ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 2 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.(?_2076471)_(2085342_?)del
NC_000016.10:g.2055492_2070804dup
NC_000016.9:g.(?_2110464)_(2111943_?)del
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.1037T>A (p.Ile346Asn) rs2151136498
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1098_1100del (p.Arg367del) rs2548523097
NM_000548.5(TSC2):c.1118A>G (p.Gln373Arg) rs397515131
NM_000548.5(TSC2):c.1120-1del rs2086678681
NM_000548.5(TSC2):c.1257+2_1257+3del rs1596303814
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1361+1G>A rs45517164
NM_000548.5(TSC2):c.1361G>A (p.Arg454Lys)
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro) rs45481199
NM_000548.5(TSC2):c.1443G>T (p.Glu481Asp) rs137854876
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) rs45517177
NM_000548.5(TSC2):c.1523C>A (p.Ala508Asp) rs1336558090
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro) rs397514922
NM_000548.5(TSC2):c.1683_1685del (p.Thr562del) rs2543475153
NM_000548.5(TSC2):c.1717-115_1759del rs2151275013
NM_000548.5(TSC2):c.1717-1G>A rs45517192
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.1803C>G (p.Ser601Arg) rs1044401463
NM_000548.5(TSC2):c.1840-2A>G rs45517205
NM_000548.5(TSC2):c.1840-3C>G rs397515154
NM_000548.5(TSC2):c.1855_1863dup (p.Leu619_Leu621dup) rs2088385424
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
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.2086T>C (p.Cys696Arg) rs45483301
NM_000548.5(TSC2):c.2117T>C (p.Leu706Pro) rs2151316174
NM_000548.5(TSC2):c.2125G>T (p.Val709Phe) rs1567467135
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.226-1G>A rs397515134
NM_000548.5(TSC2):c.2356-1_2356delinsTT
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.2545A>C (p.Thr849Pro) rs781713438
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro) rs45517248
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.2665G>C (p.Ala889Pro) rs397515054
NM_000548.5(TSC2):c.2698T>G (p.Cys900Gly) rs1354917235
NM_000548.5(TSC2):c.2726T>A (p.Val909Asp) rs2151388871
NM_000548.5(TSC2):c.2735T>C (p.Ile912Thr) rs2151389141
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2743-17_2744del rs2543927233
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2837+1G>A rs45517271
NM_000548.5(TSC2):c.2T>A (p.Met1Lys) rs2084667702
NM_000548.5(TSC2):c.301_303dup (p.Val101_Leu102insVal) rs2548398218
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro) rs45438192
NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn) rs45517280
NM_000548.5(TSC2):c.3083A>T (p.Asp1028Val) rs397515255
NM_000548.5(TSC2):c.3086T>G (p.Met1029Arg) rs1057522974
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg) rs1567496821
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.3202A>C (p.Thr1068Pro) rs1060500947
NM_000548.5(TSC2):c.335_336+14del rs1596259720
NM_000548.5(TSC2):c.3398-1G>C rs45517293
NM_000548.5(TSC2):c.3398-2A>G rs2151455445
NM_000548.5(TSC2):c.3598C>G (p.Arg1200Gly) rs45438205
NM_000548.5(TSC2):c.3611-1G>C rs45517302
NM_000548.5(TSC2):c.3611-2A>G rs397515169
NM_000548.5(TSC2):c.3616A>C (p.Thr1206Pro) rs1348376140
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3G>A (p.Met1Ile) rs397515208
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.440C>A (p.Thr147Lys) rs1555497690
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr) rs45517344
NM_000548.5(TSC2):c.4494-3_4498del
NM_000548.5(TSC2):c.4508A>G (p.Gln1503Arg) rs45516293
NM_000548.5(TSC2):c.4645T>C (p.Tyr1549His) rs45488595
NM_000548.5(TSC2):c.4662+1G>C rs45514095
NM_000548.5(TSC2):c.4692T>G (p.Asn1564Lys)
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys) rs45478894
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) rs2090782357
NM_000548.5(TSC2):c.482-1G>C rs137854306
NM_000548.5(TSC2):c.4859A>G (p.His1620Arg) rs397515177
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro) rs794727602
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.4951A>C (p.Asn1651His) rs2090865014
NM_000548.5(TSC2):c.4990-1G>A rs1555439650
NM_000548.5(TSC2):c.5067_5068+8del rs1567128655
NM_000548.5(TSC2):c.5068+43_5080del rs2544469389
NM_000548.5(TSC2):c.5160+2_5160+3del rs137854036
NM_000548.5(TSC2):c.5160+5del rs2091103854
NM_000548.5(TSC2):c.5161-37_5161-16del
NM_000548.5(TSC2):c.5164G>C (p.Ala1722Pro) rs397515270
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro) rs45517408
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro) rs2151631825
NM_000548.5(TSC2):c.5242_5282del41 (p.Lys1748fs)
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5408_5409insG (p.Phe1803fs) rs2544521172
NM_000548.5(TSC2):c.551T>A (p.Val184Asp) rs2085667006
NM_000548.5(TSC2):c.599+5G>A rs45463996
NM_000548.5(TSC2):c.649-1G>A rs794727906
NM_000548.5(TSC2):c.728T>C (p.Leu243Pro) rs2151080318
NM_000548.5(TSC2):c.775-1G>A rs45454192
NM_000548.5(TSC2):c.775-2A>G rs2548472327
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.976-207_1191del

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