List of variants studied for Lymphangiomyomatosis; Tuberous sclerosis syndrome

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)	rs1748	0.35806
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)	rs1073123	0.15387
NM_000548.5(TSC2):c.482-3C>T	rs1800720	0.12927
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)	rs4962081	0.08329
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)	rs34012042	0.04830
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=)	rs45517384	0.01015
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)	rs45517423	0.00156
NM_000548.5(TSC2):c.5160+37C>T	rs45517400	0.00032
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)	rs35660529	0.00019
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser)	rs45457694	0.00004
NM_000548.5(TSC2):c.1716+16G>A	rs45517189	0.00004
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=)	rs118203746	0.00002
NM_000368.5(TSC1):c.491G>A (p.Trp164Ter)	rs118203387
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)	rs118203461
NM_000548.5(TSC2):c.61_62del	rs36032671
NM_000548.5(TSC2):c.1600-14C>T	rs45517185
NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter)	rs45462192
NM_000548.5(TSC2):c.2768dup (p.Phe924_Asp925insTer)	rs137854402
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter)	rs45477491
NM_000548.5(TSC2):c.3755C>G (p.Ser1252Ter)	rs45517309
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)	rs397515167
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218
NM_000548.5(TSC2):c.760G>T (p.Glu254Ter)	rs45517126
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg)	rs45517139

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