ClinVar Miner

List of variants reported as pathogenic for congenital myasthenic syndrome 1A by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) rs137852799 0.00001
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile) rs137852804 0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) rs374391312 0.00001
NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp) rs137852808
NM_000079.4(CHRNA1):c.235-353G>A rs2105350984
NM_000079.4(CHRNA1):c.441del (p.Cys148fs)
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu) rs137852807
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys) rs137852798
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) rs137852805
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile) rs137852800
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu) rs137852806
NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile) rs137852802

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.