ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 2 by Center for Human Genetics, Inc,Center for Human Genetics, Inc

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Total variants: 7
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HGVS dbSNP
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) rs1555511663
NM_000548.5(TSC2):c.4494-1G>A rs45517346
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg) rs794727602
NM_000548.5(TSC2):c.649-1G>A rs794727906
NM_000548.5(TSC2):c.849-1G>C rs45506396

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