ClinVar Miner

List of variants in gene LMNA reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_005572.3(LMNA):c.1566C>A (p.Cys522Ter) rs149339264
NM_170707.3(LMNA):c.1057C>T (p.Gln353Ter) rs267607623
NM_170707.3(LMNA):c.1157+1G>A rs267607590
NM_170707.3(LMNA):c.1157G>C (p.Arg386Thr) rs267607545
NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.3(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.3(LMNA):c.305T>C (p.Leu102Pro) rs1553262007
NM_170707.3(LMNA):c.568C>T (p.Arg190Trp) rs59026483
NM_170707.3(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.3(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.3(LMNA):c.961C>T (p.Arg321Ter) rs267607554

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