ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 1

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NC_000009.11:g.(?_135778117)_(135779381_?)del
NM_000368.5(TSC1):c.1005dup (p.Arg336fs) rs2131975092
NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs) rs1554817344
NM_000368.5(TSC1):c.1029+1G>C rs118203485
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.106+2T>C rs1554820976
NM_000368.5(TSC1):c.1098_1105dup (p.Leu369fs)
NM_000368.5(TSC1):c.1138_1141+1del rs2538846534
NM_000368.5(TSC1):c.1141+1G>A rs397514819
NM_000368.5(TSC1):c.1141+3A>G rs2131956082
NM_000368.5(TSC1):c.1156del (p.Thr386fs) rs2131946983
NM_000368.5(TSC1):c.1229C>A (p.Ser410Ter) rs1564487289
NM_000368.5(TSC1):c.125T>A (p.Val42Glu) rs1846926218
NM_000368.5(TSC1):c.1264-1G>A rs1554816432
NM_000368.5(TSC1):c.1309dup (p.His437fs) rs2538783712
NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter) rs1845724649
NM_000368.5(TSC1):c.1334-30_1344del rs2538772369
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.1439-1G>A rs397514804
NM_000368.5(TSC1):c.1439-1G>C rs397514804
NM_000368.5(TSC1):c.1439-2A>G rs118203531
NM_000368.5(TSC1):c.1459dup (p.Ser487fs)
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1531dup (p.Ser511fs) rs1845652182
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.5(TSC1):c.1782_1786del (p.Gly595fs) rs1554815828
NM_000368.5(TSC1):c.1798C>T (p.Gln600Ter) rs2131822866
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.5(TSC1):c.1831del (p.Ala611fs)
NM_000368.5(TSC1):c.1934del (p.Pro645fs)
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter) rs1845604585
NM_000368.5(TSC1):c.1997+1G>A rs118203610
NM_000368.5(TSC1):c.1997+2T>C rs2131806725
NM_000368.5(TSC1):c.2042-177_2266del
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2129_2132dup (p.His712fs) rs2538652467
NM_000368.5(TSC1):c.215T>C (p.Leu72Pro) rs118203354
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2209-2A>G rs2131742187
NM_000368.5(TSC1):c.2242del (p.Gln748fs) rs2538623662
NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter) rs1057519319
NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs) rs2538619323
NM_000368.5(TSC1):c.2275del (p.Ala759fs)
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter) rs1588355838
NM_000368.5(TSC1):c.2391+1G>C rs1060503224
NM_000368.5(TSC1):c.2391+1G>T rs1060503224
NM_000368.5(TSC1):c.2392-1G>T rs397514822
NM_000368.5(TSC1):c.2392-1del rs2131710574
NM_000368.5(TSC1):c.2392-2A>G rs2131710621
NM_000368.5(TSC1):c.2392-6_2398del rs2538580044
NM_000368.5(TSC1):c.2405dup (p.Asp802fs) rs2538579287
NM_000368.5(TSC1):c.2502+1G>A rs2131702478
NM_000368.5(TSC1):c.2502+1G>T rs2131702478
NM_000368.5(TSC1):c.2502+2_2502+9del rs1588298866
NM_000368.5(TSC1):c.278T>A (p.Leu93Gln) rs118203363
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.5(TSC1):c.2813+2T>G rs1845135533
NM_000368.5(TSC1):c.2814-1G>A rs2538483320
NM_000368.5(TSC1):c.2814-2A>G rs1588290111
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.338_343del (p.Leu113_Pro114del) rs2539071463
NM_000368.5(TSC1):c.362A>T (p.Lys121Met) rs118203369
NM_000368.5(TSC1):c.363+1G>T rs118203372
NM_000368.5(TSC1):c.363+2_363+5del rs1846806279
NM_000368.5(TSC1):c.363+5G>C rs118203374
NM_000368.5(TSC1):c.364-2A>G rs1846685279
NM_000368.5(TSC1):c.375CGT[1] (p.Val128del) rs2539042877
NM_000368.5(TSC1):c.378_379insCGT (p.Val126_Val127insArg) rs1846682853
NM_000368.5(TSC1):c.381_383del (p.Val128del) rs118203378
NM_000368.5(TSC1):c.385_399dup (p.Leu134_Val135insThrThrGlyValLeu)
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp) rs397514784
NM_000368.5(TSC1):c.508+2T>C rs2132185885
NM_000368.5(TSC1):c.509-1G>A rs1554819620
NM_000368.5(TSC1):c.509-1G>C rs1554819620
NM_000368.5(TSC1):c.542A>C (p.His181Pro) rs397515294
NM_000368.5(TSC1):c.562T>G (p.Phe188Val) rs2539014270
NM_000368.5(TSC1):c.572T>A (p.Leu191His) rs118203403
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs) rs1554819509
NM_000368.5(TSC1):c.663+1G>A rs118203419
NM_000368.5(TSC1):c.663+2T>C rs2132148804
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.664-1G>A rs118203423
NM_000368.5(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.738-2_740del rs1554817707
NM_000368.5(TSC1):c.769_776del (p.Ile257fs) rs1554817676
NM_000368.5(TSC1):c.901_913+1del rs118203465
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter) rs118203466
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter) rs1554817388

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