ClinVar Miner

List of variants reported as pathogenic for Tuberous sclerosis syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)	rs45517169
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218
NM_000548.5(TSC2):c.599+1G>A	rs45460895

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