ClinVar Miner

List of variants in gene combination AIFM1, RAB33A reported as pathogenic for Deafness, X-linked 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432

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.