ClinVar Miner

List of variants studied for Tuberous sclerosis 2 by Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1090_1099del (p.Ile364fs) rs2548522476
NM_000548.5(TSC2):c.1361+2T>C rs397515301
NM_000548.5(TSC2):c.2126T>G (p.Val709Gly) rs1326276839
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2724dup (p.Val909fs) rs2543911183
NM_000548.5(TSC2):c.875_876insTCGCGCCCCTGCT (p.Gly294fs) rs2548494387

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