ClinVar Miner

List of variants in gene ELN studied for congenital anomaly of the great arteries

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP
ELN, 1-BP DEL, 1821C
ELN, 1-BP INS, FS615TER
ELN, 100-KB DEL
ELN, 30-KB DEL
ELN, ARG610GLN AND 24-BP DUP, NT1034
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_000501.3(ELN):c.1153del (p.Ala385Profs) rs727503031
NM_000501.4(ELN):c.*1062dup rs574934142
NM_000501.4(ELN):c.*1145dup rs886062436
NM_000501.4(ELN):c.*1194A>G rs10233395
NM_000501.4(ELN):c.*1195C>T rs115872030
NM_000501.4(ELN):c.*172G>A rs56120764
NM_000501.4(ELN):c.*238C>T rs546341976
NM_000501.4(ELN):c.*251C>T rs886062430
NM_000501.4(ELN):c.*383T>G rs184490734
NM_000501.4(ELN):c.*429C>T rs62476387
NM_000501.4(ELN):c.*458C>T rs886062431
NM_000501.4(ELN):c.*489G>T rs886062432
NM_000501.4(ELN):c.*501_*502insA rs34208922
NM_000501.4(ELN):c.*548G>A rs117454480
NM_000501.4(ELN):c.*562A>C rs539096901
NM_000501.4(ELN):c.*570G>A rs565400803
NM_000501.4(ELN):c.*629T>C rs776424755
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.*663C>T rs886062433
NM_000501.4(ELN):c.*794C>T rs185988110
NM_000501.4(ELN):c.*95C>T rs181078432
NM_000501.4(ELN):c.*997G>T rs886062434
NM_000501.4(ELN):c.1040del (p.Pro347fs) rs1563826213
NM_000501.4(ELN):c.1089G>A (p.Ala363=) rs782204123
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1097-1G>A rs727503029
NM_000501.4(ELN):c.1113dup (p.Ala372fs) rs730880355
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1170A>G (p.Gly390=) rs1060504936
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1208del (p.Gly403fs) rs727504433
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu) rs782725817
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267
NM_000501.4(ELN):c.1317C>T (p.Pro439=) rs201861098
NM_000501.4(ELN):c.131del (p.Pro44fs) rs727503023
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.133+6G>A rs1216357938
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797
NM_000501.4(ELN):c.134-4dup rs878854451
NM_000501.4(ELN):c.1358-185G>A rs782737850
NM_000501.4(ELN):c.1358-192C>T rs185060213
NM_000501.4(ELN):c.1358-199G>A
NM_000501.4(ELN):c.1358-209C>T
NM_000501.4(ELN):c.1358-234G>C
NM_000501.4(ELN):c.1358-253G>A rs370619098
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509
NM_000501.4(ELN):c.1431C>T (p.Val477=) rs782141278
NM_000501.4(ELN):c.1470T>C (p.Gly490=) rs576324025
NM_000501.4(ELN):c.1482del (p.Val495fs)
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584
NM_000501.4(ELN):c.159A>T (p.Gly53=) rs200810494
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1622-13C>T rs41362346
NM_000501.4(ELN):c.163+13A>G rs782388951
NM_000501.4(ELN):c.163+2T>C
NM_000501.4(ELN):c.164C>T (p.Ala55Val)
NM_000501.4(ELN):c.1671C>T (p.Val557=) rs563533415
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
NM_000501.4(ELN):c.1702G>A (p.Val568Ile) rs1554683612
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1733del (p.Pro578fs) rs727503782
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1744del (p.Ala582fs) rs727503783
NM_000501.4(ELN):c.1747+82C>A rs186744935
NM_000501.4(ELN):c.1767C>T (p.Ala589=) rs117816525
NM_000501.4(ELN):c.1781A>T (p.Lys594Ile) rs782679448
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) rs727503033
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe) rs200133966
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000501.4(ELN):c.1858+5G>C rs1554686162
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125
NM_000501.4(ELN):c.18G>A (p.Ala6=)
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240
NM_000501.4(ELN):c.1918+1G>A rs727503035
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala) rs200041224
NM_000501.4(ELN):c.1956_1970del (p.648_652GGLGV[1]) rs782015142
NM_000501.4(ELN):c.1993+4A>G rs781872334
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770
NM_000501.4(ELN):c.2086+5G>C rs111866046
NM_000501.4(ELN):c.2086+8del rs782078342
NM_000501.4(ELN):c.2109C>T (p.Phe703=) rs149755814
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445
NM_000501.4(ELN):c.2132-6G>A rs781831349
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170
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.326G>A (p.Gly109Asp) rs145519139
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.427+8C>T rs55868272
NM_000501.4(ELN):c.42C>T (p.Leu14=) rs1554660052
NM_000501.4(ELN):c.435del (p.Leu146fs) rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs) rs727503022
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000501.4(ELN):c.470-37_470del rs1563793627
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581
NM_000501.4(ELN):c.526A>T (p.Lys176Ter) rs137854455
NM_000501.4(ELN):c.528G>A (p.Lys176=) rs782412839
NM_000501.4(ELN):c.608del (p.Pro203fs) rs727504581
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.647G>T (p.Gly216Val) rs145612009
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.4(ELN):c.683A>G (p.Tyr228Cys)
NM_000501.4(ELN):c.686-1G>A
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.741del (p.Thr248fs) rs727503026
NM_000501.4(ELN):c.767C>T (p.Ala256Val)
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529
NM_000501.4(ELN):c.889+2T>C rs727504419
NM_000501.4(ELN):c.890-2A>G rs727504434
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244
NM_000501.4(ELN):c.913G>A (p.Ala305Thr) rs1060503513
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788
NM_000501.4(ELN):c.924A>T (p.Ala308=) rs539451717
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_000501.4(ELN):c.993G>A (p.Pro331=) rs371757750
NM_001278918.1(ELN):c.-38C>T rs41410045
NM_001278918.1(ELN):c.-70G>C rs537200597

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