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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002666.5(PLIN1):c.772-23T>A	rs894162	0.94936
NM_002666.5(PLIN1):c.1113T>C (p.Pro371=)	rs2304795	0.37380
NM_002666.5(PLIN1):c.1119C>T (p.Val373=)	rs2304796	0.25348
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met)	rs74407840	0.00243
NM_002666.5(PLIN1):c.269T>C (p.Leu90Pro)	rs139271800	0.00041
NM_002666.5(PLIN1):c.1033A>G (p.Thr345Ala)	rs779890983	0.00001
NM_002666.5(PLIN1):c.691C>T (p.Arg231Ter)	rs974117029	0.00001
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
NM_002666.5(PLIN1):c.1280A>G (p.Glu427Gly)
NM_002666.5(PLIN1):c.580C>G (p.Pro194Ala)	rs6496589

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