List of variants reported as pathogenic for Baraitser-Winter cerebrofrontofacial syndrome by Department of Genetics, Robert DEBRE University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe)	rs281875332
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu)	rs587779769
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser)	rs587779770
NM_001101.5(ACTB):c.224T>C (p.Ile75Thr)	rs587779771
NM_001101.5(ACTB):c.307G>C (p.Val103Leu)	rs587779772
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys)	rs397515470
NM_001101.5(ACTB):c.34A>C (p.Asn12His)	rs281875331
NM_001101.5(ACTB):c.356T>C (p.Met119Thr)	rs587779773
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile)	rs587779774
NM_001101.5(ACTB):c.446C>T (p.Thr149Ile)	rs587779775
NM_001101.5(ACTB):c.586C>A (p.Arg196Ser)	rs281875333
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys)	rs281875333
NM_001101.5(ACTB):c.611C>G (p.Ala204Gly)	rs587779776
NM_001101.5(ACTB):c.625G>A (p.Val209Met)	rs587779777
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)	rs11549190

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.