List of variants in gene TSC2 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 15

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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.1794C>G (p.Tyr598Ter)	rs45509094
NM_000548.5(TSC2):c.1817del (p.Ile606fs)
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	rs28934872
NM_000548.5(TSC2):c.2184C>A (p.Cys728Ter)	rs1555506557
NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter)	rs45475594
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)	rs45517270
NM_000548.5(TSC2):c.3284+1G>A	rs45517289
NM_000548.5(TSC2):c.4144_4145del (p.Leu1382fs)
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)	rs45455296
NM_000548.5(TSC2):c.4883dup (p.Asp1629fs)	rs2151585265
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)	rs45517396
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	rs45507199
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)	rs45517119
NM_000548.5(TSC2):c.855C>G (p.Tyr285Ter)	rs794726983

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