ClinVar Miner

List of variants in gene TSC1 reported by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
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.2865C>T (p.Thr955=) rs45468995 0.00193
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.876C>T (p.Val292=) rs116756594 0.00104
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
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.1163T>C (p.Leu388Pro) rs377598226 0.00041
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.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
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.1264-12T>C rs118203508 0.00025
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.1677C>T (p.Cys559=) rs368317116 0.00021
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.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.2209-3T>C rs368309229 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000368.5(TSC1):c.249C>T (p.Ala83=) rs145783693 0.00013
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln) rs118203692 0.00011
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val) rs756514375 0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000368.5(TSC1):c.851G>A (p.Arg284His) rs151309813 0.00008
NM_000368.5(TSC1):c.1302A>G (p.Arg434=) rs907840461 0.00007
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.1047A>G (p.Pro349=) rs118203492 0.00006
NM_000368.5(TSC1):c.1209G>A (p.Ser403=) rs141184479 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu) rs751247705 0.00006
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839 0.00006
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val) rs372583166 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=) rs201165286 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.946C>T (p.Arg316Trp) rs535868591 0.00005
NM_000368.5(TSC1):c.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1332A>G (p.Ser444=) rs773003016 0.00004
NM_000368.5(TSC1):c.1506C>T (p.Gly502=) rs772337076 0.00004
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 0.00004
NM_000368.5(TSC1):c.1885A>C (p.Lys629Gln) rs865941509 0.00004
NM_000368.5(TSC1):c.2478G>C (p.Leu826=) rs149719514 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) rs759047948 0.00004
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.1721C>G (p.Thr574Ser) rs548002938 0.00003
NM_000368.5(TSC1):c.1922C>A (p.Pro641His) rs397514863 0.00003
NM_000368.5(TSC1):c.2626-4_2626-3insTC rs1554813651 0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) rs560986491 0.00003
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys) rs200398750 0.00003
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val) rs202121327 0.00003
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=) rs201192125 0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys) rs140544652 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.941C>T (p.Thr314Met) rs373454700 0.00003
NM_000368.5(TSC1):c.1224C>T (p.His408=) rs781006583 0.00002
NM_000368.5(TSC1):c.1251A>G (p.Thr417=) rs147127442 0.00002
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg) rs878853959 0.00002
NM_000368.5(TSC1):c.126A>C (p.Val42=) rs118203335 0.00002
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.1290A>G (p.Pro430=) rs759914505 0.00002
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val) rs1489175329 0.00002
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser) rs746304922 0.00002
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) rs377185303 0.00002
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile) rs779584449 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=) rs765753157 0.00002
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr) rs112066743 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.364-7C>T rs775465260 0.00002
NM_000368.5(TSC1):c.531C>T (p.Leu177=) rs752615412 0.00002
NM_000368.5(TSC1):c.720T>G (p.His240Gln) rs779872953 0.00002
NM_000368.5(TSC1):c.-143-8T>C rs1389056966 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1050T>C (p.Ser350=) rs150777389 0.00001
NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu) rs766487204 0.00001
NM_000368.5(TSC1):c.1191A>G (p.Pro397=) rs370281825 0.00001
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe) rs118203334 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000368.5(TSC1):c.135G>A (p.Leu45=) rs149278759 0.00001
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg) rs587778722 0.00001
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp) rs118203342 0.00001
NM_000368.5(TSC1):c.1591G>A (p.Val531Met) rs377279170 0.00001
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 0.00001
NM_000368.5(TSC1):c.1674C>T (p.Pro558=) rs878853962 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 0.00001
NM_000368.5(TSC1):c.1794C>T (p.Ser598=) rs766438395 0.00001
NM_000368.5(TSC1):c.1809G>A (p.Pro603=) rs112434645 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg) rs748901883 0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) rs1269896419 0.00001
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg) rs118203699 0.00001
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr) rs754457018 0.00001
NM_000368.5(TSC1):c.2658A>G (p.Lys886=) rs368212910 0.00001
NM_000368.5(TSC1):c.2781G>A (p.Lys927=) rs118203733 0.00001
NM_000368.5(TSC1):c.2878T>C (p.Leu960=) rs766383986 0.00001
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His) rs767946427 0.00001
NM_000368.5(TSC1):c.2964A>G (p.Ala988=) rs1057520482 0.00001
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) rs764738792 0.00001
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721 0.00001
NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly) rs1490199228 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000368.5(TSC1):c.3135T>C (p.Leu1045=) rs1332702219 0.00001
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=) rs140622357 0.00001
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=) rs754282309 0.00001
NM_000368.5(TSC1):c.331C>T (p.Pro111Ser) rs748669519 0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=) rs568004490 0.00001
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) rs764018144 0.00001
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu) rs767904247 0.00001
NM_000368.5(TSC1):c.376G>A (p.Val126Ile) rs397514843 0.00001
NM_000368.5(TSC1):c.50C>G (p.Pro17Arg) rs1189239082 0.00001
NM_000368.5(TSC1):c.514G>A (p.Val172Met) rs952813051 0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) rs777484049 0.00001
NM_000368.5(TSC1):c.546C>T (p.Ala182=) rs1245007527 0.00001
NM_000368.5(TSC1):c.593A>G (p.Asn198Ser) rs577983115 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000368.5(TSC1):c.72C>T (p.Asp24=) rs376527838 0.00001
NM_000368.5(TSC1):c.738-10C>A rs768158324 0.00001
NM_000368.5(TSC1):c.774G>A (p.Glu258=) rs1554817678 0.00001
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg) rs371225009 0.00001
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys) rs770653972 0.00001
NM_000368.5(TSC1):c.-144+9dup rs896447282
NM_000368.5(TSC1):c.-80-10T>C rs886063625
NM_000368.5(TSC1):c.106G>C (p.Asp36His) rs1847030850
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser) rs1845904238
NM_000368.5(TSC1):c.1309C>G (p.His437Asp) rs985183299
NM_000368.5(TSC1):c.1518C>T (p.Pro506=) rs1588310935
NM_000368.5(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.5(TSC1):c.1586C>T (p.Ala529Val) rs1845645423
NM_000368.5(TSC1):c.1695C>T (p.Ser565=) rs1845634405
NM_000368.5(TSC1):c.1748C>G (p.Pro583Arg) rs2131827057
NM_000368.5(TSC1):c.1830G>A (p.Val610=) rs2131820356
NM_000368.5(TSC1):c.186C>G (p.Thr62=) rs1554820640
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys) rs748733167
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
NM_000368.5(TSC1):c.2042-5A>T rs118203627
NM_000368.5(TSC1):c.2103G>A (p.Gln701=) rs118203639
NM_000368.5(TSC1):c.211-11dup rs397514775
NM_000368.5(TSC1):c.2120T>C (p.Phe707Ser) rs2131766358
NM_000368.5(TSC1):c.21C>G (p.Val7=) rs145987906
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.2479C>T (p.Leu827=) rs2131704085
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro) rs1554814368
NM_000368.5(TSC1):c.2626-10_2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-3C>A rs1060503192
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.2626-6_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-7_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-7_2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-8_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-8_2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-9_2626-4dup rs5901000
NM_000368.5(TSC1):c.2667A>G (p.Glu889=) rs1554813546
NM_000368.5(TSC1):c.2684T>G (p.Val895Gly) rs1845148114
NM_000368.5(TSC1):c.2686C>A (p.Leu896Ile) rs377132822
NM_000368.5(TSC1):c.2748G>C (p.Leu916=) rs1588290553
NM_000368.5(TSC1):c.2841G>T (p.Arg947Ser) rs1417111404
NM_000368.5(TSC1):c.2935GAA[1] (p.Glu980_Glu981del) rs1233796412
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=) rs1588287899
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val) rs747162992
NM_000368.5(TSC1):c.3141C>A (p.Thr1047=) rs892228756
NM_000368.5(TSC1):c.314A>C (p.His105Pro) rs758924121
NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met) rs1167652701
NM_000368.5(TSC1):c.3223C>T (p.Pro1075Ser) rs1845058768
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=) rs2131599043
NM_000368.5(TSC1):c.3316G>A (p.Glu1106Lys) rs2131594768
NM_000368.5(TSC1):c.3345G>C (p.Glu1115Asp) rs751467429
NM_000368.5(TSC1):c.3378T>A (p.Gly1126=) rs2131591124
NM_000368.5(TSC1):c.3426C>T (p.Pro1142=) rs758286878
NM_000368.5(TSC1):c.3452T>A (p.Leu1151Gln) rs2131586553
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg) rs1554812543
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.5(TSC1):c.660C>G (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.773A>T (p.Glu258Val) rs2132004581
NM_000368.5(TSC1):c.792G>A (p.Leu264=) rs1257538409
NM_000368.5(TSC1):c.827C>T (p.Ser276Phe) rs1846012269
NM_000368.5(TSC1):c.846A>G (p.Ser282=) rs768226293
NM_000368.5(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903

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