ClinVar Miner

List of variants in gene TSC2 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Gene type:
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Total variants: 3
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NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199

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