ClinVar Miner

List of variants reported as pathogenic for familial partial lipodystrophy by OMIM

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000681.4(ADRA2A):c.*427A>G rs553668 0.77449
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00012
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_001128203.2(PLAAT3):c.16-4823_118+167del
NM_001128203.2(PLAAT3):c.286dup (p.Ala96fs) rs2495548886
NM_001128203.2(PLAAT3):c.339C>A (p.Cys113Ter) rs373632324
NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter) rs587776968
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.1308_1309del (p.Pro439fs) rs2141523598
NM_005357.4(LIPE):c.1519_1520dup (p.Ser508fs) rs2514467771
NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter) rs766817317
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_138711.6(PPARG):c.1074T>A (p.Phe358Leu) rs72551363
NM_138711.6(PPARG):c.1183C>T (p.Arg395Cys) rs72551364
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu) rs121909244
NM_138711.6(PPARG):c.478T>A (p.Cys160Ser) rs121909245
NM_138711.6(PPARG):c.490C>T (p.Arg164Trp) rs121909246
NM_138711.6(PPARG):c.862G>A (p.Val288Met) rs72551362
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1488+5G>C rs267607543
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn) rs61214927

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