ClinVar Miner

List of variants in gene ACTG1 reported as uncertain significance for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) rs182162229
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu)

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.