ClinVar Miner

List of variants in gene ELN reported as pathogenic

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Total variants: 63
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HGVS dbSNP
ELN, 1-BP DEL, 1821C
ELN, 1-BP DEL, 2012G
ELN, 1-BP DEL, 2039C
ELN, 1-BP DEL, 2159C
ELN, 1-BP DEL, 748A
ELN, 1-BP INS, FS615TER
ELN, 100-KB DEL
ELN, 1621C-T
ELN, 25-BP DEL, NT2114
ELN, 30-KB DEL
ELN, ARG610GLN AND 24-BP DUP, NT1034
ELN, EX9-33DUP
ELN, IVS15AS, A-G, -2
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
NM_000501.4(ELN):c.1040del (p.Pro347fs) rs1563826213
NM_000501.4(ELN):c.1097-1G>A rs727503029
NM_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1113dup (p.Ala372fs) rs730880355
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1161del (p.Gly388fs) rs863223521
NM_000501.4(ELN):c.1195del (p.Val399fs) rs863223522
NM_000501.4(ELN):c.1208del (p.Gly403fs) rs727504433
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.131del (p.Pro44fs) rs727503023
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1482del (p.Val495fs)
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.163+2T>C
NM_000501.4(ELN):c.1716dup (p.Val573fs) rs1554683650
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1744del (p.Ala582fs) rs727503783
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) rs727503033
NM_000501.4(ELN):c.1858+5G>C rs1554686162
NM_000501.4(ELN):c.1918+1G>A rs727503035
NM_000501.4(ELN):c.1928_1952del (p.Gly643fs) rs863223524
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
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.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.435del (p.Leu146fs) rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs) rs727503022
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.590del (p.Gly197fs) rs863223526
NM_000501.4(ELN):c.608del (p.Pro203fs) rs727504581
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+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.848dup (p.Gly284fs) rs863223528
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.889+2T>C rs727504419
NM_000501.4(ELN):c.890-2A>G rs727504434
NM_000501.4(ELN):c.914_930delinsGCT (p.Ala305fs) rs886044834
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454

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