ClinVar Miner

List of variants in gene ELN reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP
NM_000501.3(ELN):c.-37G>C rs782267385
NM_000501.3(ELN):c.1414+11dupC rs782491657
NM_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1149C>T (p.Tyr383=) rs199621188
NM_000501.4(ELN):c.1150+188C>T
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1150+20C>G rs1554678579
NM_000501.4(ELN):c.1151-8C>T
NM_000501.4(ELN):c.1161del (p.Gly388fs) rs863223521
NM_000501.4(ELN):c.1195del (p.Val399fs) rs863223522
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser) rs1064796150
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala) rs144341345
NM_000501.4(ELN):c.1287C>T (p.Val429=) rs200666061
NM_000501.4(ELN):c.1316-12G>A rs782357759
NM_000501.4(ELN):c.1322C>T (p.Ala441Val)
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.133+16C>T rs144223231
NM_000501.4(ELN):c.133+5C>T rs375144839
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797
NM_000501.4(ELN):c.134-14C>T rs782028490
NM_000501.4(ELN):c.134-19T>C rs535249280
NM_000501.4(ELN):c.134-6C>A rs368904789
NM_000501.4(ELN):c.1358-152C>A rs1337377263
NM_000501.4(ELN):c.1358-198G>A rs192461213
NM_000501.4(ELN):c.1358-253G>A rs370619098
NM_000501.4(ELN):c.1358-268A>G
NM_000501.4(ELN):c.1358-336C>T rs74645021
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509
NM_000501.4(ELN):c.1414+180A>G
NM_000501.4(ELN):c.1414+19C>T rs201440090
NM_000501.4(ELN):c.1414+20G>A rs200995478
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.145G>A (p.Gly49Arg) rs144757453
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046
NM_000501.4(ELN):c.1537G>A (p.Val513Ile) rs372788076
NM_000501.4(ELN):c.1590C>T (p.Ser530=) rs782526296
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1622-14C>T
NM_000501.4(ELN):c.164-2A>C rs782096458
NM_000501.4(ELN):c.1671C>T (p.Val557=) rs563533415
NM_000501.4(ELN):c.1716dup (p.Val573fs) rs1554683650
NM_000501.4(ELN):c.1734T>C (p.Pro578=) rs561258201
NM_000501.4(ELN):c.1747+109A>G
NM_000501.4(ELN):c.1747+82C>A rs186744935
NM_000501.4(ELN):c.1747+92A>C rs782216165
NM_000501.4(ELN):c.1781A>C (p.Lys594Thr) rs782679448
NM_000501.4(ELN):c.1786+306G>A
NM_000501.4(ELN):c.1818C>T (p.Leu606=)
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser) rs781904032
NM_000501.4(ELN):c.1858+20G>A rs200965648
NM_000501.4(ELN):c.1859-1G>A rs863223516
NM_000501.4(ELN):c.1872C>T (p.Ala624=) rs781807182
NM_000501.4(ELN):c.1914G>A (p.Gln638=) rs782650847
NM_000501.4(ELN):c.1928_1952del (p.Gly643fs) rs863223524
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632
NM_000501.4(ELN):c.1946_1954dup (p.646_648GLG[3]) rs1554686832
NM_000501.4(ELN):c.1956C>T (p.Val652=) rs1469217967
NM_000501.4(ELN):c.196+18G>A rs374473857
NM_000501.4(ELN):c.196+194G>A
NM_000501.4(ELN):c.197-162G>A
NM_000501.4(ELN):c.197-270T>C
NM_000501.4(ELN):c.1994-13C>T rs532271061
NM_000501.4(ELN):c.1994-2A>C rs1440841207
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834
NM_000501.4(ELN):c.2031C>G (p.Tyr677Ter) rs1554688700
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser) rs375579231
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_000501.4(ELN):c.2067C>T (p.Ala689=) rs782657493
NM_000501.4(ELN):c.2087-257G>A
NM_000501.4(ELN):c.2132-286A>G
NM_000501.4(ELN):c.2132-7C>A rs782755390
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000501.4(ELN):c.232+3G>A rs377172364
NM_000501.4(ELN):c.233-296C>G
NM_000501.4(ELN):c.233-94G>A
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.326-20C>T rs200397639
NM_000501.4(ELN):c.326-59G>A
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.328G>T (p.Ala110Ser) rs137953195
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587
NM_000501.4(ELN):c.376+17C>T
NM_000501.4(ELN):c.376+5G>A rs782770862
NM_000501.4(ELN):c.427+203G>A
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255
NM_000501.4(ELN):c.477del (p.Phe160fs) rs863223519
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581
NM_000501.4(ELN):c.528G>A (p.Lys176=) rs782412839
NM_000501.4(ELN):c.571+7C>T rs863223523
NM_000501.4(ELN):c.590del (p.Gly197fs) rs863223526
NM_000501.4(ELN):c.594G>A (p.Pro198=) rs140337204
NM_000501.4(ELN):c.618T>A (p.Tyr206Ter) rs863223513
NM_000501.4(ELN):c.631C>T (p.Pro211Ser) rs1064793880
NM_000501.4(ELN):c.643+1G>A rs1131691482
NM_000501.4(ELN):c.644-8C>T rs201859539
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.686-17G>A
NM_000501.4(ELN):c.6G>A (p.Ala2=) rs782540463
NM_000501.4(ELN):c.728_729del (p.Gly243fs) rs863223527
NM_000501.4(ELN):c.774G>A (p.Ala258=) rs781921056
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.82+169C>A
NM_000501.4(ELN):c.848dup (p.Gly284fs) rs863223528
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.889+1G>A rs782238674
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344
NM_000501.4(ELN):c.949+14G>A rs200929398

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