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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000117.3(EMD):c.116_143del (p.Phe39fs)	rs1569552080
NM_000117.3(EMD):c.178del (p.Ser60fs)
NM_000117.3(EMD):c.251_255del (p.Leu84fs)	rs782452523
NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer)
NM_000117.3(EMD):c.512C>G (p.Ser171Ter)
NM_000117.3(EMD):c.60del (p.Asn20fs)	rs886041854

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