ClinVar Miner

List of variants in gene EMD reported as pathogenic for Emery-Dreifuss muscular dystrophy, X-linked

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Total variants: 10
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EMD, 2-BP DEL, NT564
EMD, 2-BP INS, NT198
EMD, 29-BP DEL, NT113
EMD, 5-BP DEL, NT631
EMD, IVSAS, A-G, -3, 214-BP INS
NM_000117.2(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.2(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.2(EMD):c.547C>A (p.Pro183Thr) rs104894806
NM_000117.2(EMD):c.548C>A (p.Pro183His) rs104894805

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