ClinVar Miner

List of variants reported as pathogenic for Tuberous sclerosis 2 by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1258-2A>G rs45517160
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.2220+1G>T rs137854361
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.600-2A>T rs45468592

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