ClinVar Miner

List of variants reported as likely pathogenic for Myasthenic syndrome, congenital, 4a, slow-channel

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
NM_000080.4(CHRNE):c.1033-1G>C rs755303686
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1220-6_1227del rs1567635954
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)
NM_000080.4(CHRNE):c.1319_1326+15del rs1208462125
NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu)
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu) rs121909512
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829

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.