List of variants in gene TSC1 reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	rs118203542
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)	rs118203595
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)	rs118203662
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter)	rs118203700
NM_000368.5(TSC1):c.2739_2746dup (p.Leu916fs)
NM_000368.5(TSC1):c.73_85dup (p.Phe29fs)	rs2539143018

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