ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic for Congenital muscular dystrophy due to partial LAMA2 deficiency

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Total variants: 5
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NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574
NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573
NM_000426.3(LAMA2):c.3924+2T>C rs1554269966
NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575
NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576

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