ClinVar Miner

List of variants in gene LMNA reported as pathogenic for Congenital muscular dystrophy, LMNA-related

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Total variants: 5
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HGVS dbSNP
NM_005572.3(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.3(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.3(LMNA):c.1139T>C (p.Leu380Ser) rs121912495
NM_170707.3(LMNA):c.428C>T (p.Ser143Phe) rs58912633
NM_170707.3(LMNA):c.94_96delAAG (p.Lys32del) rs60872029

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