ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_001282625.1(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_005572.3(LMNA):c.1381-2A>G rs267607600
NM_005572.3(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.3(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.3(LMNA):c.91_93delGAG (p.Glu31del) rs864309525
NM_170707.3(LMNA):c.94A>G (p.Lys32Glu) rs1553261891

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