List of variants in gene TSC2 reported as likely pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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.1089del (p.Asn363fs)	rs2548522648
NM_000548.5(TSC2):c.1491del (p.Glu498fs)	rs137854346
NM_000548.5(TSC2):c.2170_2177del (p.Phe724fs)	rs2543732389
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)	rs1555510754
NM_000548.5(TSC2):c.3884-1G>T	rs137854079
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)	rs397514939
NM_000548.5(TSC2):c.481+1G>A	rs45488500
NM_000548.5(TSC2):c.599+1G>C

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