ClinVar Miner

List of variants in gene MYO7A reported as likely pathogenic for Deafness, autosomal recessive 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.3(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.3(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.3(MYO7A):c.3764delA (p.Lys1255Argfs) rs111033347
NM_000260.3(MYO7A):c.397dupC (p.His133Profs) rs111033187
NM_000260.3(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.1798-1G>T
NM_000260.4(MYO7A):c.6237+1G>A

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.