ClinVar Miner

List of variants in gene LMNA reported as likely pathogenic for Cardiomyopathy

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170707.4(LMNA):c.1032dup (p.Met345fs)
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421
NM_170707.4(LMNA):c.1364_1365del (p.Arg455fs) rs1651642668
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1845_1857del (p.Ala617fs) rs2102901937
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.639+1G>A rs869125101
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170707.4(LMNA):c.991_992del (p.Arg331fs) rs1553265647

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