ClinVar Miner

List of variants studied for Tuberous sclerosis 2 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836 0.00005
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val) rs397514901 0.00003
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939 0.00002
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala) rs757113497 0.00001
NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr) rs574205203 0.00001
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val) rs754276150 0.00001
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616 0.00001
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919 0.00001
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser) rs747310967 0.00001
NM_000548.5(TSC2):c.2804C>T (p.Ala935Val) rs1555508975
NM_000548.5(TSC2):c.2838-3T>C rs553942147
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe) rs371514669
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.5069-10G>A
NM_000548.5(TSC2):c.5371G>A (p.Gly1791Ser) rs45517421

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