ClinVar Miner

List of variants studied for PPARG-related familial partial lipodystrophy by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_138711.6(PPARG):c.1124T>C (p.Leu375Pro) rs2125285337

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