List of variants in gene ACTA2 reported as benign by GeneDx

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001613.4(ACTA2):c.990+123A>G	rs2119685	0.20885
NM_001613.4(ACTA2):c.-23-461G>A	rs72809340	0.10562
NM_001613.4(ACTA2):c.130-254T>C	rs45493098	0.09510
NM_001613.4(ACTA2):c.991-142C>A	rs3781211	0.08551
NM_001613.4(ACTA2):c.-23-615T>G	rs17114302	0.07966
NM_001613.4(ACTA2):c.370-19T>C	rs714887	0.07944
NM_001613.4(ACTA2):c.369+30G>C	rs12242191	0.07091
NM_001613.4(ACTA2):c.808+244A>T	rs11202908	0.04467
NM_001613.4(ACTA2):c.991-120C>T	rs3781212	0.04167
NM_001141945.3(ACTA2):c.-23-4021T>C	rs59889518	0.02946
NM_001613.4(ACTA2):c.369+89G>A	rs41284112	0.02732
NM_001613.4(ACTA2):c.808+278C>T	rs7895496	0.02367
NM_001613.4(ACTA2):c.455-17G>A	rs3816245	0.00636
NM_001613.4(ACTA2):c.417G>A (p.Gln139=)	rs111265233	0.00305
NM_001613.4(ACTA2):c.201G>C (p.Leu67=)	rs199773697	0.00010
NM_001613.4(ACTA2):c.-24+10G>A	rs748616499	0.00006
NM_001613.4(ACTA2):c.60G>A (p.Lys20=)	rs373232511	0.00004
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)	rs141933412	0.00003
NM_001613.4(ACTA2):c.258+270C>T	rs12415470
NM_001613.4(ACTA2):c.617-224C>T	rs3781207
NM_001613.4(ACTA2):c.991-288A>G	rs41284106
NR_125373.1(ACTA2-AS1):n.661G>T	rs7908852

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.