ClinVar Miner

List of variants in gene EYA4 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) rs144415484 0.00037
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr) rs146999911 0.00015
NM_004100.5(EYA4):c.9C>T (p.Asp3=) rs374322196 0.00009
NM_004100.5(EYA4):c.741A>G (p.Pro247=) rs752226573 0.00004
NM_004100.5(EYA4):c.805-12T>C rs375862613 0.00002
NM_004100.5(EYA4):c.237A>G (p.Ala79=) rs727504840
NM_004100.5(EYA4):c.744A>G (p.Ser248=) rs397516879

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.