List of variants studied for congenital generalized lipodystrophy type 4 by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs)	rs1489315815	0.00001
NM_012232.6(CAVIN1):c.135del (p.Lys45fs)	rs1567782493
NM_012232.6(CAVIN1):c.160del (p.Val54fs)	rs1567782465
NM_012232.6(CAVIN1):c.259C>T (p.Gln87Ter)
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.