List of variants reported as uncertain significance for congenital myasthenic syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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_000751.3(CHRND):c.727C>T (p.Arg243Cys)	rs201733876	0.00042
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys)	rs144063384	0.00006
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)	rs145955590	0.00004
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr)	rs573680102	0.00001
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)	rs2151097307
NM_001368882.1(COL13A1):c.549+5G>A	rs2134524471
NM_001368882.1(COL13A1):c.576+5G>A	rs2060807560
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala)	rs1057517665
NM_005677.4(COLQ):c.1319G>A (p.Cys440Tyr)	rs2125077498
NM_020549.5(CHAT):c.1145A>G (p.Glu382Gly)	rs2132799619
NM_020549.5(CHAT):c.1964T>C (p.Leu655Pro)	rs2132852977
NM_173660.5(DOK7):c.533-2A>G

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.