ClinVar Miner

List of variants reported as pathogenic for X-linked Emery-Dreifuss muscular dystrophy by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_154379237)_(154381523_?)del
NM_000117.3(EMD):c.674_678del (p.Leu225fs)	rs1557182692
NM_000117.3(EMD):c.82+1G>T	rs1557182214

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