ClinVar Miner

List of variants in gene PLIN1 reported as pathogenic for PLIN1-related familial partial lipodystrophy

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002666.5(PLIN1):c.1191_1192del (p.Val398fs) rs1567075667
NM_002666.5(PLIN1):c.1201_1202dup (p.Val402fs) rs2141525540
NM_002666.5(PLIN1):c.1210-1G>T rs1567075176
NM_002666.5(PLIN1):c.1210-1del rs1964333023

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