ClinVar Miner

List of variants in gene TSC2 reported by Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu) rs749326176 0.00004
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148 0.00003
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys) rs45437797 0.00003
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249 0.00003
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999 0.00002
NM_000548.5(TSC2):c.993C>T (p.Asn331=) rs45517153 0.00002
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) rs769653533 0.00001
NC_000016.10:g.2056989_2074645del
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter) rs1596298721
NM_000548.5(TSC2):c.1119+129G>T rs1001221917
NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs) rs2086680808
NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter) rs2086689358
NM_000548.5(TSC2):c.1267_1270del (p.Ser422_Leu423insTer) rs2086765953
NM_000548.5(TSC2):c.1276del (p.Asn425_Leu426insTer) rs2086767947
NM_000548.5(TSC2):c.1327C>T (p.Gln443Ter) rs2151164702
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1476G>C (p.Gln492His) rs1596311941
NM_000548.5(TSC2):c.1487del (p.Ile496fs) rs2087013746
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter) rs45517178
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1599+4A>C rs2151192256
NM_000548.5(TSC2):c.1628dup (p.Glu544fs) rs397515204
NM_000548.5(TSC2):c.1717-1G>A rs45517192
NM_000548.5(TSC2):c.1739_1740insT (p.Ser581fs) rs2088122285
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1840-1G>A rs397514953
NM_000548.5(TSC2):c.1845del (p.Phe615fs) rs137854248
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.1946+1G>A rs397514994
NM_000548.5(TSC2):c.1981_2020del (p.Gly661fs) rs2088453139
NM_000548.5(TSC2):c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_000548.5(TSC2):c.2098-2A>T rs45501596
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro) rs45517217
NM_000548.5(TSC2):c.2220+2T>C rs397515121
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu) rs2088690950
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro) rs2151328709
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) rs45489791
NM_000548.5(TSC2):c.2475_2503del (p.Leu826fs) rs2088933078
NM_000548.5(TSC2):c.2546-313_2967-376del
NM_000548.5(TSC2):c.2562_2566del (p.His855fs) rs2151380036
NM_000548.5(TSC2):c.2639+4_2639+13delinsTACGGCAGGGGTTGCCGTACACCAACCCCT rs2089276880
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs) rs397515115
NM_000548.5(TSC2):c.3294dup (p.Gly1099fs) rs397515048
NM_000548.5(TSC2):c.337-1G>A rs45517105
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs) rs397514952
NM_000548.5(TSC2):c.364del (p.Leu122fs) rs2085499583
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3884-1G>C rs137854079
NM_000548.5(TSC2):c.4005+1G>A rs45517324
NM_000548.5(TSC2):c.4006-2A>T rs397514941
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter) rs397515035
NM_000548.5(TSC2):c.4033A>T (p.Lys1345Ter) rs2151521044
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu) rs1555513920
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter) rs137854045
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter) rs397514976
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter) rs886041772
NM_000548.5(TSC2):c.4287dup (p.Trp1430fs) rs2090516898
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs) rs137854425
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.45_51del (p.Lys16fs) rs397514958
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg) rs2090628516
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) rs137854146
NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter) rs45517360
NM_000548.5(TSC2):c.4798_4804dup (p.Glu1602delinsValTrpTer) rs2090784195
NM_000548.5(TSC2):c.4850-2A>G rs397515315
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.5017del (p.Val1673fs) rs2091048308
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter) rs397515205
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu) rs45517393
NM_000548.5(TSC2):c.5165C>A (p.Ala1722Asp) rs1373235682
NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs) rs397515053
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) rs45517412
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5239_5256del (p.Ile1747_Gln1752del) rs2151632008
NM_000548.5(TSC2):c.5361C>T (p.Gly1787=) rs1334165353
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs) rs397514972
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?) rs137854027
NM_000548.5(TSC2):c.600-124G>A rs2151069014
NM_000548.5(TSC2):c.782_783insT (p.Asn262fs) rs2085955298
NM_000548.5(TSC2):c.843G>T (p.Glu281Asp) rs2151088094
NM_000548.5(TSC2):c.965C>A (p.Ser322Ter) rs1345813917
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000548.5(TSC2):c.979_980dup (p.Met327fs) rs397515176
NM_000548.5(TSC2):c.[4570-18_4570-6del;4570-5CA[3]]

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