ClinVar Miner

List of variants in gene TSC2 reported as not provided for Lymphangiomyomatosis; Tuberous sclerosis syndrome

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Total variants: 19
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HGVS dbSNP
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1716+16G>A rs45517189
NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter) rs45462192
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2768dup (p.Phe924_Asp925insTer) rs137854402
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3755C>G (p.Ser1252Ter) rs45517309
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.5160+37C>T rs45517400
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.760G>T (p.Glu254Ter) rs45517126
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg) rs45517139

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