ClinVar Miner

List of variants in gene PLEC reported as pathogenic for Epidermolysa bullosa simplex and limb girdle muscular dystrophy

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Total variants: 7
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HGVS dbSNP
NM_000445.5(PLEC):c.12043dup (p.Glu4015fs) rs864309674
NM_000445.5(PLEC):c.2668_2676CAGGAGGCC[1] (p.890_892QEA[1]) rs786205252
NM_000445.5(PLEC):c.5097_5104GGCGCGGC[1] (p.Arg1702fs) rs786205254
NM_000445.5(PLEC):c.5815del (p.Leu1939fs) rs786205253
NM_000445.5(PLEC):c.5856_5863dup (p.Leu1955fs) rs786205251
NM_000445.5(PLEC):c.6169C>T (p.Gln2057Ter) rs387906801
NM_000445.5(PLEC):c.6955C>T (p.Arg2319Ter) rs387906802

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