List of variants reported as pathogenic for Tuberous sclerosis 2 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter)	rs1229561585
NM_000548.5(TSC2):c.1460C>G (p.Ser487Ter)
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)	rs45469298
NM_000548.5(TSC2):c.3682del (p.Leu1228fs)	rs2544155741
NM_000548.5(TSC2):c.4202dup (p.Gly1402fs)
NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter)	rs45455897
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)	rs45479192
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)	rs45455296
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)	rs45483392

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