4520C>G (p.Ser1507Cys) rs746246149
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp) rs199848388
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val) rs878854109
NM_000548.5(TSC2):c.4744A>G (p.Ile1582Val)
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu) rs1366814192
NM_000548.5(TSC2):c.476A>T (p.Glu159Val) rs1555497716
NM_000548.5(TSC2):c.4772A>G (p.Lys1591Arg) rs1596439144
NM_000548.5(TSC2):c.4849G>A (p.Ala1617Thr) rs2090791005
NM_000548.5(TSC2):c.4850-5C>G
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val) rs1555516628
NM_000548.5(TSC2):c.4942A>C (p.Ile1648Leu) rs749554579
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val) rs1189857262
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=) rs1567124948
NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp) rs1182240785
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser) rs777223264
NM_000548.5(TSC2):c.5093G>C (p.Ser1698Thr) rs1267700080
NM_000548.5(TSC2):c.5102_5104del (p.Lys1701del)
NM_000548.5(TSC2):c.5119A>C (p.Asn1707His) rs1300582033
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.5174T>C (p.Val1725Ala)
NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu)
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro) rs1596460327
NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala) rs1596460327
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val) rs878854117
NM_000548.5(TSC2):c.5260-18A>G
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.5(TSC2):c.5302G>C (p.Val1768Leu)
NM_000548.5(TSC2):c.5309C>G (p.Pro1770Arg) rs771357054
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val) rs755900742
NM_000548.5(TSC2):c.5391C>G (p.Ile1797Met)
NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.600-2A>T rs45468592
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe) rs878854120
NM_000548.5(TSC2):c.724A>G (p.Thr242Ala)
NM_000548.5(TSC2):c.746T>C (p.Val249Ala) rs1596278719
NM_000548.5(TSC2):c.748A>G (p.Lys250Glu) rs2085894886
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly) rs1596280931
NM_000548.5(TSC2):c.916G>T (p.Ala306Ser)

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