ClinVar Miner

List of variants in gene TSC1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1334-174T>C rs117147322 0.02265
NM_000368.5(TSC1):c.737+283A>G rs117521590 0.01556
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.2975+127G>T rs113469460 0.01246
NM_000368.5(TSC1):c.211-157G>A rs150221955 0.01035
NM_000368.5(TSC1):c.1264-184T>C rs45467998 0.00924
NM_000368.5(TSC1):c.2392-222C>T rs141011030 0.00908
NM_000368.5(TSC1):c.2391+34G>A rs116518821 0.00903
NM_000368.5(TSC1):c.1333+187A>G rs114683952 0.00894
NM_000368.5(TSC1):c.738-3141A>C rs111801465 0.00864
NM_000368.5(TSC1):c.210+33G>A rs118203350 0.00695
NM_000368.5(TSC1):c.508+99T>C rs138277642 0.00645
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.211-286T>C rs9942877 0.00462
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.1997+133A>G rs190614659 0.00444
NM_000368.5(TSC1):c.2625+75A>T rs73660291 0.00406
NC_000009.12:g.132944713A>G rs115132103 0.00404
NM_000368.5(TSC1):c.107-113_107-112del rs527611975 0.00401
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000368.5(TSC1):c.106+187G>T rs79398892 0.00270
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NC_000009.12:g.132944772C>T rs538491949 0.00202
NM_000368.5(TSC1):c.*2109C>T rs73552808 0.00200
NM_000368.5(TSC1):c.*2904G>T rs559978998 0.00163
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.*3830C>T rs544931538 0.00120
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.*358C>T rs147729052 0.00066
NM_000368.5(TSC1):c.*4680G>T rs747969932 0.00055
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.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000368.5(TSC1):c.*3988G>A rs563835484 0.00034
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.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.1700C>T (p.Ala567Val) rs397514880 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 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.2502+18A>C rs200908079 0.00013
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr) rs118203721 0.00012
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala) rs893232039 0.00012
NM_000368.5(TSC1):c.210+18A>G rs118203349 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.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.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000368.5(TSC1):c.1051A>G (p.Met351Val) rs781312535 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.1178C>T (p.Thr393Ile) rs201452238 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.513C>T (p.His171=) rs377196837 0.00006
NM_000368.5(TSC1):c.-36C>T rs772626361 0.00005
NM_000368.5(TSC1):c.1110A>T (p.Ser370=) rs371648887 0.00005
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.3419C>T (p.Pro1140Leu) rs751126355 0.00005
NM_000368.5(TSC1):c.479G>A (p.Arg160His) rs749979841 0.00005
NM_000368.5(TSC1):c.73G>A (p.Val25Met) rs1230244328 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000368.5(TSC1):c.*2638C>T rs373845353 0.00004
NM_000368.5(TSC1):c.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1264-9T>C rs1399728684 0.00004
NM_000368.5(TSC1):c.1332A>G (p.Ser444=) rs773003016 0.00004
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 0.00004
NM_000368.5(TSC1):c.1974C>T (p.Asp658=) rs118203608 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 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.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.1317G>C (p.Leu439=) rs770692313 0.00003
NM_000368.5(TSC1):c.1439-4T>C rs762473323 0.00003
NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser) rs548002938 0.00003
NM_000368.5(TSC1):c.1878G>A (p.Glu626=) rs753424167 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.3249T>C (p.Ser1083=) rs761673589 0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.663+35T>C rs556038860 0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) rs755859330 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.942G>A (p.Thr314=) rs144208203 0.00003
NM_000368.5(TSC1):c.-80-5C>T rs1057523300 0.00002
NM_000368.5(TSC1):c.1020A>G (p.Glu340=) rs760233114 0.00002
NM_000368.5(TSC1):c.111T>C (p.Arg37=) rs966292723 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.1328G>T (p.Gly443Val) rs1489175329 0.00002
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) rs377185303 0.00002
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) rs202241429 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461 0.00002
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr) rs112066743 0.00002
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=) rs1244090738 0.00002
NM_000368.5(TSC1):c.375C>T (p.Asp125=) rs560863078 0.00002
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) rs796053452 0.00002
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000368.5(TSC1):c.-156G>A rs1219710576 0.00001
NM_000368.5(TSC1):c.1050T>C (p.Ser350=) rs150777389 0.00001
NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala) rs201738258 0.00001
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) rs397514864 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) rs371093730 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.1550G>A (p.Arg517Gln) rs371908551 0.00001
NM_000368.5(TSC1):c.1716C>T (p.Cys572=) rs752202276 0.00001
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met) rs775869914 0.00001
NM_000368.5(TSC1):c.1776G>A (p.Thr592=) rs118203580 0.00001
NM_000368.5(TSC1):c.1794C>T (p.Ser598=) rs766438395 0.00001
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg) rs761959210 0.00001
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg) rs748901883 0.00001
NM_000368.5(TSC1):c.2064C>T (p.Ile688=) rs878853963 0.00001
NM_000368.5(TSC1):c.211-11T>C rs1258774658 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg) rs118203699 0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) rs547498792 0.00001
NM_000368.5(TSC1):c.2556G>C (p.Leu852=) rs770381040 0.00001
NM_000368.5(TSC1):c.2658A>G (p.Lys886=) rs368212910 0.00001
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile) rs1060503217 0.00001
NM_000368.5(TSC1):c.2964A>G (p.Ala988=) rs1057520482 0.00001
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg) rs1242948205 0.00001
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726 0.00001
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met) rs753388676 0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) rs878853966 0.00001
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439 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.3356C>T (p.Thr1119Ile) rs775420987 0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) rs1157060310 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.376G>A (p.Val126Ile) rs397514843 0.00001
NM_000368.5(TSC1):c.378C>T (p.Val126=) rs373173550 0.00001
NM_000368.5(TSC1):c.397G>A (p.Val133Ile) rs118203381 0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.514G>A (p.Val172Met) rs952813051 0.00001
NM_000368.5(TSC1):c.555C>T (p.Tyr185=) rs118203398 0.00001
NM_000368.5(TSC1):c.61G>T (p.Val21Leu) rs1392596033 0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=) rs766250769 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.772G>A (p.Glu258Lys) rs118203450 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.*1355C>A rs749683153
NM_000368.5(TSC1):c.*295C>A rs113549339
NM_000368.5(TSC1):c.*295C>G rs113549339
NM_000368.5(TSC1):c.*3833C>A
NM_000368.5(TSC1):c.-5A>G rs1323766758
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.107-7G>A rs775150962
NM_000368.5(TSC1):c.1209G>T (p.Ser403=) rs141184479
NM_000368.5(TSC1):c.1263+248_1263+251dup rs10712193
NM_000368.5(TSC1):c.1263+248dup rs10712193
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.1438+164_1438+167dup rs11349075
NM_000368.5(TSC1):c.1438+270T>C rs143422206
NM_000368.5(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.5(TSC1):c.1632G>T (p.Gly544=) rs1588310249
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1833A>G (p.Ala611=) rs1240702401
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.211-11dup rs397514775
NM_000368.5(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.5(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) rs754248661
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095
NM_000368.5(TSC1):c.2448G>A (p.Lys816=) rs1588299142
NM_000368.5(TSC1):c.2503-139dup rs201114032
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=) rs753980869
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=) rs2131612277
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
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.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val) rs747162992
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg) rs1554812543
NM_000368.5(TSC1):c.664-10A>C rs1588345946
NM_000368.5(TSC1):c.801A>G (p.Thr267=) rs2132002475
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.5(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.939C>T (p.Ser313=) rs1588324777
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
TSC1:c.1142-22_1142-21del rs118203500

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