ClinVar Miner

List of variants in gene combination ACTG1, LOC130061940 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914 0.00087
NM_001614.5(ACTG1):c.105C>T (p.Val35=) rs11549193 0.00048
NM_001614.5(ACTG1):c.66T>G (p.Ala22=) rs149682185 0.00045
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 0.00009
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_001614.5(ACTG1):c.51C>T (p.Cys17=) rs201570725 0.00002

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.