ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by Laboratory of Metabolic Disorders,Peking University First Hospital

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_006412.4(AGPAT2):c.513del (p.Glu172fs) rs1564290914
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs) rs1564290079
NM_032667.6(BSCL2):c.210C>G (p.Tyr70Ter) rs557044760
NM_032667.6(BSCL2):c.212+1G>T rs1565152616
NM_032667.6(BSCL2):c.545_546insCCG (p.Glu182delinsAspArg) rs747297291
NM_032667.6(BSCL2):c.563_564GA[2] (p.Asn190fs) rs1565144681

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.