ClinVar Miner

List of variants in gene PLIN1 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002666.5(PLIN1):c.1113T>C (p.Pro371=) rs2304795 0.37380
NM_002666.5(PLIN1):c.1119C>T (p.Val373=) rs2304796 0.25348
NM_002666.5(PLIN1):c.1248C>T (p.Phe416=) rs8179074 0.04064
NM_002666.5(PLIN1):c.812C>T (p.Ala271Val) rs58361219 0.00633
NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val) rs146385147 0.00628
NM_002666.5(PLIN1):c.1043C>T (p.Ser348Leu) rs8179071 0.00586
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) rs74407840 0.00243
NM_002666.5(PLIN1):c.771+6T>C rs202141842 0.00013
NM_002666.5(PLIN1):c.993C>T (p.Leu331=) rs145637118 0.00005
NM_002666.5(PLIN1):c.975G>C (p.Leu325=) rs141040593 0.00003
NM_002666.5(PLIN1):c.309C>T (p.Pro103=) rs766818918 0.00002
NM_002666.5(PLIN1):c.373C>T (p.Arg125Cys) rs749463650 0.00001
NM_002666.5(PLIN1):c.1111C>T (p.Pro371Ser) rs1964355244
NM_002666.5(PLIN1):c.1556G>C (p.Arg519Pro) rs746427650
NM_002666.5(PLIN1):c.580C>G (p.Pro194Ala) rs6496589

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.