ClinVar Miner

List of variants in gene TSC2 reported as pathogenic by OMIM

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Total variants: 18
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HGVS dbSNP
NM_000548.3(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.3(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.3(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.3(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.3(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.3(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.4(TSC2):c.1322G>A (p.Trp441Ter) rs45515894
NM_000548.4(TSC2):c.1432C>T (p.Gln478Ter) rs121964862
NM_000548.4(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.4(TSC2):c.2150T>G (p.Leu717Arg) rs45517214
NM_000548.4(TSC2):c.2355+2_2355+5del rs137854250
NM_000548.4(TSC2):c.2713C>G (p.Arg905Gly) rs45517258
NM_000548.4(TSC2):c.34A>T (p.Lys12Ter) rs45512692
NM_000548.4(TSC2):c.4639G>A (p.Val1547Ile) rs745895675
NM_000548.4(TSC2):c.4642delC (p.Leu1548Cysfs) rs137854083
NM_000548.4(TSC2):c.5161delA (p.Met1721Trpfs) rs137854251
NM_000548.4(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687Leufs) rs137854337

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