ClinVar Miner

List of variants in gene CHSY1 reported as benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) rs2005180 0.05576
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) rs76457230 0.02740
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) rs3803423 0.01721
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) rs74752435 0.01562
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) rs3803422 0.01536
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) rs3743192 0.00111

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.