List of variants reported as likely pathogenic for Congenital myasthenic syndrome 5 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.555+1G>A	rs769276577	0.00002
NM_005677.4(COLQ):c.954+1G>A	rs757060689	0.00001
NM_005677.4(COLQ):c.1026C>A (p.Asp342Glu)
NM_005677.4(COLQ):c.106+2_106+10del
NM_005677.4(COLQ):c.107-1G>A	rs1269227357
NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)
NM_005677.4(COLQ):c.366+1G>C	rs2125123160
NM_005677.4(COLQ):c.393+1G>A	rs1085307792
NM_005677.4(COLQ):c.529-2A>G	rs755236236
NM_005677.4(COLQ):c.718-1G>T
NM_005677.4(COLQ):c.814+2T>C	rs1002244829
NM_005677.4(COLQ):c.955-2A>T	rs1172409117

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.