ClinVar Miner

List of variants reported as benign for brain-lung-thyroid syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.*210T>A rs10139625 0.65544
NM_001079668.3(NKX2-1):c.*436A>C rs79849967 0.00803
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001079668.3(NKX2-1):c.*579C>G rs566916288 0.00374
NM_001079668.3(NKX2-1):c.*209T>A rs572546897 0.00308
NM_001079668.3(NKX2-1):c.190C>A (p.Leu64Ile) rs201631950 0.00103
NM_001079668.3(NKX2-1):c.*179T>C rs550912157 0.00077
NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln) rs201979429 0.00048
NM_001079668.3(NKX2-1):c.*292dup rs140427692
NM_001079668.3(NKX2-1):c.-85G>T rs2076751
NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu) rs575848748

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.