ClinVar Miner

Variants in gene HMGCS2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638 0.00026
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs) rs1553241079 0.00004
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) rs137852639 0.00001
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro) rs372079931
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter) rs145838142

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.