ClinVar Miner

List of variants in gene TSC2 reported as likely pathogenic

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 302
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984 0.00021
NM_000548.5(TSC2):c.4469A>G (p.Glu1490Gly) rs759882146 0.00005
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu) rs749326176 0.00004
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys) rs45437797 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr) rs45517113 0.00003
NM_000548.5(TSC2):c.2437G>A (p.Val813Met) rs375030314 0.00002
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999 0.00002
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980 0.00002
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NC_000016.10:g.(?_2076471)_(2085342_?)del
NC_000016.10:g.2055492_2070804dup
NC_000016.9:g.(?_2110665)_(2113060_?)del
NC_000016.9:g.(?_2131020)_(2133730_?)del
NC_000016.9:g.(?_2133686)_(2138611_?)del
NC_000016.9:g.(?_2135165)_(2138160_?)del
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) rs45484892
NM_000548.5(TSC2):c.1037T>A (p.Ile346Asn)
NM_000548.5(TSC2):c.1057_1059delinsTTT (p.Leu353Phe)
NM_000548.5(TSC2):c.1067_1068dup (p.Ala357fs)
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1089del (p.Asn363fs)
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1096_1116del (p.Glu366_Leu372del) rs1085307591
NM_000548.5(TSC2):c.1098_1100del (p.Arg367del)
NM_000548.5(TSC2):c.1119G>C (p.Gln373His) rs1057523727
NM_000548.5(TSC2):c.1120-1del rs2086678681
NM_000548.5(TSC2):c.1152_1162del (p.His385fs)
NM_000548.5(TSC2):c.1172T>A (p.Val391Glu)
NM_000548.5(TSC2):c.11dup (p.Thr5fs) rs1596233685
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter) rs397514897
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly) rs1057523509
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1257+2_1257+3del rs1596303814
NM_000548.5(TSC2):c.1257+5G>A rs2151157428
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1361+1G>T rs45517164
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro) rs45481199
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) rs45481199
NM_000548.5(TSC2):c.1443+5G>C rs1057521562
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) rs45517177
NM_000548.5(TSC2):c.1491del (p.Glu498fs) rs137854346
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1523C>A (p.Ala508Asp)
NM_000548.5(TSC2):c.1565_1566del (p.His522fs) rs1555502530
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro) rs397514922
NM_000548.5(TSC2):c.1659C>A (p.Tyr553Ter)
NM_000548.5(TSC2):c.1683_1685del (p.Thr562del)
NM_000548.5(TSC2):c.1716+1G>A rs45517190
NM_000548.5(TSC2):c.1717-115_1759del rs2151275013
NM_000548.5(TSC2):c.1717-1G>A rs45517192
NM_000548.5(TSC2):c.1717-1G>C
NM_000548.5(TSC2):c.1717-3C>A
NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg)
NM_000548.5(TSC2):c.1728C>G (p.Tyr576Ter)
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.1803C>G (p.Ser601Arg)
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000548.5(TSC2):c.1840-2A>C rs45517205
NM_000548.5(TSC2):c.1840-2A>G rs45517205
NM_000548.5(TSC2):c.1855_1863dup (p.Leu619_Leu621dup) rs2088385424
NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del) rs397515195
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.1866_1870dup (p.Asp624fs) rs2088388374
NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala) rs2151296839
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.1945_1946+4del rs2151299256
NM_000548.5(TSC2):c.1947-1G>T rs397515310
NM_000548.5(TSC2):c.1947-2A>C rs45517207
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2087G>T (p.Cys696Phe) rs45486196
NM_000548.5(TSC2):c.2098-2A>G rs45501596
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2125G>T (p.Val709Phe) rs1567467135
NM_000548.5(TSC2):c.2126T>G (p.Val709Gly)
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys) rs182538665
NM_000548.5(TSC2):c.2170_2177del (p.Phe724fs)
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro) rs45517217
NM_000548.5(TSC2):c.2220G>A (p.Met740Ile) rs2151319848
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.225+2T>C rs397515105
NM_000548.5(TSC2):c.226-1G>A rs397515134
NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu) rs2088690950
NM_000548.5(TSC2):c.2265del (p.Gly756fs)
NM_000548.5(TSC2):c.2318dup (p.Leu773fs) rs1596350476
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro) rs2151328709
NM_000548.5(TSC2):c.2355G>A (p.Gln785=) rs2088708544
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
NM_000548.5(TSC2):c.2386_2457del (p.Leu796_Ile819del) rs1555507504
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) rs45489791
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.2469_2471del (p.Pro824del) rs2088931795
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) rs45517239
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro) rs1057522911
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro) rs397515303
NM_000548.5(TSC2):c.2537del (p.Phe846fs)
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2545A>C (p.Thr849Pro)
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro) rs45517248
NM_000548.5(TSC2):c.2599dup (p.Ser867fs)
NM_000548.5(TSC2):c.2608G>C (p.Ala870Pro) rs1060500975
NM_000548.5(TSC2):c.2623T>G (p.Tyr875Asp) rs2089272680
NM_000548.5(TSC2):c.2639+5G>C
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro) rs397515054
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2698T>G (p.Cys900Gly)
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2726T>A (p.Val909Asp)
NM_000548.5(TSC2):c.2735T>C (p.Ile912Thr)
NM_000548.5(TSC2):c.2743-17_2744del
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly) rs1555508942
NM_000548.5(TSC2):c.2837+1G>A rs45517271
NM_000548.5(TSC2):c.2838-122G>A rs1567489890
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.2870dup (p.Leu957fs) rs1567490680
NM_000548.5(TSC2):c.2957dup (p.Val987fs) rs2089598055
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu) rs368878445
NM_000548.5(TSC2):c.301_303dup (p.Val101_Leu102insVal)
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro) rs45438192
NM_000548.5(TSC2):c.3083A>T (p.Asp1028Val)
NM_000548.5(TSC2):c.3086T>G (p.Met1029Arg)
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg) rs1567496821
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3096A>G (p.Arg1032=) rs2089803859
NM_000548.5(TSC2):c.311T>C (p.Leu104Pro) rs2085373985
NM_000548.5(TSC2):c.3127A>T (p.Lys1043Ter)
NM_000548.5(TSC2):c.3132-1G>C rs45443096
NM_000548.5(TSC2):c.3134C>T (p.Ser1045Phe)
NM_000548.5(TSC2):c.3164del (p.Gly1055fs) rs1555510519
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.3202A>C (p.Thr1068Pro) rs1060500947
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.3284+1dup
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_000548.5(TSC2):c.3337del (p.Glu1113fs)
NM_000548.5(TSC2):c.335_336+14del rs1596259720
NM_000548.5(TSC2):c.336+1G>T
NM_000548.5(TSC2):c.336+5G>C rs1057523242
NM_000548.5(TSC2):c.3385dup (p.Arg1129fs)
NM_000548.5(TSC2):c.3398-1G>C
NM_000548.5(TSC2):c.3398-2A>G rs2151455445
NM_000548.5(TSC2):c.3523dup (p.Val1175fs) rs2151459858
NM_000548.5(TSC2):c.3598C>G (p.Arg1200Gly)
NM_000548.5(TSC2):c.3610+1G>T rs45517299
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) rs1555511663
NM_000548.5(TSC2):c.3611-1G>C rs45517302
NM_000548.5(TSC2):c.3611-2A>G rs397515169
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3616A>C (p.Thr1206Pro)
NM_000548.5(TSC2):c.3648del (p.Ser1217fs)
NM_000548.5(TSC2):c.3695_3700delinsTA (p.Ser1232fs)
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3783del (p.Lys1262fs) rs1555512548
NM_000548.5(TSC2):c.3786dup (p.Pro1263fs) rs2090170656
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3814+1G>C rs397514902
NM_000548.5(TSC2):c.3814+2T>G
NM_000548.5(TSC2):c.3824del (p.Phe1275fs) rs1185513978
NM_000548.5(TSC2):c.3884-1G>T rs137854079
NM_000548.5(TSC2):c.3G>A (p.Met1Ile) rs397515208
NM_000548.5(TSC2):c.3G>T (p.Met1Ile) rs397515208
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4005+2T>C rs137854254
NM_000548.5(TSC2):c.4006-15_4048del rs2090477253
NM_000548.5(TSC2):c.4006-1G>C rs1085307853
NM_000548.5(TSC2):c.4006-2A>G rs397514941
NM_000548.5(TSC2):c.4011del (p.Ser1338fs)
NM_000548.5(TSC2):c.4030_4038delinsT (p.Glu1344fs)
NM_000548.5(TSC2):c.4057del (p.Val1353fs)
NM_000548.5(TSC2):c.4146del (p.Ser1383fs)
NM_000548.5(TSC2):c.4181T>C (p.Leu1394Pro)
NM_000548.5(TSC2):c.4255_4256del (p.Gln1419fs) rs2151529577
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs) rs137853988
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.440C>A (p.Thr147Lys) rs1555497690
NM_000548.5(TSC2):c.4410dup (p.Arg1471fs)
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr) rs45517344
NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser) rs45517344
NM_000548.5(TSC2):c.4493+1G>C
NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr) rs137854879
NM_000548.5(TSC2):c.4494-1G>A rs45517346
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4508A>G (p.Gln1503Arg) rs45516293
NM_000548.5(TSC2):c.4509G>T (p.Gln1503His) rs45517349
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000548.5(TSC2):c.4569+1G>T rs1060500972
NM_000548.5(TSC2):c.4569+2T>A rs1555514984
NM_000548.5(TSC2):c.4569+2T>C
NM_000548.5(TSC2):c.4569+2T>G rs1555514984
NM_000548.5(TSC2):c.4603G>C (p.Asp1535His) rs45517353
NM_000548.5(TSC2):c.4621_4623del (p.Asp1541del) rs2090626831
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg) rs2090628516
NM_000548.5(TSC2):c.4645T>C (p.Tyr1549His) rs45488595
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4662+1G>C rs45514095
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4711T>C (p.Tyr1571His) rs397514905
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys) rs45478894
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met) rs1327099376
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser) rs45503995
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg) rs137854203
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000548.5(TSC2):c.4784G>A (p.Gly1595Glu)
NM_000548.5(TSC2):c.478C>G (p.Leu160Val) rs45517109
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup) rs1596439426
NM_000548.5(TSC2):c.482-1G>C rs137854306
NM_000548.5(TSC2):c.4859A>G (p.His1620Arg) rs397515177
NM_000548.5(TSC2):c.4859A>T (p.His1620Leu) rs397515177
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.488T>C (p.Phe163Ser) rs1596270677
NM_000548.5(TSC2):c.4898_4915del (p.His1633_Lys1638del)
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro) rs794727602
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg) rs794727602
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met) rs1064796970
NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu) rs1064796970
NM_000548.5(TSC2):c.4936G>T (p.Val1646Leu) rs1064796970
NM_000548.5(TSC2):c.4938_4946del (p.Ser1647_Val1649del) rs1555438624
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000548.5(TSC2):c.4951A>C (p.Asn1651His)
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4990-1G>A rs1555439650
NM_000548.5(TSC2):c.5012T>A (p.Val1671Glu) rs2151611996
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe) rs45490993
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000548.5(TSC2):c.5045T>C (p.Leu1682Pro)
NM_000548.5(TSC2):c.5056C>A (p.Gln1686Lys)
NM_000548.5(TSC2):c.5067_5068+8del rs1567128655
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5068+43_5080del
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn) rs137854882
NM_000548.5(TSC2):c.5069-3_5069-2del rs1114167460
NM_000548.5(TSC2):c.5122del (p.Leu1708fs) rs137854336
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro) rs397515274
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro) rs45517395
NM_000548.5(TSC2):c.5138_5149del (p.Arg1713_Ala1716del) rs1064795156
NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg)
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5165C>A (p.Ala1722Asp) rs1373235682
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro) rs45517408
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) rs1060499676
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu) rs45507199
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro) rs45517413
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs) rs137854002
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro) rs2151631825
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5242_5282del41 (p.Lys1748fs)
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5259+2T>G rs1555440894
NM_000548.5(TSC2):c.5266del (p.Glu1756fs) rs878854118
NM_000548.5(TSC2):c.5408_5409insG (p.Phe1803fs)
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?) rs137854027
NM_000548.5(TSC2):c.551T>A (p.Val184Asp) rs2085667006
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter) rs45517112
NM_000548.5(TSC2):c.599+2T>C
NM_000548.5(TSC2):c.600-2A>G rs45468592
NM_000548.5(TSC2):c.649-1G>A rs794727906
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro) rs1596278377
NM_000548.5(TSC2):c.708_765del (p.Pro237fs) rs2151079297
NM_000548.5(TSC2):c.728T>C (p.Leu243Pro)
NM_000548.5(TSC2):c.775-1G>A rs45454192
NM_000548.5(TSC2):c.775-2A>G
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro) rs45517131
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
NM_000548.5(TSC2):c.843G>T (p.Glu281Asp) rs2151088094
NM_000548.5(TSC2):c.848+2T>A
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.849-1G>C rs45506396
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp) rs1596288578
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter) rs397515097
NM_000548.5(TSC2):c.975+1G>A rs137854200
NM_000548.5(TSC2):c.976-10C>A rs765990217
NM_000548.5(TSC2):c.976-207_1191del
Single allele

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