ClinVar Miner

List of variants in gene LAMA2 studied for Congenital muscular dystrophy due to partial LAMA2 deficiency

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Total variants: 15
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NM_000426.3(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891
NM_000426.3(LAMA2):c.1467+1G>A rs1554234161
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.463G>T (p.Glu155Ter) rs756045943
NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575
NM_000426.3(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.3(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445
NM_000426.3(LAMA2):c.6260C>A (p.Ser2087Tyr) rs1299914386
NM_000426.3(LAMA2):c.6520del (p.Asn2173_Val2174insTer) rs776548207
NM_000426.3(LAMA2):c.6820del (p.Asp2274fs) rs1562581261
NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.3(LAMA2):c.8245-2A>G rs914395925

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