ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 342
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HGVS dbSNP
NM_000368.4(TSC1):c.*1000A>G rs886063610
NM_000368.4(TSC1):c.*1050T>C rs530042727
NM_000368.4(TSC1):c.*1052G>A rs562950766
NM_000368.4(TSC1):c.*106A>G rs886063620
NM_000368.4(TSC1):c.*107T>C rs116917669
NM_000368.4(TSC1):c.*1089G>A rs886063609
NM_000368.4(TSC1):c.*1275T>G rs2809244
NM_000368.4(TSC1):c.*1322C>T rs2809243
NM_000368.4(TSC1):c.*1372T>G rs58612431
NM_000368.4(TSC1):c.*1468C>T rs72759433
NM_000368.4(TSC1):c.*1487C>T rs79277527
NM_000368.4(TSC1):c.*1488C>T rs739442
NM_000368.4(TSC1):c.*1507G>A rs739441
NM_000368.4(TSC1):c.*1508A>G rs552190342
NM_000368.4(TSC1):c.*1519C>T rs886063608
NM_000368.4(TSC1):c.*1519del rs886063607
NM_000368.4(TSC1):c.*1541dup rs748099884
NM_000368.4(TSC1):c.*1612C>A rs886063605
NM_000368.4(TSC1):c.*1680G>A rs532372427
NM_000368.4(TSC1):c.*1785A>G rs74362385
NM_000368.4(TSC1):c.*1861G>A rs561511694
NM_000368.4(TSC1):c.*1902T>G rs142038787
NM_000368.4(TSC1):c.*1934A>G rs10491534
NM_000368.4(TSC1):c.*1969T>C rs886063604
NM_000368.4(TSC1):c.*1970G>A rs886063603
NM_000368.4(TSC1):c.*198T>C rs7037703
NM_000368.4(TSC1):c.*2022G>T rs568052856
NM_000368.4(TSC1):c.*2094G>A rs534649062
NM_000368.4(TSC1):c.*2109C>T rs73552808
NM_000368.4(TSC1):c.*2142T>C rs112314368
NM_000368.4(TSC1):c.*2168C>T rs532469694
NM_000368.4(TSC1):c.*2213C>A rs539030496
NM_000368.4(TSC1):c.*2228G>A rs528833042
NM_000368.4(TSC1):c.*2364T>A rs886063602
NM_000368.4(TSC1):c.*2418G>A rs114415181
NM_000368.4(TSC1):c.*2439C>A rs886063601
NM_000368.4(TSC1):c.*2446A>G rs558966777
NM_000368.4(TSC1):c.*2461G>A rs73552806
NM_000368.4(TSC1):c.*2475C>A rs886063600
NM_000368.4(TSC1):c.*2558A>G rs115516164
NM_000368.4(TSC1):c.*2576T>C rs886063599
NM_000368.4(TSC1):c.*2615C>A rs886063598
NM_000368.4(TSC1):c.*2632A>G rs886063597
NM_000368.4(TSC1):c.*2637C>G rs538802838
NM_000368.4(TSC1):c.*2638C>T rs373845353
NM_000368.4(TSC1):c.*2644G>T rs886063596
NM_000368.4(TSC1):c.*2647C>T rs886063595
NM_000368.4(TSC1):c.*2651G>T rs55660990
NM_000368.4(TSC1):c.*2658G>T rs886063594
NM_000368.4(TSC1):c.*2679T>C rs886063593
NM_000368.4(TSC1):c.*2691A>T rs886063592
NM_000368.4(TSC1):c.*2708G>C rs150433809
NM_000368.4(TSC1):c.*2733A>G rs73552805
NM_000368.4(TSC1):c.*279T>G rs554637460
NM_000368.4(TSC1):c.*2829A>G rs886063591
NM_000368.4(TSC1):c.*2872G>A rs2106345
NM_000368.4(TSC1):c.*2874G>A rs111832812
NM_000368.4(TSC1):c.*2893del rs143549363
NM_000368.4(TSC1):c.*2893dup rs143549363
NM_000368.4(TSC1):c.*2897A>G rs886063589
NM_000368.4(TSC1):c.*289del rs11323835
NM_000368.4(TSC1):c.*2904G>T rs559978998
NM_000368.4(TSC1):c.*2949A>T rs886063588
NM_000368.4(TSC1):c.*295C>A rs113549339
NM_000368.4(TSC1):c.*295C>G rs113549339
NM_000368.4(TSC1):c.*298A>G rs886063619
NM_000368.4(TSC1):c.*3047C>A rs886063587
NM_000368.4(TSC1):c.*3063A>T rs886063586
NM_000368.4(TSC1):c.*3238T>C rs886063585
NM_000368.4(TSC1):c.*3239G>T rs886063584
NM_000368.4(TSC1):c.*3240G>T rs886063583
NM_000368.4(TSC1):c.*3248_*3250del rs886063582
NM_000368.4(TSC1):c.*3284C>A rs886063581
NM_000368.4(TSC1):c.*3285G>T rs886063580
NM_000368.4(TSC1):c.*3330G>T rs553475307
NM_000368.4(TSC1):c.*333C>A rs886063618
NM_000368.4(TSC1):c.*3448C>T rs201092466
NM_000368.4(TSC1):c.*3531G>T rs886063579
NM_000368.4(TSC1):c.*3538A>G rs533324867
NM_000368.4(TSC1):c.*3543C>A rs886063578
NM_000368.4(TSC1):c.*3565C>T rs771494783
NM_000368.4(TSC1):c.*358C>T rs147729052
NM_000368.4(TSC1):c.*3658G>A rs886063577
NM_000368.4(TSC1):c.*3679G>A rs1050700
NM_000368.4(TSC1):c.*3729G>T rs543396172
NM_000368.4(TSC1):c.*3737C>A rs886063576
NM_000368.4(TSC1):c.*376C>T rs114064768
NM_000368.4(TSC1):c.*3830C>T rs544931538
NM_000368.4(TSC1):c.*3836G>A rs572231078
NM_000368.4(TSC1):c.*3924G>T rs886063575
NM_000368.4(TSC1):c.*3952A>G rs114454155
NM_000368.4(TSC1):c.*3987A>G rs886063574
NM_000368.4(TSC1):c.*3988G>A rs563835484
NM_000368.4(TSC1):c.*3997G>A rs148982924
NM_000368.4(TSC1):c.*4057G>A rs17149898
NM_000368.4(TSC1):c.*405A>G rs560193480
NM_000368.4(TSC1):c.*4072G>A rs886063573
NM_000368.4(TSC1):c.*4128G>A rs886063572
NM_000368.4(TSC1):c.*4159G>T rs886063571
NM_000368.4(TSC1):c.*4167C>A rs886063570
NM_000368.4(TSC1):c.*4193A>C rs886063569
NM_000368.4(TSC1):c.*4233G>T rs886063568
NM_000368.4(TSC1):c.*4248C>A rs886063567
NM_000368.4(TSC1):c.*4248C>T rs886063567
NM_000368.4(TSC1):c.*4254G>A rs139801034
NM_000368.4(TSC1):c.*4356C>T rs886063566
NM_000368.4(TSC1):c.*4385G>T rs552453527
NM_000368.4(TSC1):c.*4437G>A rs11553763
NM_000368.4(TSC1):c.*4447C>T rs112968492
NM_000368.4(TSC1):c.*448G>A rs886063617
NM_000368.4(TSC1):c.*4515G>A rs886063565
NM_000368.4(TSC1):c.*4622G>A rs886063564
NM_000368.4(TSC1):c.*4631del rs60000611
NM_000368.4(TSC1):c.*4631dup rs60000611
NM_000368.4(TSC1):c.*4763T>C rs79470094
NM_000368.4(TSC1):c.*4826A>C rs886063563
NM_000368.4(TSC1):c.*4845G>T rs886063562
NM_000368.4(TSC1):c.*4898G>A rs79220715
NM_000368.4(TSC1):c.*499C>T rs530003850
NM_000368.4(TSC1):c.*548C>A rs886063616
NM_000368.4(TSC1):c.*583C>A rs886063615
NM_000368.4(TSC1):c.*60T>G rs577329896
NM_000368.4(TSC1):c.*651C>G rs369911288
NM_000368.4(TSC1):c.*677G>C rs189890583
NM_000368.4(TSC1):c.*682C>T rs75252898
NM_000368.4(TSC1):c.*817G>T rs886063614
NM_000368.4(TSC1):c.*824C>T rs886063613
NM_000368.4(TSC1):c.*841C>T rs149902841
NM_000368.4(TSC1):c.*859G>T rs886063612
NM_000368.4(TSC1):c.*913C>T rs117425923
NM_000368.4(TSC1):c.*920C>A rs886063611
NM_000368.4(TSC1):c.*941A>G rs189368676
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-166A>G rs886063626
NM_000368.4(TSC1):c.-174A>T rs886063627
NM_000368.4(TSC1):c.-214C>T rs886063628
NM_000368.4(TSC1):c.-227G>A rs886063629
NM_000368.4(TSC1):c.-242G>T rs571288003
NM_000368.4(TSC1):c.-35G>A rs370122384
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.-80-10T>C rs886063625
NM_000368.4(TSC1):c.-99C>T rs114755636
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1002G>A (p.Ser334=) rs200820603
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.108C>T (p.Asp36=) rs886063624
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1745C>T (p.Thr582Ile) rs886063623
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2626-3_2626-2insTA rs760737807
NM_000368.4(TSC1):c.2626-3del rs886063622
NM_000368.4(TSC1):c.2626-4_2626-3dup rs1554813638
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2965G>T (p.Ala989Ser) rs537585211
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3252A>C (p.Ser1084=) rs886063621
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.*23C>T rs774841226
NM_000548.5(TSC2):c.*26G>A rs13332015
NM_000548.5(TSC2):c.*44T>C rs188991734
NM_000548.5(TSC2):c.*55_*58TAAA[1] rs137854184
NM_000548.5(TSC2):c.*5G>A rs201342697
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.*71C>T rs45498900
NM_000548.5(TSC2):c.*77G>A rs886051799
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000548.5(TSC2):c.-65G>C rs563544506
NM_000548.5(TSC2):c.-85G>C rs540716235
NM_000548.5(TSC2):c.-87A>G rs886051785
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1257+8C>A rs767392684
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1362-9G>A rs763842281
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp) rs886051788
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.5(TSC2):c.1600-13C>G rs1800712
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg) rs775195398
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1836G>A (p.Leu612=) rs758839898
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1947-4G>A rs201633455
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala) rs878854080
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.5(TSC2):c.2097+13G>A rs367915255
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.5(TSC2):c.226-4A>G rs886051786
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile) rs886051790
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.5(TSC2):c.2355+8G>A rs199558375
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.5(TSC2):c.2546-12C>T rs13331451
NM_000548.5(TSC2):c.2546-4G>A rs746958032
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.258G>C (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2838-5G>A rs876660419
NM_000548.5(TSC2):c.2838-6C>T rs528706539
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro) rs886051792
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe) rs886051793
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=) rs557648435
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717
NM_000548.5(TSC2):c.3611-10G>A rs372045362
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp) rs777489742
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=) rs786202178
NM_000548.5(TSC2):c.3815-15G>A rs45480591
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4006-8C>T rs45517325
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=) rs886051794
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795
NM_000548.5(TSC2):c.4849+13G>A rs780953278
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.4990-7C>T rs45457095
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5161-9C>T rs45515893
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5260-15C>T rs45517416
NM_000548.5(TSC2):c.5267A>G (p.Glu1756Gly) rs886051797
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=) rs886051798
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.5(TSC2):c.630G>A (p.Ala210=) rs567756494
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017
NM_000548.5(TSC2):c.848+7G>A rs45442896
NM_000548.5(TSC2):c.849-13G>A rs886051787
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_001162426.2(TSC1):c.2623-21_2623-19dup rs5901000
NM_001162426.2(TSC1):c.2623-4del rs5901000

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