ClinVar Miner

Variants in gene CHST3 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) rs564028722 0.00049
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00013
NM_004273.5(CHST3):c.423G>A (p.Thr141=) rs376107245 0.00011
NM_004273.5(CHST3):c.540C>T (p.Asn180=) rs748812857 0.00004
NM_004273.5(CHST3):c.195C>T (p.Thr65=) rs759935618
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496

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.