ClinVar Miner

List of variants in gene ELN reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244 0.00347
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_000501.4(ELN):c.1358-253G>A rs370619098 0.00136
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046 0.00057
NM_000501.4(ELN):c.2109C>T (p.Phe703=) rs149755814 0.00032
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888 0.00025
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108 0.00024
NM_000501.4(ELN):c.1747+26C>T rs371491330 0.00017
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000501.4(ELN):c.1358-198G>A rs192461213 0.00008
NM_000501.4(ELN):c.1590C>T (p.Ser530=) rs782526296 0.00006
NM_000501.4(ELN):c.2060G>A (p.Gly687Glu) rs139547471 0.00006
NM_000501.4(ELN):c.213G>A (p.Ala71=) rs202194806 0.00005
NM_000501.4(ELN):c.1358-185G>A rs782737850 0.00004
NM_000501.4(ELN):c.853G>A (p.Val285Met) rs199709542 0.00004
NM_000501.4(ELN):c.1202C>T (p.Ala401Val) rs782493042 0.00003
NM_000501.4(ELN):c.84G>A (p.Gly28=) rs782193520 0.00001
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1787-4G>A
NM_000501.4(ELN):c.1839C>G (p.Gly613=)
NM_000501.4(ELN):c.1863C>T (p.Ala621=)
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.582C>T (p.Pro194=)

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.