ClinVar Miner

List of variants in gene TSC2 reported as pathogenic for Tuberous sclerosis syndrome

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.1224del (p.Phe408fs)
NM_000548.5(TSC2):c.1254del (p.Arg418fs)
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) rs796053484
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1856T>A (p.Leu619Ter)
NM_000548.5(TSC2):c.225+2T>G
NM_000548.5(TSC2):c.2265_2268del (p.Glu755fs)
NM_000548.5(TSC2):c.2421del (p.Leu808fs)
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3214del (p.Ser1072fs) rs137854106
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter) rs45517287
NM_000548.5(TSC2):c.3326dup (p.Ala1110fs)
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.4067dup (p.Ile1357fs)
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4323dup (p.Glu1442fs) rs137854327
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) rs137854329
NM_000548.5(TSC2):c.4613dup (p.Ser1539fs)
NM_000548.5(TSC2):c.481+1G>T rs45488500
NM_000548.5(TSC2):c.4908_4912del (p.Asp1636fs)
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) rs45517115
NM_000548.5(TSC2):c.599+1G>A rs45460895
NM_000548.5(TSC2):c.871dup (p.Leu291fs) rs137854052
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg) rs45517139

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