List of variants studied for Tuberous sclerosis 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln)	rs749593050	0.00001
NM_000548.5(TSC2):c.2350A>G (p.Lys784Glu)	rs751172150	0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)	rs45438205	0.00001
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)	rs775395648	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	rs2544072093
NM_000548.5(TSC2):c.3671ACA[1] (p.Asn1225del)	rs2151481692
NM_000548.5(TSC2):c.3908G>A (p.Gly1303Glu)	rs2151510757
NM_000548.5(TSC2):c.4569+1G>A	rs1060500972
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)	rs2090628516
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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