List of variants in gene EMD reported as likely pathogenic for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000117.3(EMD):c.135dup (p.Arg46fs)	rs1557182301
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)
NM_000117.3(EMD):c.16del (p.Asp6fs)	rs1569552076
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.406del (p.Asp136fs)	rs2148128715
NM_000117.3(EMD):c.441C>A (p.Cys147Ter)
NM_000117.3(EMD):c.450-1G>A
NM_000117.3(EMD):c.450-2A>G	rs398123158
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	rs730880352
NM_000117.3(EMD):c.662_663insT (p.Gln222fs)
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.740_743del (p.Gln247fs)
NM_000117.3(EMD):c.77T>C (p.Val26Ala)	rs727505029
NM_000117.3(EMD):c.82+1G>A	rs1557182214

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