List of variants reported as pathogenic for Tuberous sclerosis 2 by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)	rs45517340	0.00003
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)	rs45517329
NM_000548.5(TSC2):c.4516del (p.His1506fs)	rs137854017
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218

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