ClinVar Miner

List of variants in gene ACTB studied for Neurodevelopmental disorder

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_001101.5(ACTB):c.1078_1079dup (p.Gln360fs) rs2533845848
NM_001101.5(ACTB):c.166G>T (p.Asp56Tyr) rs1584263049
NM_001101.5(ACTB):c.31_33del (p.Asp11del) rs2128241455
NM_001101.5(ACTB):c.350AGA[1] (p.Lys118del) rs2533849974
NM_001101.5(ACTB):c.655G>A (p.Val219Ile)

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.