ClinVar Miner

List of variants in gene ELN reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NC_000007.14:g.74060169G>T
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg) rs34852121
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344
NM_000501.4(ELN):c.469+5G>C rs727503025
NM_000501.4(ELN):c.685+1_685+5dup rs876657806

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.