ClinVar Miner

List of variants in gene ELN reported as uncertain significance for Cutis laxa, autosomal dominant

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Total variants: 22
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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

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