ClinVar Miner

List of variants in gene AGPAT2 reported as likely benign for Berardinelli-Seip congenital lipodystrophy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_006412.4(AGPAT2):c.*212_*217dup rs145169122
NM_006412.4(AGPAT2):c.*239G>A rs56310643
NM_006412.4(AGPAT2):c.*535C>T rs138670030
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_006412.4(AGPAT2):c.-67G>C rs146341067
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) rs150180733
NM_006412.4(AGPAT2):c.317-7C>T rs74584184
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) rs73668354
NM_006412.4(AGPAT2):c.40_42CTG[5] (p.Leu17dup) rs745429291

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.