ClinVar Miner

List of variants in gene TSC1 reported as benign for Tuberous sclerosis 1

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Gene type:
ClinVar version:
Total variants: 391
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.*1275T>G rs2809244 0.74384
NM_000368.5(TSC1):c.*3679G>A rs1050700 0.68068
NM_000368.5(TSC1):c.*1322C>T rs2809243 0.54889
NM_000368.5(TSC1):c.*1488C>T rs739442 0.43524
NM_000368.5(TSC1):c.*1372T>G rs58612431 0.26140
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
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.*1934A>G rs10491534 0.14325
NM_000368.5(TSC1):c.*4437G>A rs11553763 0.11942
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.*2651G>T rs55660990 0.04112
NM_000368.5(TSC1):c.*913C>T rs117425923 0.03547
NM_000368.5(TSC1):c.*1487C>T rs79277527 0.02671
NM_000368.5(TSC1):c.*682C>T rs75252898 0.02584
NM_000368.5(TSC1):c.*2558A>G rs115516164 0.02571
NM_000368.5(TSC1):c.*376C>T rs114064768 0.02541
NM_000368.5(TSC1):c.*107T>C rs116917669 0.02353
NM_000368.5(TSC1):c.*1468C>T rs72759433 0.01681
NM_000368.5(TSC1):c.*1785A>G rs74362385 0.01398
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.-129A>T rs116951280 0.01206
NM_000368.5(TSC1):c.*2418G>A rs114415181 0.01175
NM_000368.5(TSC1):c.*4057G>A rs17149898 0.01133
NM_000368.5(TSC1):c.*841C>T rs149902841 0.01013
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.*2872G>A rs2106345 0.00508
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.*3952A>G rs114454155 0.00436
NM_000368.5(TSC1):c.*2461G>A rs73552806 0.00396
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.*3729G>T rs543396172 0.00309
NM_000368.5(TSC1):c.*1902T>G rs142038787 0.00285
NM_000368.5(TSC1):c.*2708G>C rs150433809 0.00280
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.2626-3_2626-2insTT rs760737807 0.00242
NM_000368.5(TSC1):c.*2354A>G rs114877981 0.00232
NM_000368.5(TSC1):c.*1127C>T rs139119563 0.00194
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.*2733A>G rs73552805 0.00162
NM_000368.5(TSC1):c.*2874G>A rs111832812 0.00158
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.*2142T>C rs112314368 0.00135
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.1526G>A (p.Arg509Gln) rs118203543 0.00070
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.*3448C>T rs201092466 0.00056
NM_000368.5(TSC1):c.*3538A>G rs533324867 0.00041
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.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.*405A>G rs560193480 0.00034
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.737+20A>G rs764271835 0.00031
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.2626-4T>C rs777386691 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.2653C>T (p.Arg885Trp) rs118203723 0.00025
NM_000368.5(TSC1):c.810A>G (p.Ser270=) rs142336706 0.00025
NM_000368.5(TSC1):c.*2628G>C rs189852768 0.00024
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.*4788A>C rs576342925 0.00021
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.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.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.3024T>G (p.Asn1008Lys) rs142954164 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.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.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.1567G>C (p.Ala523Pro) rs118203548 0.00008
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.851G>A (p.Arg284His) rs151309813 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.*2168C>T rs532469694 0.00006
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.513C>T (p.His171=) rs377196837 0.00006
NM_000368.5(TSC1):c.625A>G (p.Met209Val) rs754980229 0.00006
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.231C>T (p.Asn77=) rs397514809 0.00005
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 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.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.946C>T (p.Arg316Trp) rs535868591 0.00005
NM_000368.5(TSC1):c.1141+10T>C rs367601694 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.1506C>T (p.Gly502=) rs772337076 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.3402C>T (p.Asn1134=) rs769266225 0.00004
NM_000368.5(TSC1):c.912T>C (p.Tyr304=) rs118203466 0.00004
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln) rs397514808 0.00003
NM_000368.5(TSC1):c.1113C>T (p.His371=) rs771217333 0.00003
NM_000368.5(TSC1):c.114C>G (p.Gly38=) rs776158461 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000368.5(TSC1):c.1317G>C (p.Leu439=) rs770692313 0.00003
NM_000368.5(TSC1):c.1344T>G (p.Pro448=) rs530908428 0.00003
NM_000368.5(TSC1):c.1439-4T>C rs762473323 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.1888A>C (p.Lys630Gln) rs1158059433 0.00003
NM_000368.5(TSC1):c.1922C>A (p.Pro641His) rs397514863 0.00003
NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg) rs1396314595 0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) rs560986491 0.00003
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046 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.3112A>G (p.Ser1038Gly) rs768443391 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.65G>A (p.Arg22Gln) rs141736779 0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) rs755859330 0.00003
NM_000368.5(TSC1):c.798C>T (p.Pro266=) rs770704462 0.00003
NM_000368.5(TSC1):c.840A>G (p.Gln280=) rs1171852730 0.00003
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys) rs140544652 0.00003
NM_000368.5(TSC1):c.*1052G>A rs562950766 0.00002
NM_000368.5(TSC1):c.*4385G>T rs552453527 0.00002
NM_000368.5(TSC1):c.1020A>G (p.Glu340=) rs760233114 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.1528G>A (p.Asp510Asn) rs779206386 0.00002
NM_000368.5(TSC1):c.1584C>T (p.Gly528=) rs149439187 0.00002
NM_000368.5(TSC1):c.1636G>T (p.Asp546Tyr) rs774671298 0.00002
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser) rs746304922 0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) rs750512029 0.00002
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) rs377185303 0.00002
NM_000368.5(TSC1):c.1809G>T (p.Pro603=) rs112434645 0.00002
NM_000368.5(TSC1):c.1848C>T (p.Ala616=) rs752286096 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 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.210+5T>C rs753035149 0.00002
NM_000368.5(TSC1):c.2303G>A (p.Arg768His) rs1033725987 0.00002
NM_000368.5(TSC1):c.2322G>A (p.Lys774=) rs772038670 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly) rs760762170 0.00002
NM_000368.5(TSC1):c.2901C>T (p.Gly967=) rs774634388 0.00002
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=) rs765753157 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.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=) rs749995749 0.00002
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu) rs1442514678 0.00002
NM_000368.5(TSC1):c.3266G>C (p.Gly1089Ala) rs762845573 0.00002
NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser) rs760918561 0.00002
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=) rs774980129 0.00002
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=) rs1244090738 0.00002
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala) rs745871522 0.00002
NM_000368.5(TSC1):c.375C>T (p.Asp125=) rs560863078 0.00002
NM_000368.5(TSC1):c.379G>A (p.Val127Ile) rs372215435 0.00002
NM_000368.5(TSC1):c.531C>T (p.Leu177=) rs752615412 0.00002
NM_000368.5(TSC1):c.542A>T (p.His181Leu) rs397515294 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.69C>T (p.Asp23=) rs769282604 0.00002
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) rs796053452 0.00002
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr) rs752290177 0.00002
NM_000368.5(TSC1):c.930C>T (p.Thr310=) rs759004332 0.00002
NM_000368.5(TSC1):c.*651C>G rs369911288 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 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.1096C>G (p.Pro366Ala) rs1041988929 0.00001
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu) rs763915012 0.00001
NM_000368.5(TSC1):c.1116T>C (p.Pro372=) rs1311647964 0.00001
NM_000368.5(TSC1):c.1191A>G (p.Pro397=) rs370281825 0.00001
NM_000368.5(TSC1):c.1196C>T (p.Pro399Leu) rs761014195 0.00001
NM_000368.5(TSC1):c.1200C>G (p.Leu400=) rs767514820 0.00001
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728 0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000368.5(TSC1):c.1232T>A (p.Leu411His) rs140410001 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.1263+6_1263+8dup rs751182565 0.00001
NM_000368.5(TSC1):c.130A>G (p.Thr44Ala) rs1399266964 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000368.5(TSC1):c.133T>C (p.Leu45=) rs755226092 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.153A>C (p.Glu51Asp) rs118203342 0.00001
NM_000368.5(TSC1):c.1574G>C (p.Ser525Thr) rs750784794 0.00001
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg) rs767708806 0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000368.5(TSC1):c.1591G>A (p.Val531Met) rs377279170 0.00001
NM_000368.5(TSC1):c.1596C>T (p.Asn532=) rs759461471 0.00001
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 0.00001
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser) rs1330089369 0.00001
NM_000368.5(TSC1):c.1674C>T (p.Pro558=) rs878853962 0.00001
NM_000368.5(TSC1):c.1772C>T (p.Pro591Leu) rs768985094 0.00001
NM_000368.5(TSC1):c.1776G>A (p.Thr592=) rs118203580 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.1795G>A (p.Gly599Arg) rs761959210 0.00001
NM_000368.5(TSC1):c.1809G>A (p.Pro603=) rs112434645 0.00001
NM_000368.5(TSC1):c.1818T>A (p.His606Gln) rs758769193 0.00001
NM_000368.5(TSC1):c.195A>G (p.Gln65=) rs764523181 0.00001
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr) rs914628341 0.00001
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341 0.00001
NM_000368.5(TSC1):c.2066G>A (p.Arg689His) rs200827913 0.00001
NM_000368.5(TSC1):c.2196T>C (p.His732=) rs776441369 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) rs776386313 0.00001
NM_000368.5(TSC1):c.2307C>T (p.Asp769=) rs876658671 0.00001
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) rs760208449 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_000368.5(TSC1):c.2394G>A (p.Thr798=) rs1060504860 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.2577C>T (p.Asn859=) rs781553258 0.00001
NM_000368.5(TSC1):c.2604C>T (p.Asn868=) rs147163264 0.00001
NM_000368.5(TSC1):c.2626-5T>C rs1444272064 0.00001
NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys) rs1449821288 0.00001
NM_000368.5(TSC1):c.2658A>G (p.Lys886=) rs368212910 0.00001
NM_000368.5(TSC1):c.2766T>G (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr) rs751362258 0.00001
NM_000368.5(TSC1):c.2964A>G (p.Ala988=) rs1057520482 0.00001
NM_000368.5(TSC1):c.2982C>T (p.Asp994=) rs199919348 0.00001
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) rs764738792 0.00001
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu) rs796053449 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726 0.00001
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747 0.00001
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met) rs753388676 0.00001
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899 0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) rs878853966 0.00001
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=) rs140622357 0.00001
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val) rs776694051 0.00001
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His) rs118203750 0.00001
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=) rs754282309 0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753 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.3381G>A (p.Val1127=) rs773586317 0.00001
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val) rs772233665 0.00001
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=) rs568004490 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=) rs745475737 0.00001
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) rs764018144 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 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.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) rs777484049 0.00001
NM_000368.5(TSC1):c.51C>G (p.Pro17=) rs768175095 0.00001
NM_000368.5(TSC1):c.524T>C (p.Val175Ala) rs1415895533 0.00001
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209 0.00001
NM_000368.5(TSC1):c.555C>T (p.Tyr185=) rs118203398 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.772G>A (p.Glu258Lys) rs118203450 0.00001
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg) rs371225009 0.00001
NM_000368.5(TSC1):c.830T>C (p.Val277Ala) rs200749357 0.00001
NM_000368.5(TSC1):c.859C>T (p.His287Tyr) rs1278022127 0.00001
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys) rs770653972 0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) rs370916731 0.00001
NM_000368.5(TSC1):c.*1507G>A rs739441
NM_000368.5(TSC1):c.*198T>C rs7037703
NM_000368.5(TSC1):c.*295C>G rs113549339
NM_000368.5(TSC1):c.*4763T>C rs79470094
NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser)
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.5(TSC1):c.106+10del
NM_000368.5(TSC1):c.1209G>T (p.Ser403=) rs141184479
NM_000368.5(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.5(TSC1):c.1333+6del rs1060503212
NM_000368.5(TSC1):c.1333+9T>A rs747629498
NM_000368.5(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu) rs946491568
NM_000368.5(TSC1):c.1503A>C (p.Gly501=) rs201810746
NM_000368.5(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.5(TSC1):c.1569C>T (p.Ala523=) rs1234835402
NM_000368.5(TSC1):c.1611C>T (p.His537=) rs898271020
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1749C>T (p.Pro583=) rs876659216
NM_000368.5(TSC1):c.176A>T (p.His59Leu) rs757837986
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln) rs768985094
NM_000368.5(TSC1):c.2022C>G (p.Val674=) rs118203618
NM_000368.5(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.5(TSC1):c.211-11dup rs397514775
NM_000368.5(TSC1):c.2149A>C (p.Arg717=) rs1057523194
NM_000368.5(TSC1):c.2187G>A (p.Leu729=)
NM_000368.5(TSC1):c.2195A>G (p.His732Arg) rs878853964
NM_000368.5(TSC1):c.21C>G (p.Val7=) rs145987906
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.2412G>A (p.Arg804=) rs1554814676
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly) rs397514814
NM_000368.5(TSC1):c.2448G>A (p.Lys816=) rs1588299142
NM_000368.5(TSC1):c.2499A>G (p.Gln833=) rs1554814615
NM_000368.5(TSC1):c.2503-7del
NM_000368.5(TSC1):c.2508A>C (p.Ser836=) rs1554814456
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.2626-6T>C
NM_000368.5(TSC1):c.2667A>G (p.Glu889=) rs1554813546
NM_000368.5(TSC1):c.2748G>C (p.Leu916=) rs1588290553
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.3068C>T (p.Pro1023Leu) rs1554812917
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del) rs2234980
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[9] (p.Ser1041_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.3159C>T (p.His1053=) rs778413037
NM_000368.5(TSC1):c.3303G>T (p.Glu1101Asp) rs118203751
NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn) rs1060503226
NM_000368.5(TSC1):c.33T>C (p.Leu11=) rs1329395556
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.3429G>C (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.42G>A (p.Leu14=) rs762233181
NM_000368.5(TSC1):c.435G>T (p.Gln145His) rs1195580419
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.5(TSC1):c.549T>C (p.Ser183=) rs774398322
NM_000368.5(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.5(TSC1):c.660C>T (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709
NM_000368.5(TSC1):c.737+13G>A rs1057522693
NM_000368.5(TSC1):c.765T>G (p.Val255=) rs1588327624
NM_000368.5(TSC1):c.870C>G (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.882C>T (p.Thr294=) rs1588326689
NM_000368.5(TSC1):c.913+8G>C rs763784439
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.915G>T (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.920C>T (p.Ala307Val) rs572611259
NM_000368.5(TSC1):c.967C>A (p.Pro323Thr) rs781189978
NM_000368.5(TSC1):c.973C>G (p.Gln325Glu) rs118203474

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