List of variants in gene TSC2 reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)	rs45517250
NM_000548.5(TSC2):c.2660_2661del (p.Cys887fs)	rs137854232
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)	rs45517258
NM_000548.5(TSC2):c.3364del (p.Arg1122fs)	rs2151446681
NM_000548.5(TSC2):c.3610+1G>A	rs45517299
NM_000548.5(TSC2):c.3742_3751del (p.Ala1248fs)	rs2151483315
NM_000548.5(TSC2):c.3884-1G>C	rs137854079
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)	rs137854175
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)	rs45479192
NM_000548.5(TSC2):c.4810_4811del (p.Gly1604fs)	rs2151575311
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218
Single allele

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