List of variants reported as pathogenic for tuberous sclerosis 2 by Molecular Biology Laboratory, Fundació Puigvert

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Total variants: 6

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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:c.(1716+1_1717-1)_(2545+1_2546-1)del

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