ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 1 by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.4378C>T (p.Leu1460Phe) rs1580456602 0.00001
NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg) rs775226349 0.00001
NM_133433.4(NIPBL):c.226del (p.His76fs) rs1580323151
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.6275T>G (p.Leu2092Arg) rs1579557913
NM_133433.4(NIPBL):c.6763+5G>A rs2149737162
NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val) rs2149750114

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.