ClinVar Miner

List of variants studied for Tuberous sclerosis 1 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 202
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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.1335A>G (p.Glu445=) rs7862221 0.15974
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.*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.*2354A>G rs114877981 0.00232
NM_000368.5(TSC1):c.*2109C>T rs73552808 0.00200
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.*2904G>T rs559978998 0.00163
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.*3830C>T rs544931538 0.00120
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.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.*677G>C rs189890583 0.00069
NM_000368.5(TSC1):c.*358C>T rs147729052 0.00066
NM_000368.5(TSC1):c.*279T>G rs554637460 0.00061
NM_000368.5(TSC1):c.*1861G>A rs561511694 0.00060
NM_000368.5(TSC1):c.*3997G>A rs148982924 0.00060
NM_000368.5(TSC1):c.*3448C>T rs201092466 0.00056
NM_000368.5(TSC1):c.*4680G>T rs747969932 0.00055
NM_000368.5(TSC1):c.*3565C>T rs771494783 0.00048
NM_000368.5(TSC1):c.*3538A>G rs533324867 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.*116A>G rs181486656 0.00038
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.*3045A>G rs746365344 0.00035
NM_000368.5(TSC1):c.*3988G>A rs563835484 0.00034
NM_000368.5(TSC1):c.*405A>G rs560193480 0.00034
NM_000368.5(TSC1):c.*4447C>T rs112968492 0.00034
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.*2854T>C rs899761882 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
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.*4788A>C rs576342925 0.00021
NM_000368.5(TSC1):c.*1474G>A rs1013551475 0.00019
NM_000368.5(TSC1):c.*2094G>A rs534649062 0.00019
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.*1251C>T rs773490178 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.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000368.5(TSC1):c.*3034T>C rs764220703 0.00015
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.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.*1452A>C rs969974293 0.00011
NM_000368.5(TSC1):c.*499C>T rs530003850 0.00011
NM_000368.5(TSC1):c.*60T>G rs577329896 0.00011
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
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.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000368.5(TSC1):c.*4492T>C rs889436708 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.*2724C>T rs749535135 0.00006
NM_000368.5(TSC1):c.*4254G>A rs139801034 0.00006
NM_000368.5(TSC1):c.*806T>C rs191614777 0.00006
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839 0.00006
NM_000368.5(TSC1):c.*824C>T rs886063613 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.*1508A>G rs552190342 0.00004
NM_000368.5(TSC1):c.*1972A>C rs917117694 0.00004
NM_000368.5(TSC1):c.*2638C>T rs373845353 0.00004
NM_000368.5(TSC1):c.*4515G>A rs886063565 0.00004
NM_000368.5(TSC1):c.*4538A>G rs1036825417 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.*1000A>G rs886063610 0.00003
NM_000368.5(TSC1):c.*1680G>A rs532372427 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562 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.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000368.5(TSC1):c.*1052G>A rs562950766 0.00002
NM_000368.5(TSC1):c.*2515T>C rs886878529 0.00002
NM_000368.5(TSC1):c.*2637C>G rs538802838 0.00002
NM_000368.5(TSC1):c.*2647C>T rs886063595 0.00002
NM_000368.5(TSC1):c.*3272A>G rs866920023 0.00002
NM_000368.5(TSC1):c.*4385G>T rs552453527 0.00002
NM_000368.5(TSC1):c.*448G>A rs886063617 0.00002
NM_000368.5(TSC1):c.*4522C>T rs918338551 0.00002
NM_000368.5(TSC1):c.*941A>G rs189368676 0.00002
NM_000368.5(TSC1):c.-214C>T rs886063628 0.00002
NM_000368.5(TSC1):c.-35G>A rs370122384 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000368.5(TSC1):c.*1215G>A rs1013608610 0.00001
NM_000368.5(TSC1):c.*1349G>A rs1195760994 0.00001
NM_000368.5(TSC1):c.*1970G>A rs886063603 0.00001
NM_000368.5(TSC1):c.*2104A>G rs1019153783 0.00001
NM_000368.5(TSC1):c.*2446A>G rs558966777 0.00001
NM_000368.5(TSC1):c.*249G>A rs1296777494 0.00001
NM_000368.5(TSC1):c.*250G>C rs1309725348 0.00001
NM_000368.5(TSC1):c.*2576T>C rs886063599 0.00001
NM_000368.5(TSC1):c.*2829A>G rs886063591 0.00001
NM_000368.5(TSC1):c.*2890A>G rs946784136 0.00001
NM_000368.5(TSC1):c.*3484A>G rs1335423130 0.00001
NM_000368.5(TSC1):c.*3959T>C rs1445439695 0.00001
NM_000368.5(TSC1):c.*4128G>A rs886063572 0.00001
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.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 0.00001
NM_000368.5(TSC1):c.2556G>C (p.Leu852=) rs770381040 0.00001
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr) rs754457018 0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) rs923543734 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 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.819T>G (p.Asp273Glu) rs148756522 0.00001
NM_000368.5(TSC1):c.*1036C>G rs1844969383
NM_000368.5(TSC1):c.*1050T>C rs530042727
NM_000368.5(TSC1):c.*106A>G rs886063620
NM_000368.5(TSC1):c.*1089G>A rs886063609
NM_000368.5(TSC1):c.*1239C>T rs1350222885
NM_000368.5(TSC1):c.*1355C>A rs749683153
NM_000368.5(TSC1):c.*1507G>A rs739441
NM_000368.5(TSC1):c.*1839G>A rs1170523556
NM_000368.5(TSC1):c.*198T>C rs7037703
NM_000368.5(TSC1):c.*2558A>C rs115516164
NM_000368.5(TSC1):c.*289T>A rs115091888
NM_000368.5(TSC1):c.*2924T>C rs1844864883
NM_000368.5(TSC1):c.*295C>A rs113549339
NM_000368.5(TSC1):c.*295C>G rs113549339
NM_000368.5(TSC1):c.*298A>G rs886063619
NM_000368.5(TSC1):c.*3063A>T rs886063586
NM_000368.5(TSC1):c.*3092T>C rs1844856793
NM_000368.5(TSC1):c.*3170G>A rs367605870
NM_000368.5(TSC1):c.*3238T>C rs886063585
NM_000368.5(TSC1):c.*350G>A rs1845006725
NM_000368.5(TSC1):c.*3648C>T rs113313202
NM_000368.5(TSC1):c.*3685G>A rs1844826893
NM_000368.5(TSC1):c.*3836G>A rs572231078
NM_000368.5(TSC1):c.*4105C>T rs1588276922
NM_000368.5(TSC1):c.*4119T>C rs1844802090
NM_000368.5(TSC1):c.*4356C>T rs886063566
NM_000368.5(TSC1):c.*4763T>C rs79470094
NM_000368.5(TSC1):c.*4826A>C rs886063563
NM_000368.5(TSC1):c.*936T>C rs1170508811
NM_000368.5(TSC1):c.-166A>G rs886063626
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser) rs1845904791
NM_000368.5(TSC1):c.1734C>T (p.Thr578=) rs1251871091
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.5(TSC1):c.1759A>G (p.Lys587Glu) rs397514846
NM_000368.5(TSC1):c.182del (p.Leu61fs)
NM_000368.5(TSC1):c.1997+6G>A rs553762962
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.5(TSC1):c.261A>G (p.Leu87=) rs1407780510
NM_000368.5(TSC1):c.2946A>G (p.Lys982=) rs1845117521
NM_000368.5(TSC1):c.3252A>C (p.Ser1084=) rs886063621
NM_000368.5(TSC1):c.469A>G (p.Ile157Val) rs1846673273
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.5(TSC1):c.915G>C (p.Gly305=) rs397515293

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