ClinVar Miner

List of variants in gene ACO2 studied for optic atrophy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.836-54T>C rs203320 0.39646
NM_001098.3(ACO2):c.836-118C>T rs9619974 0.36682
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_001098.3(ACO2):c.1032+17C>T rs203319 0.33591
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_001098.3(ACO2):c.1370+48A>G rs12484694 0.18477
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_001098.3(ACO2):c.1038G>A (p.Lys346=) rs144269243 0.00055
NM_001098.3(ACO2):c.941-19C>T rs375652573 0.00007
NM_001098.3(ACO2):c.76C>T (p.Leu26=) rs1057518832 0.00001
NM_001098.3(ACO2):c.1254dup (p.Gly419fs)
NM_001098.3(ACO2):c.1348C>T (p.Pro450Ser)
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp) rs2006715
NM_001098.3(ACO2):c.1442A>C (p.Asp481Ala)
NM_001098.3(ACO2):c.1507G>T (p.Gly503Ter) rs2146139034
NM_001098.3(ACO2):c.174-52G>T rs2076199
NM_001098.3(ACO2):c.317C>T (p.Ala106Val) rs2146115810
NM_001098.3(ACO2):c.36+262C>T
NM_001098.3(ACO2):c.36G>A (p.Gln12=)
NM_001098.3(ACO2):c.75C>T (p.Val25=) rs1057518833

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.