ClinVar Miner

List of variants reported as pathogenic for Tuberous sclerosis syndrome by All of Us Research Program, National Institutes of Health

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1412del (p.Asp471fs) rs2131863156
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) rs796053484
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259

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