ClinVar Miner

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

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Gene type:
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Total variants: 78
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HGVS dbSNP
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.*44T>C rs188991734
NM_000548.5(TSC2):c.*4C>T rs368282661
NM_000548.5(TSC2):c.*55_*58TAAA[1] rs137854184
NM_000548.5(TSC2):c.*5G>A rs201342697
NM_000548.5(TSC2):c.-72T>A
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155
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.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.1593C>T (p.Ile531=) rs45517180
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) rs45517206
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.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.5(TSC2):c.2097+13G>A rs367915255
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2331T>C (p.His777=) rs139963953
NM_000548.5(TSC2):c.2356-15T>A rs189674303
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly) rs200929621
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2640-13C>T rs201184637
NM_000548.5(TSC2):c.270G>A (p.Gln90=) rs779310889
NM_000548.5(TSC2):c.2742+13C>T rs45517260
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2967-6C>T rs200746335
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.5(TSC2):c.297C>T (p.His99=) rs752498350
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
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.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3815-15G>A rs45480591
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
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.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.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.5(TSC2):c.4849+13G>A rs780953278
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684
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.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042
NM_000548.5(TSC2):c.5260-15C>T rs45517416
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys) rs376017665
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.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.975+13C>T rs200564575

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