ClinVar Miner

List of variants in gene ACTA1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_001100.4(ACTA1):c.324C>A (p.Thr108=) rs41271479 0.00011
NM_001100.4(ACTA1):c.1101C>T (p.Ala367=) rs768081822 0.00001
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.4(ACTA1):c.1069A>G (p.Met357Val) rs1553255298
NM_001100.4(ACTA1):c.109G>C (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.149G>T (p.Gly50Val) rs1659980066
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.4(ACTA1):c.392T>C (p.Val131Ala)
NM_001100.4(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.4(ACTA1):c.455-2A>G rs112919437
NM_001100.4(ACTA1):c.455-2A>T rs112919437
NM_001100.4(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.4(ACTA1):c.617-8C>T
NM_001100.4(ACTA1):c.646G>A (p.Glu216Lys)
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.73G>A (p.Gly25Arg) rs1659985824
NM_001100.4(ACTA1):c.773G>A (p.Arg258His) rs1659953887
NM_001100.4(ACTA1):c.90G>C (p.Arg30Ser) rs113546590

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.