ClinVar Miner

List of variants reported as benign for Tuberous sclerosis 1 by Invitae

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Total variants: 206
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HGVS dbSNP
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.1006C>T (p.Arg336Trp) rs118203483
NM_000368.4(TSC1):c.1007G>A (p.Arg336Gln) rs397514808
NM_000368.4(TSC1):c.1020A>G (p.Glu340=) rs760233114
NM_000368.4(TSC1):c.1047A>G (p.Pro349=) rs118203492
NM_000368.4(TSC1):c.1051A>G (p.Met351Val) rs781312535
NM_000368.4(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1097C>T (p.Pro366Leu) rs763915012
NM_000368.4(TSC1):c.1110A>T (p.Ser370=) rs371648887
NM_000368.4(TSC1):c.1113C>T (p.His371=) rs771217333
NM_000368.4(TSC1):c.1141+10T>C rs367601694
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1209G>A (p.Ser403=) rs141184479
NM_000368.4(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1219G>A (p.Val407Met) rs769331772
NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) rs397514840
NM_000368.4(TSC1):c.1256C>G (p.Pro419Arg) rs878853959
NM_000368.4(TSC1):c.1264-9T>C rs1399728684
NM_000368.4(TSC1):c.126A>C (p.Val42=) rs118203335
NM_000368.4(TSC1):c.1273A>G (p.Met425Val) rs753199284
NM_000368.4(TSC1):c.130A>G (p.Thr44Ala) rs1399266964
NM_000368.4(TSC1):c.1315C>G (p.Leu439Val) rs199800297
NM_000368.4(TSC1):c.1333+5A>G rs118203515
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1355G>C (p.Gly452Ala) rs371093730
NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1439-4T>C rs762473323
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1489G>C (p.Val497Leu) rs946491568
NM_000368.4(TSC1):c.1503A>C (p.Gly501=) rs201810746
NM_000368.4(TSC1):c.1506C>T (p.Gly502=) rs772337076
NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) rs118203543
NM_000368.4(TSC1):c.1528G>A (p.Asp510Asn) rs779206386
NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) rs118203548
NM_000368.4(TSC1):c.1580A>G (p.Gln527Arg) rs767708806
NM_000368.4(TSC1):c.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.1585G>A (p.Ala529Thr) rs751125011
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.1591G>A (p.Val531Met) rs377279170
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.166C>T (p.Pro56Ser) rs1330089369
NM_000368.4(TSC1):c.1677C>T (p.Cys559=) rs368317116
NM_000368.4(TSC1):c.1678G>A (p.Gly560Ser) rs746304922
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
NM_000368.4(TSC1):c.1685C>G (p.Ala562Gly) rs377185303
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
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.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.4(TSC1):c.1772C>A (p.Pro591Gln) rs768985094
NM_000368.4(TSC1):c.1772C>T (p.Pro591Leu) rs768985094
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
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.1808C>T (p.Pro603Leu) rs751247705
NM_000368.4(TSC1):c.1818T>A (p.His606Gln) rs758769193
NM_000368.4(TSC1):c.1848C>T (p.Ala616=) rs752286096
NM_000368.4(TSC1):c.1888A>C (p.Lys630Gln) rs1158059433
NM_000368.4(TSC1):c.1916G>T (p.Gly639Val) rs372583166
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1922C>A (p.Pro641His) rs397514863
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
NM_000368.4(TSC1):c.1975G>A (p.Ala659Thr) rs914628341
NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) rs118203609
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2034C>T (p.His678=) rs201392975
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.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.2195A>G (p.His732Arg) rs878853964
NM_000368.4(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.4(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2281T>C (p.Tyr761His) rs776386313
NM_000368.4(TSC1):c.2303G>A (p.Arg768His) rs1033725987
NM_000368.4(TSC1):c.2312T>C (p.Met771Thr) rs760208449
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2423C>T (p.Ala808Val) rs756514375
NM_000368.4(TSC1):c.2424G>A (p.Ala808=) rs200651872
NM_000368.4(TSC1):c.2425G>C (p.Glu809Gln) rs118203692
NM_000368.4(TSC1):c.2478G>C (p.Leu826=) rs149719514
NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) rs118203699
NM_000368.4(TSC1):c.249C>T (p.Ala83=) rs145783693
NM_000368.4(TSC1):c.2505C>T (p.Leu835=) rs112384441
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2520G>A (p.Ser840=) rs547498792
NM_000368.4(TSC1):c.2604C>T (p.Asn868=) rs147163264
NM_000368.4(TSC1):c.2647G>A (p.Ala883Thr) rs118203721
NM_000368.4(TSC1):c.2653C>T (p.Arg885Trp) rs118203723
NM_000368.4(TSC1):c.2677A>C (p.Ser893Arg) rs1396314595
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2700G>A (p.Gln900=) rs560986491
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2830G>A (p.Ala944Thr) rs751362258
NM_000368.4(TSC1):c.2901C>T (p.Gly967=) rs774634388
NM_000368.4(TSC1):c.2922C>T (p.Leu974=) rs769389702
NM_000368.4(TSC1):c.2924T>A (p.Leu975Gln) rs549467159
NM_000368.4(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046
NM_000368.4(TSC1):c.2968G>A (p.Glu990Lys) rs200398750
NM_000368.4(TSC1):c.2982C>T (p.Asp994=) rs199919348
NM_000368.4(TSC1):c.3005A>T (p.Asp1002Val) rs202121327
NM_000368.4(TSC1):c.3019C>T (p.His1007Tyr) rs764738792
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
NM_000368.4(TSC1):c.3032C>A (p.Ala1011Glu) rs796053449
NM_000368.4(TSC1):c.3068C>T (p.Pro1023Leu) rs1554812917
NM_000368.4(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3112A>G (p.Ser1038Gly) rs768443391
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3129C>T (p.Ser1043=) rs201192125
NM_000368.4(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462
NM_000368.4(TSC1):c.3133C>G (p.Leu1045Val) rs747162992
NM_000368.4(TSC1):c.3172C>A (p.Pro1058Thr) rs112066743
NM_000368.4(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747
NM_000368.4(TSC1):c.3194C>T (p.Thr1065Met) rs753388676
NM_000368.4(TSC1):c.3195G>A (p.Thr1065=) rs118203746
NM_000368.4(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899
NM_000368.4(TSC1):c.3210G>A (p.Ala1070=) rs201165286
NM_000368.4(TSC1):c.3266G>C (p.Gly1089Ala) rs762845573
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3290G>A (p.Arg1097His) rs118203750
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.4(TSC1):c.3319G>A (p.Asp1107Asn) rs1060503226
NM_000368.4(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3356C>T (p.Thr1119Ile) rs775420987
NM_000368.4(TSC1):c.3364G>A (p.Gly1122Ser) rs760918561
NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) rs1157060310
NM_000368.4(TSC1):c.3386C>T (p.Ala1129Val) rs772233665
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3402C>T (p.Asn1134=) rs769266225
NM_000368.4(TSC1):c.3405A>G (p.Leu1135=) rs568004490
NM_000368.4(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082
NM_000368.4(TSC1):c.3414T>C (p.Pro1138=) rs745475737
NM_000368.4(TSC1):c.3416A>C (p.His1139Pro) rs764018144
NM_000368.4(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355
NM_000368.4(TSC1):c.3420G>A (p.Pro1140=) rs763931959
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.3436G>T (p.Asp1146Tyr) rs397514806
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.370A>G (p.Thr124Ala) rs745871522
NM_000368.4(TSC1):c.376G>A (p.Val126Ile) rs397514843
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.513C>T (p.His171=) rs377196837
NM_000368.4(TSC1):c.518C>T (p.Ala173Val) rs777484049
NM_000368.4(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.4(TSC1):c.524T>C (p.Val175Ala) rs1415895533
NM_000368.4(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.552G>C (p.Val184=) rs118203397
NM_000368.4(TSC1):c.555C>T (p.Tyr185=) rs118203398
NM_000368.4(TSC1):c.597C>T (p.Phe199=) rs202242304
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.625A>G (p.Met209Val) rs754980229
NM_000368.4(TSC1):c.65G>A (p.Arg22Gln) rs141736779
NM_000368.4(TSC1):c.69C>T (p.Asp23=) rs769282604
NM_000368.4(TSC1):c.734G>A (p.Arg245Gln) rs755859330
NM_000368.4(TSC1):c.782A>G (p.Lys261Arg) rs371225009
NM_000368.4(TSC1):c.798C>T (p.Pro266=) rs770704462
NM_000368.4(TSC1):c.810A>G (p.Ser270=) rs142336706
NM_000368.4(TSC1):c.830T>C (p.Val277Ala) rs200749357
NM_000368.4(TSC1):c.840A>G (p.Gln280=) rs1171852730
NM_000368.4(TSC1):c.850C>T (p.Arg284Cys) rs140544652
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.853T>G (p.Phe285Val) rs377076733
NM_000368.4(TSC1):c.857C>G (p.Pro286Arg) rs375144225
NM_000368.4(TSC1):c.862C>T (p.Arg288Cys) rs770653972
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.899C>T (p.Thr300Ile) rs370916731
NM_000368.4(TSC1):c.89A>G (p.Lys30Arg) rs796053452
NM_000368.4(TSC1):c.912T>C (p.Tyr304=) rs118203466
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.946C>T (p.Arg316Trp) rs535868591
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.5(TSC1):c.1333+6del rs1060503212
NM_000368.5(TSC1):c.1574G>C (p.Ser525Thr) rs750784794
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.5(TSC1):c.210+5T>C rs753035149
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) rs759047948
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.5(TSC1):c.920C>T (p.Ala307Val) rs572611259
NM_001162426.2(TSC1):c.3109_3111AGC[5] (p.Ser1042del) rs2234980
NM_001162426.2(TSC1):c.3109_3111AGC[7] (p.Ser1042dup) rs2234980
NM_001162426.2(TSC1):c.568C>T (p.Arg190Cys) rs118203400

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