ClinVar Miner

List of variants in gene ELN reported as uncertain significance for cutis laxa, autosomal dominant 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.*238C>T rs546341976 0.00038
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.1884C>T (p.Ala628=) rs372315353 0.00031
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240 0.00026
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_000501.4(ELN):c.*95C>T rs181078432 0.00019
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000501.4(ELN):c.*489G>T rs886062432 0.00014
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797 0.00013
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_000501.4(ELN):c.*570G>A rs565400803 0.00010
NM_000501.4(ELN):c.*532C>T rs939778506 0.00009
NM_000501.4(ELN):c.*591C>T rs782460313 0.00009
NM_000501.4(ELN):c.*644G>A rs759507028 0.00008
NM_000501.4(ELN):c.1537G>A (p.Val513Ile) rs372788076 0.00007
NM_000501.4(ELN):c.403G>A (p.Gly135Arg) rs373650953 0.00007
NM_000501.4(ELN):c.*629T>C rs776424755 0.00006
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser) rs375579231 0.00006
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726 0.00006
NM_000501.4(ELN):c.*664G>A rs952638605 0.00004
NM_000501.4(ELN):c.92G>A (p.Gly31Glu) rs782625771 0.00004
NM_000501.4(ELN):c.*663C>T rs886062433 0.00003
NM_000501.4(ELN):c.*794C>T rs185988110 0.00003
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_000501.4(ELN):c.*251C>T rs886062430 0.00002
NM_000501.4(ELN):c.*631C>T rs1168466814 0.00002
NM_000501.4(ELN):c.*997G>T rs886062434 0.00002
NM_000501.4(ELN):c.1097-8C>G rs781785100 0.00002
NM_000501.4(ELN):c.133+6G>A rs1216357938 0.00002
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000501.4(ELN):c.1470T>C (p.Gly490=) rs576324025 0.00001
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser) rs374253638 0.00001
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.*102C>T rs1464325009
NM_000501.4(ELN):c.*171C>T rs781941957
NM_000501.4(ELN):c.*264C>A rs1309771565
NM_000501.4(ELN):c.*358C>T rs1489252176
NM_000501.4(ELN):c.*458C>T rs886062431
NM_000501.4(ELN):c.*578T>C rs1798608245
NM_000501.4(ELN):c.1232T>C (p.Val411Ala)
NM_000501.4(ELN):c.1325A>T (p.Gln442Leu)
NM_000501.4(ELN):c.1453_1488del (p.479VAPGVG[1]) rs782202364
NM_000501.4(ELN):c.1484T>G (p.Val495Gly)
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_000501.4(ELN):c.1941C>A (p.Leu647=) rs782117709
NM_000501.4(ELN):c.359G>T (p.Gly120Val) rs1554669689
NM_000501.4(ELN):c.376+2T>C
NM_000501.4(ELN):c.416G>A (p.Gly139Glu)
NM_000501.4(ELN):c.483C>A (p.Pro161=) rs150690195
NM_000501.4(ELN):c.590G>A (p.Gly197Glu) rs782698807
NM_000501.4(ELN):c.649T>C (p.Tyr217His)
NM_000501.4(ELN):c.717G>T (p.Ala239=) rs782502253

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