ClinVar Miner

List of variants in gene PLIN1 studied for PLIN1-related familial partial lipodystrophy

Included ClinVar conditions (1):

Familial partial lipodystrophy 4

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP
NM_002666.4(PLIN1):c.1191_1192delAG (p.Val398Glyfs)
NM_002666.4(PLIN1):c.1210-1G>T
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met)

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.