ClinVar Miner

List of variants in gene ELN reported as uncertain significance 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: 46
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HGVS dbSNP
NM_000501.4(ELN):c.*1062dup rs574934142
NM_000501.4(ELN):c.*1145dup rs886062436
NM_000501.4(ELN):c.*251C>T rs886062430
NM_000501.4(ELN):c.*458C>T rs886062431
NM_000501.4(ELN):c.*489G>T rs886062432
NM_000501.4(ELN):c.*570G>A rs565400803
NM_000501.4(ELN):c.*629T>C rs776424755
NM_000501.4(ELN):c.*663C>T rs886062433
NM_000501.4(ELN):c.*794C>T rs185988110
NM_000501.4(ELN):c.*997G>T rs886062434
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.1138G>A (p.Ala380Thr) rs973649598
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267
NM_000501.4(ELN):c.133+6G>A rs1216357938
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797
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.163+13A>G rs782388951
NM_000501.4(ELN):c.164C>T (p.Ala55Val)
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.1781A>T (p.Lys594Ile) rs782679448
NM_000501.4(ELN):c.18G>A (p.Ala6=)
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.202G>A (p.Gly68Arg) rs372566075
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344
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.767C>T (p.Ala256Val)
NM_000501.4(ELN):c.913G>A (p.Ala305Thr) rs1060503513
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888
NM_001278918.1(ELN):c.-70G>C rs537200597

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