ClinVar Miner

List of variants in gene combination ACTC1, LOC101928174 studied for Primary familial hypertrophic cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_005159.4(ACTC1):c.129+23dupC rs148433308
NM_005159.5(ACTC1):c.1124A>G (p.Lys375Arg) rs869025355
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser) rs1555418921
NM_005159.5(ACTC1):c.272C>A (p.Thr91Asn) rs730880037
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) rs193922681
NM_005159.5(ACTC1):c.751A>G (p.Thr251Ala) rs730880039
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr) rs869025354

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.