ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.5(TSC2):c.1503C>A (p.Asp501Glu)
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln) rs376285784
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296
NM_000548.5(TSC2):c.1912G>T (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn) rs1013995962
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.5(TSC2):c.2297T>C (p.Val766Ala) rs780682938
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) rs767252128
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val) rs1596356585
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2546-5C>T rs45517247
NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys) rs878854084
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578
NM_000548.5(TSC2):c.3622T>C (p.Trp1208Arg) rs45482795
NM_000548.5(TSC2):c.3874T>C (p.Ser1292Pro) rs1166042912
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn) rs375883030
NM_000548.5(TSC2):c.4006-6T>C rs1060500953
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr) rs147719291
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=) rs1285012780
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392
NM_000548.5(TSC2):c.5161-4C>G rs45517406
NM_000548.5(TSC2):c.5307C>T (p.His1769=) rs562220073
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg) rs45517418
NM_000548.5(TSC2):c.5330C>A (p.Pro1777His)
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283
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.552C>T (p.Val184=) rs199991910
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496
NM_000548.5(TSC2):c.717C>G (p.Phe239Leu) rs1567408727
NM_000548.5(TSC2):c.759C>T (p.Cys253=) rs45517125
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) rs373818076

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