ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.599+1G>A rs45460895

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