ClinVar Miner

List of variants reported as uncertain significance for Tuberous sclerosis 2 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1923C>A (p.Ser641Arg) rs1555505825
NM_000548.5(TSC2):c.2222T>G (p.Leu741Arg) rs2088681390
NM_000548.5(TSC2):c.2551G>A (p.Ala851Thr) rs1459561397
NM_000548.5(TSC2):c.2836A>G (p.Ser946Gly) rs2151396480
NM_000548.5(TSC2):c.3806C>G (p.Ser1269Cys) rs1464179701
NM_000548.5(TSC2):c.539T>C (p.Leu180Pro)
NM_001394063.1(CFAP20DC):c.883C>T (p.Arg295Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.