List of variants in gene TSC2 reported as pathogenic by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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.1458del (p.Ser487fs)	rs1567437155
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	rs45517179
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)	rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	rs28934872
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)	rs137853993
NM_000548.5(TSC2):c.4582G>T (p.Glu1528Ter)
NM_000548.5(TSC2):c.5161-1G>A	rs45517404
NM_000548.5(TSC2):c.976-15G>A	rs45517150

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