List of variants in gene TSC2 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)	rs150195368	0.00050
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)	rs45517294	0.00031
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)	rs45509392	0.00015
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe)	rs45478595	0.00011
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)	rs200140994	0.00006
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)	rs45486591	0.00005
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)	rs200004126	0.00003
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)	rs201979616	0.00001
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)	rs200532154
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp)	rs199848388
NM_000548.5(TSC2):c.5026C>G (p.Leu1676Val)	rs201707249
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)	rs201144475

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