ClinVar Miner

List of variants in gene ELN studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
Download table as spreadsheet
HGVS dbSNP
NM_000501.4(ELN):c.1001_1013del (p.Val334fs)
NM_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1150+188C>T
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1151-8C>T
NM_000501.4(ELN):c.1161del (p.Gly388fs) rs863223521
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1195del (p.Val399fs) rs863223522
NM_000501.4(ELN):c.1315+1G>A
NM_000501.4(ELN):c.1322C>T (p.Ala441Val)
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1358-198G>A rs192461213
NM_000501.4(ELN):c.1358-199G>A
NM_000501.4(ELN):c.1358-268A>G
NM_000501.4(ELN):c.1363G>A (p.Gly455Arg)
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509
NM_000501.4(ELN):c.1414+180A>G
NM_000501.4(ELN):c.145G>A (p.Gly49Arg) rs144757453
NM_000501.4(ELN):c.1537G>A (p.Val513Ile) rs372788076
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1622-14C>T
NM_000501.4(ELN):c.1622-6C>T
NM_000501.4(ELN):c.164-2A>C rs782096458
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
NM_000501.4(ELN):c.1716dup (p.Val573fs) rs1554683650
NM_000501.4(ELN):c.1747+109A>G
NM_000501.4(ELN):c.1781A>C (p.Lys594Thr) rs782679448
NM_000501.4(ELN):c.1786+306G>A
NM_000501.4(ELN):c.1818C>T (p.Leu606=)
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser) rs781904032
NM_000501.4(ELN):c.1859-1G>A rs863223516
NM_000501.4(ELN):c.1928_1952del (p.Gly643fs) rs863223524
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632
NM_000501.4(ELN):c.1946_1954dup (p.646_648GLG[3]) rs1554686832
NM_000501.4(ELN):c.196+194G>A
NM_000501.4(ELN):c.197-162G>A
NM_000501.4(ELN):c.197-270T>C
NM_000501.4(ELN):c.1994-2A>C rs1440841207
NM_000501.4(ELN):c.2031C>G (p.Tyr677Ter) rs1554688700
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser) rs375579231
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770
NM_000501.4(ELN):c.2087-257G>A
NM_000501.4(ELN):c.2132-286A>G
NM_000501.4(ELN):c.2132-7C>A rs782755390
NM_000501.4(ELN):c.233-296C>G
NM_000501.4(ELN):c.233-94G>A
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.326-59G>A
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.328G>T (p.Ala110Ser) rs137953195
NM_000501.4(ELN):c.376+17C>T
NM_000501.4(ELN):c.425C>A (p.Pro142Gln) rs1013508230
NM_000501.4(ELN):c.427+203G>A
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255
NM_000501.4(ELN):c.476G>A (p.Arg159Gln) rs369045063
NM_000501.4(ELN):c.477del (p.Phe160fs) rs863223519
NM_000501.4(ELN):c.571+7C>T rs863223523
NM_000501.4(ELN):c.590del (p.Gly197fs) rs863223526
NM_000501.4(ELN):c.594G>A (p.Pro198=) rs140337204
NM_000501.4(ELN):c.618T>A (p.Tyr206Ter) rs863223513
NM_000501.4(ELN):c.631C>T (p.Pro211Ser) rs1064793880
NM_000501.4(ELN):c.643+1G>A rs1131691482
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.4(ELN):c.686-17G>A
NM_000501.4(ELN):c.686-5T>G
NM_000501.4(ELN):c.728_729del (p.Gly243fs) rs863223527
NM_000501.4(ELN):c.758del (p.Gln253fs)
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.82+169C>A
NM_000501.4(ELN):c.848dup (p.Gly284fs) rs863223528
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.889+1G>A rs782238674
NM_000501.4(ELN):c.914_930delinsGCT (p.Ala305fs) rs886044834
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344

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.