List of variants in gene LMX1B reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001174147.2(LMX1B):c.140-37_140-21del
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter)	rs121909489
NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)
NM_001174147.2(LMX1B):c.353G>T (p.Cys118Phe)	rs121909488
NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter)	rs121909487
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln)	rs121909491
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter)	rs121909490
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)	rs1191455921
NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro)	rs1191455921
NM_001174147.2(LMX1B):c.741+1G>A	rs1427331961
NM_001174147.2(LMX1B):c.741+1G>T	rs1427331961
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter)	rs121909492
NM_001174147.2(LMX1B):c.766dup (p.Thr256fs)
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys)	rs121909486

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.