List of variants in gene TSC2 reported as likely 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)	rs137853983
NM_000548.5(TSC2):c.2087G>T (p.Cys696Phe)	rs45486196
NM_000548.5(TSC2):c.3648del (p.Ser1217fs)
NM_000548.5(TSC2):c.3786dup (p.Pro1263fs)	rs2090170656
NM_000548.5(TSC2):c.3814+1G>C	rs397514902
NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg)
NM_000548.5(TSC2):c.5266del (p.Glu1756fs)	rs878854118

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