ClinVar Miner

List of variants in gene LMNA studied for Muscular dystrophy

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) rs769561386 0.00001
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) rs267607634
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del) rs1553265761
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro) rs267607576
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) rs780302064
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.790_792del (p.Glu264del) rs1553265369
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) rs1553265433
NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del) rs1553265436

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