ClinVar Miner

List of variants in gene TSC2 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.*23C>T rs774841226
NM_000548.5(TSC2):c.*26G>A rs13332015
NM_000548.5(TSC2):c.*44T>C rs188991734
NM_000548.5(TSC2):c.*55_*58TAAA[1] rs137854184
NM_000548.5(TSC2):c.*5G>A rs201342697
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.*71C>T rs45498900
NM_000548.5(TSC2):c.*77G>A rs886051799
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000548.5(TSC2):c.-65G>C rs563544506
NM_000548.5(TSC2):c.-85G>C rs540716235
NM_000548.5(TSC2):c.-87A>G rs886051785
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1257+8C>A rs767392684
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1362-9G>A rs763842281
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp) rs886051788
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.5(TSC2):c.1600-13C>G rs1800712
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg) rs775195398
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1836G>A (p.Leu612=) rs758839898
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1947-4G>A rs201633455
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala) rs878854080
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.5(TSC2):c.2097+13G>A rs367915255
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.5(TSC2):c.226-4A>G rs886051786
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile) rs886051790
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.5(TSC2):c.2355+8G>A rs199558375
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.5(TSC2):c.2546-12C>T rs13331451
NM_000548.5(TSC2):c.2546-4G>A rs746958032
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.258G>C (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2838-5G>A rs876660419
NM_000548.5(TSC2):c.2838-6C>T rs528706539
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro) rs886051792
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe) rs886051793
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=) rs557648435
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717
NM_000548.5(TSC2):c.3611-10G>A rs372045362
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp) rs777489742
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=) rs786202178
NM_000548.5(TSC2):c.3815-15G>A rs45480591
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4006-8C>T rs45517325
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=) rs886051794
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795
NM_000548.5(TSC2):c.4849+13G>A rs780953278
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.4990-7C>T rs45457095
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5161-9C>T rs45515893
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5260-15C>T rs45517416
NM_000548.5(TSC2):c.5267A>G (p.Glu1756Gly) rs886051797
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=) rs886051798
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.5(TSC2):c.630G>A (p.Ala210=) rs567756494
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017
NM_000548.5(TSC2):c.848+7G>A rs45442896
NM_000548.5(TSC2):c.849-13G>A rs886051787
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748

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