ClinVar Miner

List of variants reported as uncertain significance for Tuberous sclerosis syndrome by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) rs1319342312 0.00002
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) rs1060500961
NM_000548.5(TSC2):c.3832C>G (p.Leu1278Val) rs374146919
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr) rs878854112
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del) rs796053480

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