ClinVar Miner

List of variants studied for PPARG-related familial partial lipodystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138711.6(PPARG):c.1341C>T (p.His447=) rs3856806 0.11181
NM_138711.6(PPARG):c.-8-28078C>G rs1801282 0.08816
NM_138711.6(PPARG):c.1281A>G (p.Ser427=) rs41516544 0.00627
NM_138711.6(PPARG):c.1362C>T (p.Ile454=) rs149367249 0.00250
NM_138711.6(PPARG):c.150C>T (p.Asp50=) rs112174008 0.00154
NM_138711.6(PPARG):c.348T>C (p.Ala116=) rs147975759 0.00056
NM_138711.6(PPARG):c.391-3C>T rs370830238 0.00017
NM_138711.6(PPARG):c.417G>A (p.Leu139=) rs41415646 0.00015
NM_138711.6(PPARG):c.198C>T (p.Asp66=) rs753817211 0.00004
NM_138711.6(PPARG):c.1224A>G (p.Gln408=) rs28763894 0.00003
NM_138711.6(PPARG):c.145G>A (p.Glu49Lys) rs777334819 0.00003
NM_138711.6(PPARG):c.393T>C (p.Gly131=) rs201126401 0.00002
NM_138711.6(PPARG):c.-8-28133C>T rs200479885 0.00001
NM_138711.6(PPARG):c.629G>A (p.Arg210Gln) rs150296212 0.00001
NM_138711.6(PPARG):c.1116C>A (p.Phe372Leu) rs886057902
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu) rs121909244
NM_138711.6(PPARG):c.1419C>T (p.Asp473=) rs886057903
NM_138711.6(PPARG):c.431A>G (p.Asp144Gly) rs1211829538
NM_138711.6(PPARG):c.56A>C (p.Asp19Ala) rs762280243
NM_138711.6(PPARG):c.801C>G (p.Pro267=) rs13306747

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.