ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795 0.00002
NM_000548.5(TSC2):c.1137G>A (p.Glu379=) rs1057519260

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