List of variants reported as pathogenic for tuberous sclerosis 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)	rs45438205	0.00001
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)	rs137854266
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)	rs45517169
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	rs397514914
NM_000548.5(TSC2):c.3397+4A>G
NM_000548.5(TSC2):c.4569+1G>A	rs1060500972
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)	rs45517412
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218

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