ClinVar Miner

List of variants in gene MIR661, PLEC studied 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

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NC_000008.10:g.(?_144990345)_(145049537_?)dup

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