ClinVar Miner

List of variants reported as likely pathogenic for congenital myasthenic syndrome 11

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs) rs1475015182 0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys) rs767507908 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
GRCh37/hg19 11p11.2(chr11:47459526-47460482)
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
NM_005055.5(RAPSN):c.193-2A>C rs1595902947
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.272G>A (p.Arg91His) rs375218091
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro) rs375218091
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005055.5(RAPSN):c.691-1G>A
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala) rs374604570
NM_005055.5(RAPSN):c.911_912+1dup rs2153308410
NM_005055.5(RAPSN):c.913-1G>C
NM_005055.5(RAPSN):c.966+1_966+2delinsAG rs2153308170

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.