List of variants reported as likely pathogenic for Emery-Dreifuss muscular dystrophy 1, X-linked

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)	rs782764813
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)	rs1557182431
NM_000117.3(EMD):c.359C>A (p.Ser120Ter)
NM_000117.3(EMD):c.441C>A (p.Cys147Ter)	rs2522789929
NM_000117.3(EMD):c.450-1G>A	rs2522790106
NM_000117.3(EMD):c.450-2A>G	rs398123158
NM_000117.3(EMD):c.662_663insT (p.Gln222fs)	rs2522790651
NM_000117.3(EMD):c.674del (p.Leu225fs)	rs2522790689
NM_000117.3(EMD):c.77T>C (p.Val26Ala)	rs727505029

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