ClinVar Miner

List of variants in gene ACO2 reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.486C>T (p.Gly162=) rs58996446 0.01050
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001098.3(ACO2):c.231C>T (p.Pro77=) rs150593227 0.00299
NM_001098.3(ACO2):c.84A>G (p.Gln28=) rs150850549 0.00148
NM_001098.3(ACO2):c.1605+12C>T rs188696280 0.00123
NM_001098.3(ACO2):c.1605+7G>A rs199660399 0.00078
NM_001098.3(ACO2):c.1296+18C>T rs200176862 0.00044
NM_001098.3(ACO2):c.933C>T (p.Gly311=) rs200120553 0.00021
NM_001098.3(ACO2):c.432+19T>C rs200362666 0.00018
NM_001098.3(ACO2):c.1605+3G>A rs563180921 0.00004
NM_001098.3(ACO2):c.1049A>G (p.Asn350Ser) rs370742333 0.00001
NM_001098.3(ACO2):c.1482+16T>C rs201905826 0.00001
NM_001098.3(ACO2):c.685-11dup

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.