List of variants in gene combination CHRNE, LOC130060041 reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys)	rs757968612	0.00013
NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser)	rs964034772	0.00008
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)	rs767374241	0.00006
NM_000080.4(CHRNE):c.1103C>T (p.Pro368Leu)	rs371919434	0.00005
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)	rs772143528	0.00004
NM_000080.4(CHRNE):c.1033-9C>A	rs1055824191	0.00002
NM_000080.4(CHRNE):c.1100C>T (p.Ser367Leu)	rs753495337	0.00002
NM_000080.4(CHRNE):c.1077G>T (p.Pro359=)	rs907495464	0.00001
NM_000080.4(CHRNE):c.1078C>T (p.Pro360Ser)	rs998988224	0.00001
NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr)	rs780327519	0.00001
NM_000080.4(CHRNE):c.1049T>C (p.Leu350Pro)	rs1969864400
NM_000080.4(CHRNE):c.1055G>T (p.Arg352Leu)	rs764744220
NM_000080.4(CHRNE):c.1057C>G (p.Leu353Val)	rs1969863454
NM_000080.4(CHRNE):c.1070C>T (p.Pro357Leu)	rs1026988403
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup)	rs752226476
NM_000080.4(CHRNE):c.1106C>G (p.Pro369Arg)	rs1487474998

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.