ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 2 by Mendelics

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Total variants: 4
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NM_000548.5(TSC2):c.4005+2T>C rs137854254
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup) rs1596439426
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606

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