List of variants in gene ACTA2 reported as likely pathogenic for not provided

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)	rs121434526	0.00001
NM_001613.4(ACTA2):c.1076T>G (p.Ile359Ser)	rs2133237860
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly)	rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)	rs794728021
NM_001613.4(ACTA2):c.137T>G (p.Met46Arg)	rs1554841843
NM_001613.4(ACTA2):c.138G>T (p.Met46Ile)	rs878854466
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu)	rs1060500134
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp)	rs1845899655
NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu)	rs794728025
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)	rs727502878
NM_001613.4(ACTA2):c.766C>A (p.Arg256Ser)	rs886038852
NM_001613.4(ACTA2):c.773G>A (p.Arg258His)	rs121434527
NM_001613.4(ACTA2):c.991-1G>C	rs794728031
NM_001613.4(ACTA2):c.991-1del	rs1589388907

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.