ClinVar Miner

List of variants reported for Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter)	rs1060499581

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