ClinVar Miner

List of variants in gene TSC2 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 24
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HGVS dbSNP
NM_000548.3(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.3(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.3(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.3(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.3(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.4(TSC2):c.1294C>T (p.Gln432Ter) rs1114167462
NM_000548.4(TSC2):c.1447G>T (p.Glu483Ter) rs397515297
NM_000548.4(TSC2):c.1599+1G>A rs45517182
NM_000548.4(TSC2):c.1599+2T>C rs45517183
NM_000548.4(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.4(TSC2):c.2102_2103delCT (p.Ser701Terfs) rs1555506395
NM_000548.4(TSC2):c.2393_2394dup (p.Arg799Thrfs) rs1114167463
NM_000548.4(TSC2):c.2549T>C (p.Leu850Pro) rs45517248
NM_000548.4(TSC2):c.3095_3102dup (p.Phe1035Aspfs) rs1114167461
NM_000548.4(TSC2):c.360_361delAG (p.Arg120Serfs) rs876658878
NM_000548.4(TSC2):c.3777delC (p.Ser1259Argfs) rs1114167459
NM_000548.4(TSC2):c.4324G>T (p.Glu1442Ter) rs45469392
NM_000548.4(TSC2):c.4422_4423del (p.Arg1474Serfs) rs137854307
NM_000548.4(TSC2):c.4537delG (p.Glu1513Serfs) rs137854028
NM_000548.4(TSC2):c.5138G>A (p.Arg1713His) rs45517395
NM_000548.4(TSC2):c.5161-2A>G rs1114167468
NM_000548.4(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.4(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.4(TSC2):c.751G>T (p.Glu251Ter) rs1114167465

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