ClinVar Miner

List of variants in gene ACO2 reported by Breakthrough Genomics, Breakthrough Genomics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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 0.36768
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 0.18929
NM_001098.3(ACO2):c.941-51A>C rs41276321 0.06065
NM_001098.3(ACO2):c.36+148G>A rs117369326 0.03123
NM_001098.3(ACO2):c.684+82A>T rs73887733 0.01248
NM_001098.3(ACO2):c.836-58G>C rs61269773 0.01202
NM_001098.3(ACO2):c.486C>T (p.Gly162=) rs58996446 0.01050
NM_001098.3(ACO2):c.1371-47G>T rs116521260 0.00744
NM_001098.2(ACO2):c.-118G>C rs143152687 0.00707
NM_001098.3(ACO2):c.231C>T (p.Pro77=) rs150593227 0.00299
NM_001098.3(ACO2):c.26C>T (p.Thr9Ile) rs146048865 0.00004
NM_001098.3(ACO2):c.1049A>G (p.Asn350Ser) rs370742333 0.00001
NM_001098.3(ACO2):c.681C>A (p.Pro227=) rs776172150 0.00001
NM_001098.3(ACO2):c.174-52G>T rs2076199
NM_001098.3(ACO2):c.954A>T (p.Leu318=) rs767214846

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.