ClinVar Miner

List of variants in gene PLIN1 studied for PLIN1-related familial partial lipodystrophy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_002666.5(PLIN1):c.1191_1192del (p.Val398fs) rs1567075667
NM_002666.5(PLIN1):c.1210-1G>T rs1567075176
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) rs74407840

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