ClinVar Miner

List of variants in gene TSC1 studied for not provided

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Gene type:
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Total variants: 228
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HGVS dbSNP
NC_000009.12:g.132904406del
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-144G>A rs796053468
NM_000368.4(TSC1):c.-156G>A
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1029+2T>C rs1554817336
NM_000368.4(TSC1):c.1030-14T>A rs180810228
NM_000368.4(TSC1):c.1038T>C (p.Leu346=) rs753360364
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.107-1G>A rs1064793494
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1109C>T (p.Ser370Leu) rs796053457
NM_000368.4(TSC1):c.1125dup (p.Val376fs) rs1554817227
NM_000368.4(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512
NM_000368.4(TSC1):c.1152del (p.Gly385fs) rs118203501
NM_000368.4(TSC1):c.1157del (p.Thr386fs) rs1554817164
NM_000368.4(TSC1):c.1160_1161CT[1] (p.Leu388fs) rs1064793844
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1165G>T (p.Gly389Ter) rs886041524
NM_000368.4(TSC1):c.1198_1199CT[1] (p.Cys401fs) rs1554817140
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1209G>T (p.Ser403=)
NM_000368.4(TSC1):c.1219G>A (p.Val407Met) rs769331772
NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.4(TSC1):c.1263+106G>A
NM_000368.4(TSC1):c.1263+88A>G rs118203507
NM_000368.4(TSC1):c.1264-1G>A rs1554816432
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1317G>C (p.Leu439=) rs770692313
NM_000368.4(TSC1):c.1324_1325AG[1] (p.Gly443fs) rs1064795285
NM_000368.4(TSC1):c.1332A>G (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1334-174T>C
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.135G>A (p.Leu45=) rs149278759
NM_000368.4(TSC1):c.1367dup (p.Ser457fs) rs1554816245
NM_000368.4(TSC1):c.1388del (p.Phe462_Leu463insTer) rs1064796237
NM_000368.4(TSC1):c.1441del (p.Ala481fs) rs796053466
NM_000368.4(TSC1):c.1443_1445delinsC (p.Ile482_Ser483insTer) rs1064793693
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.4(TSC1):c.1509dup (p.Asp504Ter) rs796053470
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.4(TSC1):c.1533dup (p.Leu512fs) rs1554816029
NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) rs371908551
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1670T>C (p.Leu557Pro) rs1064796040
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
NM_000368.4(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.4(TSC1):c.1696_1697insTC (p.Pro566fs) rs1064794760
NM_000368.4(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1702_1703del (p.Gly568fs) rs397514777
NM_000368.4(TSC1):c.1713del (p.Glu571fs) rs796053471
NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1727del (p.Leu576fs) rs886041684
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1794C>T (p.Ser598=) rs766438395
NM_000368.4(TSC1):c.1795G>A (p.Gly599Arg) rs761959210
NM_000368.4(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817
NM_000368.4(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)
NM_000368.4(TSC1):c.1898G>A (p.Gly633Glu) rs1554815746
NM_000368.4(TSC1):c.1902_1903CA[1] (p.Thr635fs) rs118203597
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1943T>C (p.Val648Ala) rs771341361
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.4(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.4(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.4(TSC1):c.1997+133A>G
NM_000368.4(TSC1):c.1997+1G>A rs118203610
NM_000368.4(TSC1):c.1997+5G>C rs1554815679
NM_000368.4(TSC1):c.1998-2A>G rs1057518217
NM_000368.4(TSC1):c.2001_2004del (p.Leu667fs) rs1554815476
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2023del (p.Asp675fs) rs118203620
NM_000368.4(TSC1):c.2026T>A (p.Trp676Arg) rs748901883
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
NM_000368.4(TSC1):c.2066G>A (p.Arg689His) rs200827913
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2075_2120dup (p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer) rs886042012
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.210+290T>C
NM_000368.4(TSC1):c.2103_2106dup (p.Leu703fs) rs118203638
NM_000368.4(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT (p.Leu702fs) rs1057517842
NM_000368.4(TSC1):c.211-157G>A
NM_000368.4(TSC1):c.211-7T>G rs1554820321
NM_000368.4(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.4(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2128C>T (p.Gln710Ter) rs397514874
NM_000368.4(TSC1):c.2156del (p.Leu719fs) rs886041456
NM_000368.4(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.4(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2208+171A>G
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000368.4(TSC1):c.2215C>T (p.Gln739Ter) rs1554815054
NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.4(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2292_2293insT (p.Gln765fs) rs1064794504
NM_000368.4(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.4(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.4(TSC1):c.2380C>T (p.Gln794Ter) rs781371665
NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.4(TSC1):c.2392-222C>T
NM_000368.4(TSC1):c.23G>C (p.Gly8Ala) rs1269896419
NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter) rs118203687
NM_000368.4(TSC1):c.2483_2486TCAG[1] (p.Ser829fs) rs886039735
NM_000368.4(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.4(TSC1):c.2515_2518del (p.Glu839fs) rs794727320
NM_000368.4(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2569del (p.Glu857fs) rs118203712
NM_000368.4(TSC1):c.2593C>T (p.Gln865Ter) rs886039662
NM_000368.4(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.4(TSC1):c.2625+68G>A
NM_000368.4(TSC1):c.2626-21_2626-20dup rs5901000
NM_000368.4(TSC1):c.2626-4_2626-3insT rs5901000
NM_000368.4(TSC1):c.2626-4delT rs5901000
NM_000368.4(TSC1):c.2626-6_2626-4dupTTT rs5901000
NM_000368.4(TSC1):c.2626G>T (p.Glu876Ter) rs747602915
NM_000368.4(TSC1):c.2641A>T (p.Lys881Ter) rs1057520444
NM_000368.4(TSC1):c.2654G>A (p.Arg885Gln) rs200514807
NM_000368.4(TSC1):c.2656A>T (p.Lys886Ter) rs1554813568
NM_000368.4(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.4(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2866C>T (p.Gln956Ter) rs1554813331
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.2975+127G>T
NM_000368.4(TSC1):c.2995G>A (p.Gly999Arg) rs780224196
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
NM_000368.4(TSC1):c.304T>C (p.Ser102Pro) rs796053453
NM_000368.4(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3112_3114AGC[7] (p.Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779
NM_000368.4(TSC1):c.3129_3130dup (p.Glu1044fs) rs1554812845
NM_000368.4(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462
NM_000368.4(TSC1):c.3249T>C (p.Ser1083=)
NM_000368.4(TSC1):c.3250T>C (p.Ser1084Pro) rs796053463
NM_000368.4(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.4(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439
NM_000368.4(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.4(TSC1):c.331C>T (p.Pro111Ser)
NM_000368.4(TSC1):c.3321C>T (p.Asp1107=) rs118203752
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3347G>A (p.Ser1116Asn) rs764140399
NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) rs1157060310
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.363+3_363+18del16 rs1554820251
NM_000368.4(TSC1):c.365T>C (p.Met122Thr) rs796053454
NM_000368.4(TSC1):c.375C>T (p.Asp125=) rs560863078
NM_000368.4(TSC1):c.378C>T (p.Val126=) rs373173550
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.397G>A (p.Val133Ile) rs118203381
NM_000368.4(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.4(TSC1):c.451_455delinsTTTC (p.Leu151fs) rs1554819900
NM_000368.4(TSC1):c.456del (p.Asp153fs) rs1554819896
NM_000368.4(TSC1):c.479G>A (p.Arg160His) rs749979841
NM_000368.4(TSC1):c.491G>A (p.Trp164Ter) rs118203387
NM_000368.4(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.4(TSC1):c.508+1G>T
NM_000368.4(TSC1):c.508+3A>G rs1554819862
NM_000368.4(TSC1):c.508+99T>C
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.4(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.4(TSC1):c.572T>C (p.Leu191Pro) rs118203403
NM_000368.4(TSC1):c.587del (p.Pro196fs) rs796053464
NM_000368.4(TSC1):c.590_594del (p.Cys197fs) rs1064796162
NM_000368.4(TSC1):c.651A>G (p.Glu217=)
NM_000368.4(TSC1):c.651_663dup (p.Pro222fs) rs1554819509
NM_000368.4(TSC1):c.661A>T (p.Lys221Ter) rs1564497826
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000368.4(TSC1):c.663+35T>C
NM_000368.4(TSC1):c.664-1G>A rs118203423
NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.4(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.4(TSC1):c.737+1G>A rs118203438
NM_000368.4(TSC1):c.737+1G>T rs118203438
NM_000368.4(TSC1):c.737+283A>G
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.4(TSC1):c.737_737+1dupGG rs118203435
NM_000368.4(TSC1):c.738-2A>T rs118203440
NM_000368.4(TSC1):c.738G>A (p.Arg246=) rs118203441
NM_000368.4(TSC1):c.74dup (p.Thr26fs) rs886041959
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.850_881delinsGCTTTCCTCATCGTT (p.Arg284fs) rs886041977
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.897_898CA[2] (p.Gln301fs) rs118203464
NM_000368.4(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.4(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.4(TSC1):c.914-2A>G rs886041638
NM_000368.4(TSC1):c.914-88_914-58T(27_30) rs11364856
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.917G>A (p.Cys306Tyr) rs752290177
NM_000368.4(TSC1):c.941C>T (p.Thr314Met) rs373454700
NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) rs535868591
NM_000368.4(TSC1):c.947G>A (p.Arg316Gln) rs375956049
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000368.4(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.4(TSC1):c.989_990insTT (p.Leu330_Ser331insTer) rs118203478
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.4:c.210+33G>A
NM_000368.4:c.2502+51A>G

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