ClinVar Miner

List of variants in gene TSC1 studied for not specified

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Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
NM_000368.5(TSC1):c.1439-37C>T rs10901220 0.16021
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_000368.5(TSC1):c.1142-33A>G rs6597586 0.15388
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000368.5(TSC1):c.210+33G>A rs118203350 0.00695
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_000368.5(TSC1):c.-99C>T rs114755636 0.00347
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.1263+88A>G rs118203507 0.00250
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00187
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00104
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_000368.5(TSC1):c.-68C>T rs529212875 0.00070
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000368.5(TSC1):c.2505C>T (p.Leu835=) rs112384441 0.00039
NM_000368.5(TSC1):c.1998-19T>G rs184408837 0.00037
NM_000368.5(TSC1):c.2625+19G>A rs200135828 0.00037
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000368.5(TSC1):c.810A>G (p.Ser270=) rs142336706 0.00025
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp) rs118203483 0.00022
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000368.5(TSC1):c.1333+14G>A rs371733518 0.00016
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val) rs397514880 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000368.5(TSC1):c.1333+13C>T rs118203516 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000368.5(TSC1):c.2502+18A>C rs200908079 0.00013
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.210+18A>G rs118203349 0.00011
NM_000368.5(TSC1):c.-16G>A rs114970627 0.00010
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779 0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 0.00008
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.2209-9C>G rs118203660 0.00007
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 0.00007
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.2391+14C>T rs757480492 0.00005
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 0.00005
NM_000368.5(TSC1):c.402G>A (p.Leu134=) rs147125501 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000368.5(TSC1):c.853T>G (p.Phe285Val) rs377076733 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00004
NM_000368.5(TSC1):c.1141+10T>C rs367601694 0.00004
NM_000368.5(TSC1):c.1263+15G>A rs765809001 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) rs759047948 0.00004
NM_000368.5(TSC1):c.738-20A>G rs397514824 0.00004
NM_000368.5(TSC1):c.-11C>T rs570705364 0.00003
NM_000368.5(TSC1):c.-80-2A>G rs587778003 0.00003
NM_000368.5(TSC1):c.1113C>T (p.His371=) rs771217333 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr) rs751125011 0.00003
NM_000368.5(TSC1):c.2503-15A>G rs752540347 0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) rs560986491 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00003
NM_000368.5(TSC1):c.-35G>A rs370122384 0.00002
NM_000368.5(TSC1):c.1251A>G (p.Thr417=) rs147127442 0.00002
NM_000368.5(TSC1):c.126A>C (p.Val42=) rs118203335 0.00002
NM_000368.5(TSC1):c.1584C>T (p.Gly528=) rs149439187 0.00002
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) rs377185303 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 0.00002
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00002
NM_000368.5(TSC1):c.2322G>A (p.Lys774=) rs772038670 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=) rs749995749 0.00002
NM_000368.5(TSC1):c.340C>T (p.Pro114Ser) rs779395169 0.00002
NM_000368.5(TSC1):c.379G>A (p.Val127Ile) rs372215435 0.00002
NM_000368.5(TSC1):c.-144+7A>T rs563924788 0.00001
NM_000368.5(TSC1):c.-17C>T rs768441689 0.00001
NM_000368.5(TSC1):c.-20C>T rs377001111 0.00001
NM_000368.5(TSC1):c.-44G>A rs773447503 0.00001
NM_000368.5(TSC1):c.1029+34C>G rs587778002 0.00001
NM_000368.5(TSC1):c.1059T>C (p.Cys353=) rs1216537041 0.00001
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu) rs763915012 0.00001
NM_000368.5(TSC1):c.1191A>G (p.Pro397=) rs370281825 0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000368.5(TSC1):c.1248C>T (p.Val416=) rs777823426 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1263+6_1263+8dup rs751182565 0.00001
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg) rs587778722 0.00001
NM_000368.5(TSC1):c.1429_1431del (p.Lys477del) rs796053469 0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000368.5(TSC1):c.1596C>T (p.Asn532=) rs759461471 0.00001
NM_000368.5(TSC1):c.1674C>T (p.Pro558=) rs878853962 0.00001
NM_000368.5(TSC1):c.1779A>G (p.Arg593=) rs964191879 0.00001
NM_000368.5(TSC1):c.1794C>T (p.Ser598=) rs766438395 0.00001
NM_000368.5(TSC1):c.181C>T (p.Leu61=) rs752047592 0.00001
NM_000368.5(TSC1):c.210+13A>G rs759235039 0.00001
NM_000368.5(TSC1):c.2209-14C>T rs1554815062 0.00001
NM_000368.5(TSC1):c.2391+17C>T rs572485175 0.00001
NM_000368.5(TSC1):c.2392-14G>A rs1057524717 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_000368.5(TSC1):c.2625+15G>A rs565234395 0.00001
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His) rs767946427 0.00001
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr) rs757370776 0.00001
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001 0.00001
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726 0.00001
NM_000368.5(TSC1):c.3169G>A (p.Gly1057Ser) rs587778727 0.00001
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=) rs754282309 0.00001
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753 0.00001
NM_000368.5(TSC1):c.3381G>A (p.Val1127=) rs773586317 0.00001
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=) rs568004490 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000368.5(TSC1):c.508+18T>C rs1057522667 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=) rs766250769 0.00001
NM_000368.5(TSC1):c.*14A>T rs200574927
NM_000368.5(TSC1):c.-144+17C>T rs1554823324
NM_000368.5(TSC1):c.-144+9G>C rs1356563066
NM_000368.5(TSC1):c.-159G>A rs530965070
NM_000368.5(TSC1):c.-33C>T rs796053446
NM_000368.5(TSC1):c.-80-10T>C rs886063625
NM_000368.5(TSC1):c.1030-5C>T rs1588323218
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu) rs1845926660
NM_000368.5(TSC1):c.1152A>G (p.Lys384=) rs1554817165
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.5(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.5(TSC1):c.1333+9T>A rs747629498
NM_000368.5(TSC1):c.1439-13C>T rs1554816089
NM_000368.5(TSC1):c.1577C>T (p.Ser526Phe) rs1554815996
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu) rs118203565
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu) rs543077026
NM_000368.5(TSC1):c.186C>G (p.Thr62=) rs1554820640
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.5(TSC1):c.2041+6_2041+7dup rs1845540759
NM_000368.5(TSC1):c.210+16T>G rs1057522568
NM_000368.5(TSC1):c.211-11dup rs397514775
NM_000368.5(TSC1):c.2149A>C (p.Arg717=) rs1057523194
NM_000368.5(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.5(TSC1):c.2208+17G>A rs1057523691
NM_000368.5(TSC1):c.2209-11G>T rs1388387332
NM_000368.5(TSC1):c.2221A>C (p.Lys741Gln) rs587778723
NM_000368.5(TSC1):c.2311A>G (p.Met771Val) rs1057522203
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095
NM_000368.5(TSC1):c.2499A>G (p.Gln833=) rs1554814615
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-3dup rs1554813639
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.5(TSC1):c.2898T>C (p.Tyr966=) rs1057522171
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) rs796053448
NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg) rs1057520508
NM_000368.5(TSC1):c.2975+4G>C rs1057521710
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe) rs747162992
NM_000368.5(TSC1):c.3168_3171delinsGGTG (p.Gly1057Val) rs587778725
NM_000368.5(TSC1):c.3240A>G (p.Ser1080=) rs1554812759
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser) rs952996030
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=) rs761334590
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.5(TSC1):c.42G>A (p.Leu14=) rs762233181
NM_000368.5(TSC1):c.444A>G (p.Lys148=) rs2132189552
NM_000368.5(TSC1):c.509-15G>A rs118203391
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.5(TSC1):c.558A>G (p.Ala186=) rs2132158268
NM_000368.5(TSC1):c.642G>A (p.Glu214=)
NM_000368.5(TSC1):c.737+13G>A rs1057522693
NM_000368.5(TSC1):c.738-16T>C rs2132008163
NM_000368.5(TSC1):c.913+8G>C rs763784439
NM_000368.5(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser) rs1057520994

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