ClinVar Miner

List of variants in gene TSC2 reported by Molecular Biology Laboratory, Fundació Puigvert

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.3251del (p.Asp1084fs) rs2089840483
NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter) rs45471791
NM_000548.5(TSC2):c.5161-1G>C rs45517404
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5:c.(1716+1_1717-1)_(2545+1_2546-1)del

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