ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002666.5(PLIN1):c.580C>G (p.Pro194Ala) rs6496589 0.97561
NM_002666.5(PLIN1):c.772-23T>A rs894162 0.94615
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 0.00237
NM_002666.5(PLIN1):c.269T>C (p.Leu90Pro) rs139271800 0.00036
NM_002666.5(PLIN1):c.277C>T (p.Arg93Ter) rs150822845 0.00007
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) rs1003587869
NM_002666.5(PLIN1):c.1284_1286dup (p.Arg429_Glu430insArg)
NM_002666.5(PLIN1):c.1503C>A (p.Phe501Leu)
NM_002666.5(PLIN1):c.1559A>G (p.Lys520Arg)
NM_002666.5(PLIN1):c.358A>G (p.Ile120Val)
NM_002666.5(PLIN1):c.964-1G>C

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