ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 36
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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.362A>G (p.Tyr121Cys) rs1354592503 0.00001
NM_138711.6(PPARG):c.1074T>A (p.Phe358Leu) rs72551363
NM_138711.6(PPARG):c.1116C>A (p.Phe372Leu) rs886057902
NM_138711.6(PPARG):c.1124T>C (p.Leu375Pro) rs2125285337
NM_138711.6(PPARG):c.1183C>T (p.Arg395Cys) rs72551364
NM_138711.6(PPARG):c.1262T>C (p.Leu421Pro) rs1553653993
NM_138711.6(PPARG):c.1271del (p.Pro424fs) rs770557781
NM_138711.6(PPARG):c.1318C>T (p.Leu440Phe)
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.258T>G (p.Tyr86Ter)
NM_138711.6(PPARG):c.353G>A (p.Gly118Glu) rs2125177235
NM_138711.6(PPARG):c.380A>G (p.Glu127Gly) rs1553643326
NM_138711.6(PPARG):c.431A>G (p.Asp144Gly) rs1211829538
NM_138711.6(PPARG):c.478T>A (p.Cys160Ser) rs121909245
NM_138711.6(PPARG):c.490C>T (p.Arg164Trp) rs121909246
NM_138711.6(PPARG):c.491G>A (p.Arg164Gln) rs148195788
NM_138711.6(PPARG):c.56A>C (p.Asp19Ala) rs762280243
NM_138711.6(PPARG):c.801C>G (p.Pro267=) rs13306747
NM_138711.6(PPARG):c.841C>T (p.Gln281Ter) rs2125284331
NM_138711.6(PPARG):c.862G>A (p.Val288Met) rs72551362
NM_138711.6(PPARG):c.881T>C (p.Ile294Thr) rs1378972597
NM_138711.6(PPARG):c.924_928del (p.Asp308fs) rs1553650477

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