ClinVar Miner

List of variants in gene PLEC reported as uncertain significance for Limb-girdle muscular dystrophy, type 2Q

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Total variants: 5
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HGVS dbSNP
NM_000445.5(PLEC):c.11242C>T (p.Arg3748Cys) rs782134827
NM_000445.5(PLEC):c.2105T>C (p.Leu702Pro)
NM_000445.5(PLEC):c.5125C>T (p.Gln1709Ter)
NM_201380.4(PLEC):c.149G>A (p.Arg50His) rs199505812
NM_201380.4(PLEC):c.413G>A (p.Arg138Gln) rs374484619

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