ClinVar Miner

List of variants in gene LOXHD1 studied for Nonsyndromic genetic hearing loss

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del
NM_001384474.1(LOXHD1):c.1519-2A>T
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs) rs974766727
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter) rs1555679863
NM_001384474.1(LOXHD1):c.3619G>T (p.Gly1207Ter)
NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter) rs1166673793
NM_001384474.1(LOXHD1):c.6182A>G (p.Lys2061Arg)
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)

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.