ClinVar Miner

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

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg) rs762345055 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser) rs1727094027 0.00001
NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
NM_173660.4(DOK7):c.[1263delC];[1263dupC]
NM_173660.5(DOK7):c.1166_1169del (p.Leu389fs) rs1728633687
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter) rs544278158
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1441dup (p.His481fs) rs1168106708
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
NM_173660.5(DOK7):c.332-1G>A rs1490214819
NM_173660.5(DOK7):c.332-1G>C
NM_173660.5(DOK7):c.332-1G>T rs1490214819
NM_173660.5(DOK7):c.332-2A>G
NM_173660.5(DOK7):c.396C>G (p.His132Gln) rs779798129
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) rs571769859
NM_173660.5(DOK7):c.439del (p.Ala147fs) rs1577153029
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_173660.5(DOK7):c.652+1dup rs1727731607
NM_173660.5(DOK7):c.773-1G>C
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.