ClinVar Miner

List of variants reported as pathogenic for brain-lung-thyroid syndrome by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)
NM_001079668.3(NKX2-1):c.216del (p.Arg72fs)
NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs)
NM_001079668.3(NKX2-1):c.344del (p.Gly115fs) rs587776709
NM_001079668.3(NKX2-1):c.423del (p.Gly142fs)
NM_001079668.3(NKX2-1):c.464-2A>G rs587776708
NM_001079668.3(NKX2-1):c.474del (p.Phe158fs)
NM_001079668.3(NKX2-1):c.583del (p.Arg195fs)
NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln) rs1555349221
NM_001079668.3(NKX2-1):c.622C>T (p.Arg208Ter)
NM_001079668.3(NKX2-1):c.647del (p.Leu216fs)
NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter)
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001079668.3(NKX2-1):c.711C>G (p.Ile237Met)

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.