ClinVar Miner

List of variants in gene PLEC reported as likely pathogenic for Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy

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Total variants: 5
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HGVS dbSNP
NC_000008.10:g.(?_145008783)_(145018851_?)dup
NM_000445.5(PLEC):c.1141C>T (p.Gln381Ter) rs1060499581
NM_000445.5(PLEC):c.11431C>T (p.Gln3811Ter) rs1554675388
NM_000445.5(PLEC):c.3342-1G>A
NM_000445.5(PLEC):c.9081_9082delinsTT (p.Gln3028Ter) rs1554683108

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