ClinVar Miner

List of variants in gene ACTA1 reported by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg) rs1553255312
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.1127G>A (p.Cys376Tyr)
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.4(ACTA1):c.1A>G (p.Met1Val) rs1659988389
NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr) rs1659975786
NM_001100.4(ACTA1):c.350del (p.Asn117fs) rs1659975666
NM_001100.4(ACTA1):c.400A>G (p.Met134Val) rs1659974377
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro) rs1558081797
NM_001100.4(ACTA1):c.82G>C (p.Ala28Pro) rs546670743

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.