ClinVar Miner

List of variants in gene MYH14 reported as pathogenic for Autosomal dominant nonsyndromic hearing loss 4A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001145809.2(MYH14):c.20C>A (p.Ser7Ter) rs119103279
NM_001145809.2(MYH14):c.2299C>A (p.Arg767Ser) rs28940307
NM_001145809.2(MYH14):c.3049C>T (p.Leu1017Phe) rs28940306
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001145809.2(MYH14):c.5990del (p.Thr1997fs) rs2123499275

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.