ClinVar Miner

List of variants reported as pathogenic for congenital generalized lipodystrophy type 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_012232.6(CAVIN1):c.135del (p.Lys45fs) rs1567782493
NM_012232.6(CAVIN1):c.160del (p.Val54fs) rs1567782465
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs) rs1489315815
NM_012232.6(CAVIN1):c.471+1G>T rs866504928
NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs) rs1567776514
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs) rs1207466199
NM_012232.6(CAVIN1):c.526del (p.Glu176fs) rs1567776490
NM_012232.6(CAVIN1):c.696dup (p.Lys233fs) rs1427062799

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.