ClinVar Miner

List of variants in gene LMNA reported as pathogenic for Familial partial lipodystrophy 2

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Total variants: 17
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HGVS dbSNP
NM_005572.3(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_005572.3(LMNA):c.1444C>T (p.Arg482Trp) rs57920071
NM_005572.3(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_005572.3(LMNA):c.1458G>T (p.Lys486Asn) rs59981161
NM_005572.3(LMNA):c.1488+5G>C rs267607543
NM_005572.3(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.3(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.3(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.3(LMNA):c.1195C>T (p.Arg399Cys) rs58672172
NM_170707.3(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.3(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.3(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.3(LMNA):c.1745G>A (p.Arg582His) rs57830985
NM_170707.3(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.3(LMNA):c.1961dupG (p.Thr655Asnfs) rs863225024
NM_170707.3(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.3(LMNA):c.688G>A (p.Asp230Asn) rs61214927

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