ClinVar Miner

List of variants in gene ELN reported as uncertain significance for aortic disease

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_000501.2(ELN):c.1943G>A (p.Gly648Glu) rs140085632
NM_000501.3(ELN):c.*1062dupT rs574934142
NM_000501.3(ELN):c.*1145dupT rs886062436
NM_000501.3(ELN):c.*251C>T rs886062430
NM_000501.3(ELN):c.*458C>T rs886062431
NM_000501.3(ELN):c.*489G>T rs886062432
NM_000501.3(ELN):c.*570G>A rs565400803
NM_000501.3(ELN):c.*629T>C rs776424755
NM_000501.3(ELN):c.*663C>T rs886062433
NM_000501.3(ELN):c.*794C>T rs185988110
NM_000501.3(ELN):c.*997G>T rs886062434
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.3(ELN):c.1096+45_1096+50dupGTGTGT 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.1234G>A (p.Gly412Arg) rs375116795
NM_000501.3(ELN):c.1281C>T (p.Pro427=) rs376496267
NM_000501.3(ELN):c.1339G>A (p.Ala447Thr) rs139335797
NM_000501.3(ELN):c.163+13A>G rs782388951
NM_000501.3(ELN):c.326G>A (p.Gly109Asp) rs145519139
NM_000501.3(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.3(ELN):c.930C>T (p.Ala310=) rs147367888
NM_001278939.1(ELN):c.1138G>A (p.Ala380Thr) rs973649598
NM_001278939.1(ELN):c.1264G>C (p.Gly422Arg)
NM_001278939.1(ELN):c.133+6G>A
NM_001278939.1(ELN):c.1407C>T (p.Gly469=)
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.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.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.34G>A (p.Gly12Arg) rs149127344
NM_001278939.1(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_001278939.1(ELN):c.767C>T (p.Ala256Val)
NM_001278939.1(ELN):c.913G>A (p.Ala305Thr) rs1060503513

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