ClinVar Miner

List of variants reported for Familial dysautonomia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767 0.00003
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003640.5(ELP1):c.3572+1G>A rs571348995 0.00001
NC_000009.11:g.(111644468_111651611)_(111696613_?)del
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter) rs906880093
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) rs781333644
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter) rs1829561209
NM_003640.5(ELP1):c.740+1G>T
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
NM_003640.5(ELP1):c.954_958+7del rs2132025021

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.