List of variants studied for Baraitser-Winter syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)	rs886041309
NM_001101.5(ACTB):c.169G>A (p.Glu57Lys)
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu)	rs587779769
NM_001101.5(ACTB):c.250A>G (p.Lys84Glu)
NM_001101.5(ACTB):c.5A>T (p.Asp2Val)
NM_001101.5(ACTB):c.602C>T (p.Thr201Ile)
NM_001101.5(ACTB):c.721G>A (p.Glu241Lys)	rs2128241271

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.