ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_000426.3(LAMA2):c.1084A>T (p.Arg362Ter)
NM_000426.3(LAMA2):c.1467+1G>A rs1554234161
NM_000426.3(LAMA2):c.463G>T (p.Glu155Ter)
NM_000426.3(LAMA2):c.6260C>A (p.Ser2087Tyr)
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.3:c.6820delG
NM_001079823.1(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445

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