ClinVar Miner

List of variants in gene ELN reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00005
NM_000501.4(ELN):c.2032+1G>A rs781859711 0.00001
ELN, 1-BP DEL, 2159C
ELN, 100-KB DEL
ELN, 25-BP DEL, NT2114
ELN, EX9-33DUP
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.(?_73480004)_(73483030_?)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
NC_000007.14:g.74048505del rs1793092853
NM_000501.2(ELN):c.(?_-60)_(*57_?)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.1097-1G>A rs727503029
NM_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs) rs1794880739
NM_000501.4(ELN):c.1111del (p.Glu371fs) rs2485967112
NM_000501.4(ELN):c.1113dup (p.Ala372fs) rs730880355
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.1155del (p.Arg386fs)
NM_000501.4(ELN):c.1161del (p.Gly388fs) rs863223521
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) rs2486021154
NM_000501.4(ELN):c.1195del (p.Val399fs) rs863223522
NM_000501.4(ELN):c.1208del (p.Gly403fs) rs727504433
NM_000501.4(ELN):c.1217dup (p.Phe407fs) rs2486022848
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter) rs200862792
NM_000501.4(ELN):c.1283dup (p.Val429fs)
NM_000501.4(ELN):c.1292del (p.Gly431fs) rs2486027825
NM_000501.4(ELN):c.131del (p.Pro44fs) rs727503023
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.1422del (p.Pro475fs)
NM_000501.4(ELN):c.1431dup (p.Gly478fs) rs2486276420
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) rs2486283813
NM_000501.4(ELN):c.1618C>G (p.Leu540Val)
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.163+1G>T
NM_000501.4(ELN):c.163+2T>A rs1584494326
NM_000501.4(ELN):c.163+2T>C rs1584494326
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter) rs2486318296
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000501.4(ELN):c.1679del (p.Pro560fs) rs2132320442
NM_000501.4(ELN):c.1697del (p.Ala566fs) rs2486321745
NM_000501.4(ELN):c.1706del (p.Pro569fs) rs2486322571
NM_000501.4(ELN):c.1716dup (p.Val573fs) rs1554683650
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1728dup (p.Val577fs) rs2132322943
NM_000501.4(ELN):c.1733del (p.Pro578fs) rs727503782
NM_000501.4(ELN):c.1737del (p.Phe580fs) rs2486324663
NM_000501.4(ELN):c.1741_1742delinsCA (p.Gly581Gln) rs2132323982
NM_000501.4(ELN):c.1744del (p.Ala582fs) rs727503783
NM_000501.4(ELN):c.1747+48G>T
NM_000501.4(ELN):c.1748del (p.Val583fs) rs2486383085
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) rs727503033
NM_000501.4(ELN):c.1817del (p.Leu606fs) rs1797063858
NM_000501.4(ELN):c.1858+5G>C rs1554686162
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.1863del (p.Gly622fs)
NM_000501.4(ELN):c.1918+1G>A rs727503035
NM_000501.4(ELN):c.1928_1952del (p.Gly643fs) rs863223524
NM_000501.4(ELN):c.192del (p.Lys64fs) rs2484908782
NM_000501.4(ELN):c.1946del (p.Gly649fs) rs1797225811
NM_000501.4(ELN):c.1957G>T (p.Gly653Ter) rs782707801
NM_000501.4(ELN):c.1973del (p.Pro658fs) rs2486562061
NM_000501.4(ELN):c.1A>G (p.Met1Val) rs2484435508
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_000501.4(ELN):c.26_33del (p.Pro9fs)
NM_000501.4(ELN):c.278del (p.Pro93fs) rs1791508570
NM_000501.4(ELN):c.279del (p.Gly94fs)
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) rs2485140568
NM_000501.4(ELN):c.377-2A>G rs1554669770
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.391C>T (p.Gln131Ter) rs1791626037
NM_000501.4(ELN):c.401_405del (p.Ala134fs)
NM_000501.4(ELN):c.414dup (p.Gly139fs) rs1791633917
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.420del (p.Val141fs)
NM_000501.4(ELN):c.435del (p.Leu146fs) rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs) rs727503022
NM_000501.4(ELN):c.448_449dup (p.Pro151fs)
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.477del (p.Phe160fs) rs863223519
NM_000501.4(ELN):c.526A>T (p.Lys176Ter) rs137854455
NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs) rs2485343633
NM_000501.4(ELN):c.582del (p.Phe195fs) rs2131603022
NM_000501.4(ELN):c.590del (p.Gly197fs) rs863223526
NM_000501.4(ELN):c.59del (p.Ile20fs) rs2484444517
NM_000501.4(ELN):c.608del (p.Pro203fs) rs727504581
NM_000501.4(ELN):c.609del (p.Leu204fs) rs2485385008
NM_000501.4(ELN):c.611del (p.Leu204fs) rs2485385183
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.634A>T (p.Lys212Ter) rs1554672587
NM_000501.4(ELN):c.643+1G>A rs1131691482
NM_000501.4(ELN):c.643+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.656_659dup (p.Tyr221fs)
NM_000501.4(ELN):c.65_69dup (p.Ser24fs) rs1787875866
NM_000501.4(ELN):c.660del (p.Tyr221fs) rs2485448490
NM_000501.4(ELN):c.662dup (p.Tyr221Ter) rs2485449620
NM_000501.4(ELN):c.673A>T (p.Lys225Ter)
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.69del (p.Ser24fs) rs2484445815
NM_000501.4(ELN):c.728_729del (p.Gly243fs) rs863223527
NM_000501.4(ELN):c.775del (p.Ala259fs) rs2485518873
NM_000501.4(ELN):c.786del (p.Ala263fs) rs2485519560
NM_000501.4(ELN):c.800-1G>A rs2131847938
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.82+2T>A
NM_000501.4(ELN):c.832G>T (p.Gly278Ter)
NM_000501.4(ELN):c.840_843dup (p.Val282fs) rs1794096639
NM_000501.4(ELN):c.848dup (p.Gly284fs) rs863223528
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.869del (p.Pro290fs) rs1794104889
NM_000501.4(ELN):c.885del (p.Ile295fs) rs1794108907
NM_000501.4(ELN):c.889+2T>C rs727504419
NM_000501.4(ELN):c.890-1G>A rs1794129841
NM_000501.4(ELN):c.890-2A>G rs727504434
NM_000501.4(ELN):c.8del (p.Gly3fs) rs2130826217
NM_000501.4(ELN):c.909_916del (p.Ala304fs) rs2131856285
NM_000501.4(ELN):c.914_930delinsGCT (p.Ala305fs) rs886044834
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_000501.4(ELN):c.944dup (p.Tyr316fs)
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter) rs2131858633
NM_000501.4(ELN):c.94del (p.Ala32fs) rs2484780987
NM_000501.4(ELN):c.956_957dup (p.Ala320fs) rs1794472287
NM_000501.4(ELN):c.96del (p.Ile33fs) rs2131151265
NM_000501.4(ELN):c.[1034_1057dup;1741_1742delinsCA]

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