ClinVar Miner

List of variants in gene MYO9A reported as pathogenic for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His) rs142345927 0.00245
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly) rs150726107 0.00017
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) rs374155761 0.00003
NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His) rs149046541
NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu) rs1567176190

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.