ClinVar Miner

List of variants studied for Tuberous sclerosis 2 by Institute of Human Genetics, Cologne University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1119+1G>C rs45475793
NM_000548.5(TSC2):c.1582del (p.Leu528fs) rs1060499647
NM_000548.5(TSC2):c.975+3A>C rs1131692179

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