List of variants in gene DOK7 reported as likely pathogenic for Congenital myasthenic syndrome

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)	rs758131044	0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)	rs768892432	0.00001
NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)
NM_173660.5(DOK7):c.1441dup (p.His481fs)	rs1168106708
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.513C>T (p.Gly171=)	rs775583136

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