List of variants in gene ACTG1 reported as likely pathogenic for Baraitser-winter syndrome 2

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His)	rs1555666392
NM_001614.5(ACTG1):c.118C>T (p.His40Tyr)	rs1057518673
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr)	rs11549196
NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys)	rs2031775804
NM_001614.5(ACTG1):c.459G>A (p.Met153Ile)	rs2143779081
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile)	rs587780275
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly)	rs11549225
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp)	rs1598548614
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)	rs1555666715
NM_001614.5(ACTG1):c.629G>A (p.Arg210His)	rs1555666709
NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu)	rs1598548256
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)	rs281875328
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu)	rs11549191

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.