ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 2 by Athena Diagnostics Inc

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Total variants: 6
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HGVS dbSNP
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2453_2455TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro) rs45517395

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