ClinVar Miner

List of variants in gene ELN studied for Cutis laxa, autosomal dominant

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Total variants: 68
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HGVS dbSNP
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.-38C>T rs41410045
NM_000501.3(ELN):c.-70G>C rs537200597
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+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.1232T>G (p.Val411Gly) rs200180992
NM_000501.3(ELN):c.1234G>A (p.Gly412Arg) rs375116795
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.1281C>T (p.Pro427=) rs376496267
NM_000501.3(ELN):c.1317C>T (p.Pro439=) rs201861098
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.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.1622-13C>T rs41362346
NM_000501.3(ELN):c.163+13A>G rs782388951
NM_000501.3(ELN):c.1741G>C (p.Gly581Arg) rs17855988
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.1861G>A (p.Ala621Thr) rs150404125
NM_000501.3(ELN):c.1909G>A (p.Ala637Thr) rs536177240
NM_000501.3(ELN):c.1999C>T (p.Pro667Ser) rs142316834
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.259T>C (p.Phe87Leu) rs140411170
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.427+8C>T rs55868272
NM_000501.3(ELN):c.470-10C>G rs200663056
NM_000501.3(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.3(ELN):c.861G>A (p.Gly287=) rs368610108
NM_000501.3(ELN):c.886G>A (p.Ala296Thr) rs782335529
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

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