ClinVar Miner

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

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Gene type:
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Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.2626-4T>C rs777386691 0.00029
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000368.5(TSC1):c.1209G>A (p.Ser403=) rs141184479 0.00006
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 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.912T>C (p.Tyr304=) rs118203466 0.00004
NM_000368.4(TSC1):c.-242G>T rs571288003 0.00003
NM_000368.5(TSC1):c.-11C>T rs570705364 0.00003
NM_000368.5(TSC1):c.1344T>G (p.Pro448=) rs530908428 0.00003
NM_000368.5(TSC1):c.1878G>A (p.Glu626=) rs753424167 0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) rs560986491 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.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.762T>C (p.Asp254=) rs780005416 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00003
NM_000368.5(TSC1):c.111T>C (p.Arg37=) rs966292723 0.00002
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) rs750512029 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.2976-14C>T rs368652971 0.00002
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=) rs765753157 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=) rs774980129 0.00002
NM_000368.5(TSC1):c.364-7C>T rs775465260 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.1050T>C (p.Ser350=) rs150777389 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.1200C>G (p.Leu400=) rs767514820 0.00001
NM_000368.5(TSC1):c.133T>C (p.Leu45=) rs755226092 0.00001
NM_000368.5(TSC1):c.1590C>T (p.Ser530=) rs762424091 0.00001
NM_000368.5(TSC1):c.1626G>A (p.Lys542=) rs756935981 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 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.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.2064C>T (p.Ile688=) rs878853963 0.00001
NM_000368.5(TSC1):c.2085G>A (p.Leu695=) rs767518902 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.2392-14G>A rs1057524717 0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) rs751128287 0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) rs547498792 0.00001
NM_000368.5(TSC1):c.2604C>T (p.Asn868=) rs147163264 0.00001
NM_000368.5(TSC1):c.2766T>C (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2766T>G (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2814-9A>G rs878853965 0.00001
NM_000368.5(TSC1):c.2878T>C (p.Leu960=) rs766383986 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 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.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) rs1157060310 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.51C>G (p.Pro17=) rs768175095 0.00001
NM_000368.5(TSC1):c.555C>T (p.Tyr185=) rs118203398 0.00001
NM_000368.5(TSC1):c.737+6G>A rs567909130 0.00001
NM_000368.5(TSC1):c.771C>T (p.Ile257=) rs1060504854 0.00001
NM_000368.5(TSC1):c.873T>C (p.Asp291=) rs753928162 0.00001
NM_000368.5(TSC1):c.*2228G>A rs528833042
NM_000368.5(TSC1):c.*2893del rs143549363
NM_000368.5(TSC1):c.*4631del rs60000611
NM_000368.5(TSC1):c.-10G>A
NM_000368.5(TSC1):c.1005A>G (p.Thr335=) rs753091213
NM_000368.5(TSC1):c.1030-14T>C
NM_000368.5(TSC1):c.1030-14del
NM_000368.5(TSC1):c.107-15C>T
NM_000368.5(TSC1):c.1206T>C (p.His402=) rs1845902050
NM_000368.5(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.5(TSC1):c.12A>G (p.Gln4=) rs1588363707
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.138G>A (p.Val46=)
NM_000368.5(TSC1):c.1416T>C (p.Ser472=)
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
NM_000368.5(TSC1):c.1533T>C (p.Ser511=) rs1588310849
NM_000368.5(TSC1):c.1549C>A (p.Arg517=) rs1243886871
NM_000368.5(TSC1):c.1647G>A (p.Lys549=) rs2131835538
NM_000368.5(TSC1):c.1713A>G (p.Glu571=) rs1588309781
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1803T>A (p.Pro601=)
NM_000368.5(TSC1):c.1809G>C (p.Pro603=) rs112434645
NM_000368.5(TSC1):c.1830G>T (p.Val610=)
NM_000368.5(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.5(TSC1):c.1998-9T>C
NM_000368.5(TSC1):c.2031C>A (p.Thr677=) rs1060504855
NM_000368.5(TSC1):c.2079C>T (p.Asp693=)
NM_000368.5(TSC1):c.2286T>C (p.Asn762=) rs1554815010
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=) rs1845442273
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) rs754248661
NM_000368.5(TSC1):c.2478G>A (p.Leu826=) rs149719514
NM_000368.5(TSC1):c.2503-12T>C rs765263617
NM_000368.5(TSC1):c.2622A>G (p.Thr874=) rs2131684460
NM_000368.5(TSC1):c.2626-3_2626-2insT rs760737807
NM_000368.5(TSC1):c.2626-6_2626-5insTC rs1256355250
NM_000368.5(TSC1):c.2649C>G (p.Ala883=) rs1279318276
NM_000368.5(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.5(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.5(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=) rs1588287899
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=) rs1588287598
NM_000368.5(TSC1):c.3264G>C (p.Leu1088=)
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=)
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=) rs1588285980
NM_000368.5(TSC1):c.364-15C>T rs1846686000
NM_000368.5(TSC1):c.444A>G (p.Lys148=) rs2132189552
NM_000368.5(TSC1):c.509-14G>T rs984165284
NM_000368.5(TSC1):c.516G>A (p.Val172=) rs1419763219
NM_000368.5(TSC1):c.600C>A (p.Val200=)
NM_000368.5(TSC1):c.660C>T (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709
NM_000368.5(TSC1):c.738G>A (p.Arg246=) rs118203441
NM_000368.5(TSC1):c.747A>G (p.Arg249=)
NM_000368.5(TSC1):c.759T>C (p.His253=)
NM_000368.5(TSC1):c.81T>C (p.Ala27=) rs1588363327
NM_000368.5(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.5(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.906T>C (p.Asn302=)
NM_000368.5(TSC1):c.90A>G (p.Lys30=) rs1847032608
NM_000368.5(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>T (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.978A>G (p.Leu326=) rs1060504862
NM_000368.5(TSC1):c.9A>G (p.Gln3=) rs1588363733

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