ClinVar Miner

List of variants in gene LMX1A studied for autosomal dominant nonsyndromic hearing loss 7

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_177398.4(LMX1A):c.1050T>C (p.Asp350=) rs1354509 0.99887
NM_177398.4(LMX1A):c.349C>T (p.Leu117=) rs10753668 0.23781
NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser) rs1571177726
NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)
NM_177398.4(LMX1A):c.331del (p.Gln111fs) rs2102637875
NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)
NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly)
NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter) rs1396081975
NM_177398.4(LMX1A):c.721G>C (p.Val241Leu) rs1571147567
NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr)
NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)

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.