List of variants studied for Baraitser-Winter cerebrofrontofacial syndrome by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.1097dup (p.Ser368fs)	rs1554329078
NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter)	rs1554329068
NM_001101.5(ACTB):c.193C>G (p.Leu65Val)	rs281875332
NM_001101.5(ACTB):c.329del (p.Leu110fs)	rs1554329523
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys)	rs397515470
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp)	rs281875331
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile)	rs587779774
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys)	rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His)	rs281875334
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile)	rs281875325
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)	rs11549190
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)	rs281875326
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys)	rs281875327
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)	rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)	rs281875329

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.