ClinVar Miner

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

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Total variants: 3
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NM_000426.3(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.3(LAMA2):c.6520del (p.Asn2173_Val2174insTer) rs776548207
NM_000426.3(LAMA2):c.8245-2A>G rs914395925

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