ClinVar Miner

List of variants in gene ELN reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73442518)_(73449764_?)del
NC_000007.13:g.(?_73442518)_(73483030_?)del
NC_000007.13:g.(?_73461985)_(73483030_?)del
NC_000007.13:g.(?_73471702)_(73483040_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000007.14:g.(?_74028168)_(74028289_?)del
NC_000007.14:g.(?_74028178)_(74068710_?)del
NC_000007.14:g.(?_74068637)_(74068720_?)del
NM_000501.4(ELN):c.1040del (p.Pro347fs) rs1563826213
NM_000501.4(ELN):c.1075_1082dup (p.Ala362fs) rs2131925210
NM_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1111del (p.Glu371fs)
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.1168G>T (p.Gly390Ter) rs372889752
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter) rs1795205877
NM_000501.4(ELN):c.1191_1199del (p.Tyr397_Gly400delinsTer) rs2132059492
NM_000501.4(ELN):c.1191del (p.Thr396_Tyr397insTer)
NM_000501.4(ELN):c.1217dup (p.Phe407fs)
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter) rs200862792
NM_000501.4(ELN):c.1292del (p.Gly431fs)
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1351A>T (p.Lys451Ter) rs2132079396
NM_000501.4(ELN):c.1393dup (p.Ala465fs) rs2132135741
NM_000501.4(ELN):c.1452_1453insA (p.Val485fs) rs2132288547
NM_000501.4(ELN):c.1482del (p.Val495fs) rs1583959262
NM_000501.4(ELN):c.1539del (p.Gly514fs)
NM_000501.4(ELN):c.163+2T>A
NM_000501.4(ELN):c.163+2T>C rs1584494326
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000501.4(ELN):c.1679del (p.Pro560fs) rs2132320442
NM_000501.4(ELN):c.1706del (p.Pro569fs)
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1817del (p.Leu606fs) rs1797063858
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.192del (p.Lys64fs)
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.1A>G (p.Met1Val)
NM_000501.4(ELN):c.278del (p.Pro93fs) rs1791508570
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.348del (p.Gly117fs) rs2131453910
NM_000501.4(ELN):c.364G>T (p.Gly122Ter)
NM_000501.4(ELN):c.377-2A>G
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.391C>T (p.Gln131Ter) rs1791626037
NM_000501.4(ELN):c.414dup (p.Gly139fs) rs1791633917
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs)
NM_000501.4(ELN):c.609del (p.Leu204fs)
NM_000501.4(ELN):c.611del (p.Leu204fs)
NM_000501.4(ELN):c.643+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.65_69dup (p.Ser24fs) rs1787875866
NM_000501.4(ELN):c.660del (p.Tyr221fs)
NM_000501.4(ELN):c.662dup (p.Tyr221Ter)
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.69del (p.Ser24fs)
NM_000501.4(ELN):c.775del (p.Ala259fs)
NM_000501.4(ELN):c.786del (p.Ala263fs)
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.82+1G>A rs2130830261
NM_000501.4(ELN):c.82+1G>C rs2130830261
NM_000501.4(ELN):c.840_843dup (p.Val282fs) rs1794096639
NM_000501.4(ELN):c.869del (p.Pro290fs) rs1794104889
NM_000501.4(ELN):c.885del (p.Ile295fs) rs1794108907
NM_000501.4(ELN):c.8del (p.Gly3fs) rs2130826217
NM_000501.4(ELN):c.909_916del (p.Ala304fs) rs2131856285
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter) rs2131858633
NM_000501.4(ELN):c.94del (p.Ala32fs)
NM_000501.4(ELN):c.96del (p.Ile33fs) rs2131151265
NM_001278939.1(ELN):c.748del rs1793092853

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.