List of variants in gene TSC2 reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)	rs45517258
NM_000548.5(TSC2):c.3214del (p.Ser1072fs)	rs137854106
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter)	rs45517308
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter)	rs137854329
NM_000548.5(TSC2):c.481+1G>T	rs45488500
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	rs45507199
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter)	rs45517115
NM_000548.5(TSC2):c.871dup (p.Leu291fs)	rs137854052

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