ClinVar Miner

List of variants in gene LMX1B reported as pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.176G>T (p.Cys59Phe) rs1554721879
NM_001174147.2(LMX1B):c.741+1G>T rs1427331961
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter) rs121909492
NM_001174147.2(LMX1B):c.746G>C (p.Arg249Pro) rs1056252582

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.