ClinVar Miner

List of variants reported as pathogenic for PPARG-related familial partial lipodystrophy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
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.1183C>T (p.Arg395Cys) rs72551364
NM_138711.6(PPARG):c.1271del (p.Pro424fs) rs770557781
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu) rs121909244
NM_138711.6(PPARG):c.258T>G (p.Tyr86Ter)
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.530-1G>A rs2125252529
NM_138711.6(PPARG):c.862G>A (p.Val288Met) rs72551362
NM_138711.6(PPARG):c.924_928del (p.Asp308fs) rs1553650477

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