ClinVar Miner

List of variants in gene ELN

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Gene type:
ClinVar version:
Total variants: 253
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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_000501.2(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.2(ELN):c.1358-198G>A rs192461213
NM_000501.2(ELN):c.145G>A (p.Gly49Arg) rs144757453
NM_000501.2(ELN):c.1537G>A (p.Val513Ile) rs372788076
NM_000501.2(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.2(ELN):c.164-2A>C rs782096458
NM_000501.2(ELN):c.1716dupA (p.Val573Serfs) rs1554683650
NM_000501.2(ELN):c.1781A>C (p.Lys594Thr) rs782679448
NM_000501.2(ELN):c.1849G>A (p.Gly617Ser) rs781904032
NM_000501.2(ELN):c.1859-1G>A rs863223516
NM_000501.2(ELN):c.1943G>A (p.Gly648Glu) rs140085632
NM_000501.2(ELN):c.1994-2A>C rs1440841207
NM_000501.2(ELN):c.2031C>G (p.Tyr677Ter) rs1554688700
NM_000501.2(ELN):c.2032G>A (p.Gly678Ser) rs375579231
NM_000501.2(ELN):c.2058delA (p.Gly688Valfs) rs886039351
NM_000501.2(ELN):c.2132-7C>A rs782755390
NM_000501.2(ELN):c.328G>T (p.Ala110Ser) rs137953195
NM_000501.2(ELN):c.43_44insC (p.Leu15Profs) rs727503022
NM_000501.2(ELN):c.460G>A (p.Val154Met) rs145669576
NM_000501.2(ELN):c.473C>T (p.Ala158Val) rs201137255
NM_000501.2(ELN):c.477delG (p.Phe160Serfs) rs863223519
NM_000501.2(ELN):c.571+7C>T rs863223523
NM_000501.2(ELN):c.594G>A (p.Pro198=) rs140337204
NM_000501.2(ELN):c.618T>A (p.Tyr206Ter) rs863223513
NM_000501.2(ELN):c.631C>T (p.Pro211Ser) rs1064793880
NM_000501.2(ELN):c.643+1G>A rs1131691482
NM_000501.2(ELN):c.728_729delGT (p.Gly243Valfs) rs863223527
NM_000501.2(ELN):c.800-3C>G rs397516433
NM_000501.2(ELN):c.889+1G>A rs782238674
NM_000501.3(ELN):c.*1062dupT rs574934142
NM_000501.3(ELN):c.*1145dupT rs886062436
NM_000501.3(ELN):c.*1194A>G rs10233395
NM_000501.3(ELN):c.*1195C>T rs115872030
NM_000501.3(ELN):c.*172G>A rs56120764
NM_000501.3(ELN):c.*238C>T rs546341976
NM_000501.3(ELN):c.*251C>T rs886062430
NM_000501.3(ELN):c.*383T>G rs184490734
NM_000501.3(ELN):c.*429C>T rs62476387
NM_000501.3(ELN):c.*458C>T rs886062431
NM_000501.3(ELN):c.*489G>T rs886062432
NM_000501.3(ELN):c.*501_*502insA rs34208922
NM_000501.3(ELN):c.*548G>A rs117454480
NM_000501.3(ELN):c.*562A>C rs539096901
NM_000501.3(ELN):c.*570G>A rs565400803
NM_000501.3(ELN):c.*629T>C rs776424755
NM_000501.3(ELN):c.*636G>A rs533779578
NM_000501.3(ELN):c.*659G>C rs8326
NM_000501.3(ELN):c.*663C>T rs886062433
NM_000501.3(ELN):c.*794C>T rs185988110
NM_000501.3(ELN):c.*95C>T rs181078432
NM_000501.3(ELN):c.*997G>T rs886062434
NM_000501.3(ELN):c.-37G>C rs782267385
NM_000501.3(ELN):c.-38C>T rs41410045
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.3(ELN):c.1040del (p.Pro347Glnfs)
NM_000501.3(ELN):c.1096+45_1096+50delGTGTGT rs10579871
NM_000501.3(ELN):c.1096+45_1096+50dupGTGTGT rs10579871
NM_000501.3(ELN):c.1096+47_1096+50del rs10579871
NM_000501.3(ELN):c.1096+47_1096+50dupGTGT rs10579871
NM_000501.3(ELN):c.1096+49_1096+50delGT rs10579871
NM_000501.3(ELN):c.1096+49_1096+50dupGT rs10579871
NM_000501.3(ELN):c.1097-1G>A rs727503029
NM_000501.3(ELN):c.1101delT (p.Val368Cysfs) rs863223520
NM_000501.3(ELN):c.1113_1114insA (p.Ala372Serfs) rs730880355
NM_000501.3(ELN):c.1149C>T (p.Tyr383=) rs199621188
NM_000501.3(ELN):c.1150+20C>G rs1554678579
NM_000501.3(ELN):c.1153del (p.Ala385Profs) rs727503031
NM_000501.3(ELN):c.1161delC (p.Gly388Glufs) rs863223521
NM_000501.3(ELN):c.1178_1201del24 (p.Gly393_Gly400del) rs781838239
NM_000501.3(ELN):c.1195delG (p.Val399Leufs) rs863223522
NM_000501.3(ELN):c.1208del (p.Gly403Alafs) rs727504433
NM_000501.3(ELN):c.1232T>G (p.Val411Gly) rs200180992
NM_000501.3(ELN):c.1233C>T (p.Val411=) rs202052596
NM_000501.3(ELN):c.1234G>A (p.Gly412Arg) rs375116795
NM_000501.3(ELN):c.1263_1264delTGinsCA (p.Gly422Ser) rs1064796150
NM_000501.3(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.3(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.3(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.3(ELN):c.1271G>A (p.Gly424Glu) rs782725817
NM_000501.3(ELN):c.1279C>G (p.Pro427Ala) rs144341345
NM_000501.3(ELN):c.1281C>T (p.Pro427=) rs376496267
NM_000501.3(ELN):c.1287C>T (p.Val429=) rs200666061
NM_000501.3(ELN):c.1315+17C>T rs2856728
NM_000501.3(ELN):c.1316-12G>A rs782357759
NM_000501.3(ELN):c.1317C>T (p.Pro439=) rs201861098
NM_000501.3(ELN):c.131del (p.Pro44Glnfs) rs727503023
NM_000501.3(ELN):c.133+16C>A rs144223231
NM_000501.3(ELN):c.133+16C>T rs144223231
NM_000501.3(ELN):c.133+5C>T rs375144839
NM_000501.3(ELN):c.1338C>T (p.Ala446=) rs146576615
NM_000501.3(ELN):c.1339G>A (p.Ala447Thr) rs139335797
NM_000501.3(ELN):c.134-14C>T rs782028490
NM_000501.3(ELN):c.134-19T>C rs535249280
NM_000501.3(ELN):c.134-6C>A rs368904789
NM_000501.3(ELN):c.1357+1G>T rs1554680190
NM_000501.3(ELN):c.1357+9C>A rs372800803
NM_000501.3(ELN):c.1358-152C>A rs1337377263
NM_000501.3(ELN):c.1358-336C>T rs74645021
NM_000501.3(ELN):c.1414+11dupC rs782491657
NM_000501.3(ELN):c.1414+19C>T rs201440090
NM_000501.3(ELN):c.1414+20G>A rs200995478
NM_000501.3(ELN):c.1415-9A>G rs727503032
NM_000501.3(ELN):c.1470T>C (p.Gly490=) rs576324025
NM_000501.3(ELN):c.1507G>A (p.Val503Met) rs41523046
NM_000501.3(ELN):c.1566T>A (p.Gly522=) rs61734584
NM_000501.3(ELN):c.1590C>T (p.Ser530=) rs782526296
NM_000501.3(ELN):c.1591_1592delGCinsTT (p.Ala531Phe) rs863223529
NM_000501.3(ELN):c.1622-13C>T rs41362346
NM_000501.3(ELN):c.163+13A>G rs782388951
NM_000501.3(ELN):c.171delG (p.Pro58Leufs) rs1554666513
NM_000501.3(ELN):c.1733delC (p.Pro578Leufs) rs727503782
NM_000501.3(ELN):c.1734T>C (p.Pro578=) rs561258201
NM_000501.3(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.3(ELN):c.1744delG (p.Ala582Glnfs) rs727503783
NM_000501.3(ELN):c.1747+92A>C rs782216165
NM_000501.3(ELN):c.1785T>A (p.Tyr595Ter) rs727503033
NM_000501.3(ELN):c.1821G>C (p.Gly607=) rs144835575
NM_000501.3(ELN):c.1825C>T (p.Leu609Phe) rs200133966
NM_000501.3(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000501.3(ELN):c.1858+20G>A rs200965648
NM_000501.3(ELN):c.1858+5G>C
NM_000501.3(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.3(ELN):c.1861G>A (p.Ala621Thr) rs150404125
NM_000501.3(ELN):c.1872C>T (p.Ala624=) rs781807182
NM_000501.3(ELN):c.1909G>A (p.Ala637Thr) rs536177240
NM_000501.3(ELN):c.1914G>A (p.Gln638=) rs782650847
NM_000501.3(ELN):c.1918+1G>A rs727503035
NM_000501.3(ELN):c.1928_1952del (p.Gly643Glufs) rs863223524
NM_000501.3(ELN):c.1946_1954dup (p.Gly651_Val652insGlyLeuGly) rs1554686832
NM_000501.3(ELN):c.1951G>A (p.Gly651Arg) rs34852121
NM_000501.3(ELN):c.1956C>T (p.Val652=) rs1469217967
NM_000501.3(ELN):c.196+18G>A rs374473857
NM_000501.3(ELN):c.1994-13C>T rs532271061
NM_000501.3(ELN):c.1999C>T (p.Pro667Ser) rs142316834
NM_000501.3(ELN):c.2033-16A>G rs45618836
NM_000501.3(ELN):c.2067C>T (p.Ala689=) rs782657493
NM_000501.3(ELN):c.2077C>T (p.Pro693Ser) rs369804770
NM_000501.3(ELN):c.2086+5G>C rs111866046
NM_000501.3(ELN):c.2109C>T (p.Phe703=) rs149755814
NM_000501.3(ELN):c.212C>T (p.Ala71Val) rs41350445
NM_000501.3(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000501.3(ELN):c.2160delC (p.Arg721Glyfs) rs794729201
NM_000501.3(ELN):c.232+3G>A rs377172364
NM_000501.3(ELN):c.259T>C (p.Phe87Leu) rs140411170
NM_000501.3(ELN):c.326-20C>T rs200397639
NM_000501.3(ELN):c.326G>A (p.Gly109Asp) rs145519139
NM_000501.3(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.3(ELN):c.366A>G (p.Gly122=) rs61734587
NM_000501.3(ELN):c.376+5G>A rs782770862
NM_000501.3(ELN):c.425C>A (p.Pro142Gln) rs1013508230
NM_000501.3(ELN):c.427+8C>T rs55868272
NM_000501.3(ELN):c.435del (p.Leu146Cysfs) rs727503024
NM_000501.3(ELN):c.450C>A (p.Tyr150Ter) rs137854454
NM_000501.3(ELN):c.450C>G (p.Tyr150Ter) rs137854454
NM_000501.3(ELN):c.469+5G>C rs727503025
NM_000501.3(ELN):c.470-10C>G rs200663056
NM_000501.3(ELN):c.476G>A (p.Arg159Gln) rs369045063
NM_000501.3(ELN):c.526A>T (p.Lys176Ter) rs137854455
NM_000501.3(ELN):c.590delG (p.Gly197Aspfs) rs863223526
NM_000501.3(ELN):c.608del (p.Pro203Hisfs) rs727504581
NM_000501.3(ELN):c.634A>T (p.Lys212Ter) rs1554672587
NM_000501.3(ELN):c.644-8C>T rs201859539
NM_000501.3(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.3(ELN):c.685+1_685+5dup rs876657806
NM_000501.3(ELN):c.6G>A (p.Ala2=) rs782540463
NM_000501.3(ELN):c.741del (p.Thr248Glnfs) rs727503026
NM_000501.3(ELN):c.759_760insGCA (p.Ala260_Lys261insAla) rs782185396
NM_000501.3(ELN):c.774G>A (p.Ala258=) rs781921056
NM_000501.3(ELN):c.848dupC (p.Gly284Trpfs) rs863223528
NM_000501.3(ELN):c.861G>A (p.Gly287=) rs368610108
NM_000501.3(ELN):c.862dup (p.Ala288Glyfs) rs727503028
NM_000501.3(ELN):c.886G>A (p.Ala296Thr) rs782335529
NM_000501.3(ELN):c.889+2T>C rs727504419
NM_000501.3(ELN):c.890-2A>G rs727504434
NM_000501.3(ELN):c.914_930del17insGCT (p.Ala305Glyfs) rs886044834
NM_000501.3(ELN):c.921A>G (p.Ala307=) rs6979788
NM_000501.3(ELN):c.930C>T (p.Ala310=) rs147367888
NM_000501.3(ELN):c.931G>A (p.Ala311Thr) rs41376344
NM_000501.3(ELN):c.949+14G>A rs200929398
NM_000501.4(ELN):c.1315+1G>A
NM_000501.4(ELN):c.686-5T>G
NM_001278939.1(ELN):c.1001_1013del (p.Val334Glufs)
NM_001278939.1(ELN):c.1089G>A (p.Ala363=) rs782204123
NM_001278939.1(ELN):c.1138G>A (p.Ala380Thr) rs973649598
NM_001278939.1(ELN):c.1150+1G>A rs727503030
NM_001278939.1(ELN):c.1170A>G (p.Gly390=) rs1060504936
NM_001278939.1(ELN):c.1227del (p.Gly410Glufs)
NM_001278939.1(ELN):c.1264G>C (p.Gly422Arg)
NM_001278939.1(ELN):c.133+6G>A
NM_001278939.1(ELN):c.134-4dup rs878854451
NM_001278939.1(ELN):c.1357G>A (p.Gly453Ser)
NM_001278939.1(ELN):c.1363G>A (p.Ala455Thr) rs370619098
NM_001278939.1(ELN):c.1407C>T (p.Gly469=)
NM_001278939.1(ELN):c.1417G>A (p.Gly473Ser)
NM_001278939.1(ELN):c.1424C>T (p.Pro475Leu) rs185060213
NM_001278939.1(ELN):c.1431G>A (p.Thr477=) rs782737850
NM_001278939.1(ELN):c.1450G>A (p.Gly484Arg)
NM_001278939.1(ELN):c.1475A>G (p.Lys492Arg) rs34945509
NM_001278939.1(ELN):c.1518C>T (p.Val506=) rs782141278
NM_001278939.1(ELN):c.159A>T (p.Gly53=) rs200810494
NM_001278939.1(ELN):c.1709-6C>T
NM_001278939.1(ELN):c.1758C>T (p.Val586=) rs563533415
NM_001278939.1(ELN):c.1762G>A (p.Val588Ile) rs560081099
NM_001278939.1(ELN):c.1789G>A (p.Val597Ile) rs1554683612
NM_001278939.1(ELN):c.18G>A (p.Ala6=)
NM_001278939.1(ELN):c.1916C>A (p.Thr639Asn) rs186744935
NM_001278939.1(ELN):c.1953C>T (p.Ala651=) rs117816525
NM_001278939.1(ELN):c.1967A>T (p.Lys656Ile) rs782679448
NM_001278939.1(ELN):c.202G>A (p.Gly68Arg) rs372566075
NM_001278939.1(ELN):c.2132G>C (p.Gly711Ala) rs200041224
NM_001278939.1(ELN):c.2142_2156del (p.Gly715_Val719del)
NM_001278939.1(ELN):c.2179+4A>G rs781872334
NM_001278939.1(ELN):c.2272+8del rs782078342
NM_001278939.1(ELN):c.2318-6G>A rs781831349
NM_001278939.1(ELN):c.249C>T (p.Pro83=) rs565001805
NM_001278939.1(ELN):c.295_296del (p.Ala99Cysfs) rs1554669297
NM_001278939.1(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_001278939.1(ELN):c.34G>A (p.Gly12Arg) rs149127344
NM_001278939.1(ELN):c.383delT (p.Val128Glyfs) rs1554669800
NM_001278939.1(ELN):c.417delG (p.Val141Cysfs) rs878854452
NM_001278939.1(ELN):c.42C>T (p.Leu14=) rs1554660052
NM_001278939.1(ELN):c.470-37_470del
NM_001278939.1(ELN):c.493G>T (p.Val165Leu) rs61734581
NM_001278939.1(ELN):c.528G>A (p.Lys176=) rs782412839
NM_001278939.1(ELN):c.643+1_643+2delinsAG rs1554672602
NM_001278939.1(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_001278939.1(ELN):c.690T>A (p.Tyr230Ter)
NM_001278939.1(ELN):c.758del (p.Gln253Argfs)
NM_001278939.1(ELN):c.767C>T (p.Ala256Val)
NM_001278939.1(ELN):c.800-2A>G rs727503027
NM_001278939.1(ELN):c.892G>A (p.Val298Ile) rs41526244
NM_001278939.1(ELN):c.898A>T (p.Thr300Ser) rs766735416
NM_001278939.1(ELN):c.913G>A (p.Ala305Thr) rs1060503513
NM_001278939.1(ELN):c.924A>T (p.Ala308=) rs539451717
NM_001278939.1(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_001278939.1(ELN):c.993G>A (p.Pro331=) rs371757750

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