List of variants in gene DOK7 reported as 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_173660.5(DOK7):c.331+1G>T	rs1349476281	0.00001
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128
NM_173660.5(DOK7):c.1143del (p.Glu382fs)	rs606231132
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)	rs606231129
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
NM_173660.5(DOK7):c.957dup (p.Lys320fs)	rs794727884

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