ClinVar Miner

List of variants in gene TSC2 reported as benign by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122

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