List of variants in gene DOK7 studied for Congenital myasthenic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_173660.5(DOK7):c.331+1G>T	rs1349476281	0.00001
NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
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.1370_1446del (p.Glu457fs)
NM_173660.5(DOK7):c.1441dup (p.His481fs)	rs1168106708
NM_173660.5(DOK7):c.1457del (p.Pro486fs)	rs1577184455
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
NM_173660.5(DOK7):c.957dup (p.Lys320fs)	rs794727884

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