ClinVar Miner

List of variants in gene TSC1 studied for not specified

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Gene type:
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Total variants: 218
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HGVS dbSNP
NM_000368.4(TSC1):c.*14A>T rs200574927
NM_000368.4(TSC1):c.-11C>T rs570705364
NM_000368.4(TSC1):c.-144+17C>T rs1554823324
NM_000368.4(TSC1):c.-144+7A>T rs563924788
NM_000368.4(TSC1):c.-144+9G>C rs1356563066
NM_000368.4(TSC1):c.-159G>A rs530965070
NM_000368.4(TSC1):c.-16G>A rs114970627
NM_000368.4(TSC1):c.-17C>T rs768441689
NM_000368.4(TSC1):c.-20C>T rs377001111
NM_000368.4(TSC1):c.-33C>T rs796053446
NM_000368.4(TSC1):c.-35G>A rs370122384
NM_000368.4(TSC1):c.-36C>T rs772626361
NM_000368.4(TSC1):c.-44G>A rs773447503
NM_000368.4(TSC1):c.-68C>T rs529212875
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.-80-2A>G rs587778003
NM_000368.4(TSC1):c.-80-5C>T rs1057523300
NM_000368.4(TSC1):c.-99C>T rs114755636
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1002G>A (p.Ser334=) rs200820603
NM_000368.4(TSC1):c.1006C>T (p.Arg336Trp) rs118203483
NM_000368.4(TSC1):c.1029+34C>G rs587778002
NM_000368.4(TSC1):c.1047A>G (p.Pro349=) rs118203492
NM_000368.4(TSC1):c.1051A>G (p.Met351Val) rs781312535
NM_000368.4(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1097C>T (p.Pro366Leu) rs763915012
NM_000368.4(TSC1):c.110G>A (p.Arg37His) rs750441497
NM_000368.4(TSC1):c.1110A>T (p.Ser370=) rs371648887
NM_000368.4(TSC1):c.1113C>T (p.His371=) rs771217333
NM_000368.4(TSC1):c.1142-33A>G rs6597586
NM_000368.4(TSC1):c.1152A>G (p.Lys384=) rs1554817165
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1178C>T (p.Thr393Ile) rs201452238
NM_000368.4(TSC1):c.1191A>G (p.Pro397=) rs370281825
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1248C>T (p.Val416=) rs777823426
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1251A>G (p.Thr417=) rs147127442
NM_000368.4(TSC1):c.1257C>G (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1263+15G>A rs765809001
NM_000368.4(TSC1):c.1263+6_1263+8dup rs751182565
NM_000368.4(TSC1):c.1263+88A>G rs118203507
NM_000368.4(TSC1):c.1264-12T>C rs118203508
NM_000368.4(TSC1):c.1264-9T>C rs1399728684
NM_000368.4(TSC1):c.126A>C (p.Val42=) rs118203335
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.4(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.4(TSC1):c.1333+13C>T rs118203516
NM_000368.4(TSC1):c.1333+14G>A rs371733518
NM_000368.4(TSC1):c.1333+9T>A rs747629498
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1429_1431del (p.Lys477del) rs796053469
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1439-13C>T rs1554816089
NM_000368.4(TSC1):c.1439-37C>T rs10901220
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) rs118203543
NM_000368.4(TSC1):c.1577C>T (p.Ser526Phe) rs1554815996
NM_000368.4(TSC1):c.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.1596C>T (p.Asn532=) rs759461471
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1674C>T (p.Pro558=) rs878853962
NM_000368.4(TSC1):c.1677C>T (p.Cys559=) rs368317116
NM_000368.4(TSC1):c.1685C>G (p.Ala562Gly) rs377185303
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1776G>A (p.Thr592=) rs118203580
NM_000368.4(TSC1):c.1779A>G (p.Arg593=) rs964191879
NM_000368.4(TSC1):c.1802C>T (p.Pro601Leu) rs543077026
NM_000368.4(TSC1):c.1808C>T (p.Pro603Leu) rs751247705
NM_000368.4(TSC1):c.181C>T (p.Leu61=) rs752047592
NM_000368.4(TSC1):c.186C>G (p.Thr62=) rs1554820640
NM_000368.4(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.1998-19T>G rs184408837
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.4(TSC1):c.2034C>T (p.His678=) rs201392975
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.210+13A>G rs759235039
NM_000368.4(TSC1):c.210+16T>G rs1057522568
NM_000368.4(TSC1):c.210+18A>G rs118203349
NM_000368.4(TSC1):c.210+33G>A rs118203350
NM_000368.4(TSC1):c.211-14dup rs397514775
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2149A>C (p.Arg717=) rs1057523194
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.4(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.4(TSC1):c.2208+17G>A rs1057523691
NM_000368.4(TSC1):c.2209-11G>T rs1388387332
NM_000368.4(TSC1):c.2209-14C>T rs1554815062
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2221A>C (p.Lys741Gln) rs587778723
NM_000368.4(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2311A>G (p.Met771Val) rs1057522203
NM_000368.4(TSC1):c.2322G>A (p.Lys774=) rs772038670
NM_000368.4(TSC1):c.2391+14C>T rs757480492
NM_000368.4(TSC1):c.2391+17C>T rs572485175
NM_000368.4(TSC1):c.2392-14G>A rs1057524717
NM_000368.4(TSC1):c.2392-16A>G rs758374143
NM_000368.4(TSC1):c.2392-35T>C rs11243931
NM_000368.4(TSC1):c.2424G>A (p.Ala808=) rs200651872
NM_000368.4(TSC1):c.2425G>C (p.Glu809Gln) rs118203692
NM_000368.4(TSC1):c.2478G>C (p.Leu826=) rs149719514
NM_000368.4(TSC1):c.2499A>G (p.Gln833=) rs1554814615
NM_000368.4(TSC1):c.249C>T (p.Ala83=) rs145783693
NM_000368.4(TSC1):c.2502+18A>C rs200908079
NM_000368.4(TSC1):c.2503-15A>G rs752540347
NM_000368.4(TSC1):c.2505C>T (p.Leu835=) rs112384441
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2625+15G>A rs565234395
NM_000368.4(TSC1):c.2625+19G>A rs200135828
NM_000368.4(TSC1):c.2626-21dup rs5901000
NM_000368.4(TSC1):c.2626-3dup rs1554813639
NM_000368.4(TSC1):c.2626-4T>C rs777386691
NM_000368.4(TSC1):c.2626-5_2626-4delTT rs5901000
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2647G>A (p.Ala883Thr) rs118203721
NM_000368.4(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2700G>A (p.Gln900=) rs560986491
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2896T>C (p.Tyr966His) rs767946427
NM_000368.4(TSC1):c.2898T>C (p.Tyr966=) rs1057522171
NM_000368.4(TSC1):c.2922C>T (p.Leu974=) rs769389702
NM_000368.4(TSC1):c.2924T>A (p.Leu975Gln) rs549467159
NM_000368.4(TSC1):c.2926A>G (p.Lys976Glu) rs796053448
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.2945A>G (p.Lys982Arg) rs1057520508
NM_000368.4(TSC1):c.2964A>G (p.Ala988=) rs1057520482
NM_000368.4(TSC1):c.2975+4G>C rs1057521710
NM_000368.4(TSC1):c.3011T>C (p.Met1004Thr) rs757370776
NM_000368.4(TSC1):c.3045C>T (p.Asn1015=) rs759047948
NM_000368.4(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.4(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461
NM_000368.4(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3112_3114AGC[8] (p.Ser1042_Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3129C>T (p.Ser1043=) rs201192125
NM_000368.4(TSC1):c.3133C>T (p.Leu1045Phe) rs747162992
NM_000368.4(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726
NM_000368.4(TSC1):c.3168_3171delinsGGTG (p.Gly1057Val) rs587778725
NM_000368.4(TSC1):c.3169G>A (p.Gly1057Ser) rs587778727
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3194C>T (p.Thr1065Met) rs753388676
NM_000368.4(TSC1):c.3195G>A (p.Thr1065=) rs118203746
NM_000368.4(TSC1):c.3210G>A (p.Ala1070=) rs201165286
NM_000368.4(TSC1):c.3240A>G (p.Ser1080=) rs1554812759
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3300C>T (p.Ser1100=) rs754282309
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.4(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3329C>G (p.Thr1110Ser) rs952996030
NM_000368.4(TSC1):c.3336C>T (p.Ser1112=) rs761334590
NM_000368.4(TSC1):c.3381G>A (p.Val1127=) rs773586317
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3397C>T (p.Leu1133=) rs1244090738
NM_000368.4(TSC1):c.3405A>G (p.Leu1135=) rs568004490
NM_000368.4(TSC1):c.340C>T (p.Pro114Ser) rs779395169
NM_000368.4(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.4(TSC1):c.3420G>A (p.Pro1140=) rs763931959
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.402G>A (p.Leu134=) rs147125501
NM_000368.4(TSC1):c.42G>A (p.Leu14=) rs762233181
NM_000368.4(TSC1):c.508+18T>C rs1057522667
NM_000368.4(TSC1):c.509-15G>A rs118203391
NM_000368.4(TSC1):c.513C>T (p.His171=) rs377196837
NM_000368.4(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.552G>C (p.Val184=) rs118203397
NM_000368.4(TSC1):c.555C>T (p.Tyr185=) rs118203398
NM_000368.4(TSC1):c.598G>A (p.Val200Ile) rs118203410
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000368.4(TSC1):c.72C>T (p.Asp24=) rs376527838
NM_000368.4(TSC1):c.737+13G>A rs1057522693
NM_000368.4(TSC1):c.738-10C>A rs768158324
NM_000368.4(TSC1):c.738-20A>G rs397514824
NM_000368.4(TSC1):c.810A>G (p.Ser270=) rs142336706
NM_000368.4(TSC1):c.853T>G (p.Phe285Val) rs377076733
NM_000368.4(TSC1):c.862C>T (p.Arg288Cys) rs770653972
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.89A>G (p.Lys30Arg) rs796053452
NM_000368.4(TSC1):c.913+8G>C rs763784439
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.954_956GTT[1] (p.Leu320del) rs755655903
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000368.4(TSC1):c.997C>T (p.Pro333Ser) rs1057520994
NM_001162426.2(TSC1):c.2623-4del rs5901000
NM_001162426.2(TSC1):c.568C>T (p.Arg190Cys) rs118203400

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