ClinVar Miner

List of variants in gene ELN reported as likely benign for Supravalvar aortic stenosis

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
NM_000501.4(ELN):c.1622-13C>T rs41362346 0.00728
NM_000501.4(ELN):c.*429C>T rs62476387 0.00365
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_000501.4(ELN):c.1358-253G>A rs370619098 0.00136
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170 0.00080
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046 0.00057
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00053
NM_000501.4(ELN):c.1697C>T (p.Ala566Val) rs138876104 0.00043
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139 0.00040
NM_000501.4(ELN):c.1358-225T>C rs375867140 0.00036
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.2109C>T (p.Phe703=) rs149755814 0.00032
NM_000501.4(ELN):c.1884C>T (p.Ala628=) rs372315353 0.00031
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_000501.4(ELN):c.1747+109A>G rs782414975 0.00029
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888 0.00025
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108 0.00024
NM_000501.4(ELN):c.1994-7T>G rs375277198 0.00020
NM_000501.4(ELN):c.381G>A (p.Ala127=) rs148216123 0.00019
NM_000501.4(ELN):c.949+14G>A rs200929398 0.00019
NM_000501.4(ELN):c.1467C>T (p.Val489=) rs200512332 0.00017
NM_000501.4(ELN):c.1747+26C>T rs371491330 0.00017
NM_000501.4(ELN):c.1747+23G>A rs368791422 0.00015
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_000501.4(ELN):c.1317C>T (p.Pro439=) rs201861098 0.00014
NM_000501.4(ELN):c.196+18G>A rs374473857 0.00012
NM_000501.4(ELN):c.710G>C (p.Gly237Ala) rs934014841 0.00012
NM_000501.4(ELN):c.1357+9C>A rs372800803 0.00011
NM_000501.4(ELN):c.1358-209C>T rs569004868 0.00011
NM_000501.4(ELN):c.165G>A (p.Ala55=) rs376512299 0.00011
NM_000501.4(ELN):c.717G>A (p.Ala239=) rs782502253 0.00011
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576 0.00010
NM_000501.4(ELN):c.1206G>T (p.Gly402=) rs552147776 0.00007
NM_000501.4(ELN):c.240C>T (p.Gly80=) rs138649857 0.00007
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795 0.00006
NM_000501.4(ELN):c.1322C>T (p.Ala441Val) rs200444292 0.00006
NM_000501.4(ELN):c.1590C>T (p.Ser530=) rs782526296 0.00006
NM_000501.4(ELN):c.1767C>T (p.Ala589=) rs117816525 0.00006
NM_000501.4(ELN):c.1875C>T (p.Ala625=) rs782752342 0.00006
NM_000501.4(ELN):c.2060G>A (p.Gly687Glu) rs139547471 0.00006
NM_000501.4(ELN):c.483C>T (p.Pro161=) rs150690195 0.00006
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529 0.00006
NM_000501.4(ELN):c.2032+19C>T rs782201561 0.00005
NM_000501.4(ELN):c.213G>A (p.Ala71=) rs202194806 0.00005
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255 0.00005
NM_000501.4(ELN):c.1287C>T (p.Val429=) rs200666061 0.00004
NM_000501.4(ELN):c.1358-185G>A rs782737850 0.00004
NM_000501.4(ELN):c.159A>T (p.Gly53=) rs200810494 0.00004
NM_000501.4(ELN):c.1671C>T (p.Val557=) rs563533415 0.00004
NM_000501.4(ELN):c.1674C>T (p.Gly558=) rs182784538 0.00004
NM_000501.4(ELN):c.1747+49G>C rs201047209 0.00004
NM_000501.4(ELN):c.1872C>T (p.Ala624=) rs781807182 0.00004
NM_000501.4(ELN):c.18G>A (p.Ala6=) rs542540015 0.00004
NM_000501.4(ELN):c.1932C>T (p.Ala644=) rs782238627 0.00004
NM_000501.4(ELN):c.2067C>T (p.Ala689=) rs782657493 0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00004
NM_000501.4(ELN):c.2086+7G>T rs782306052 0.00004
NM_000501.4(ELN):c.2132-5T>A rs539160518 0.00004
NM_000501.4(ELN):c.414T>C (p.Pro138=) rs782230185 0.00004
NM_000501.4(ELN):c.528G>A (p.Lys176=) rs782412839 0.00004
NM_000501.4(ELN):c.696C>T (p.Pro232=) rs148054981 0.00004
NM_000501.4(ELN):c.1202C>T (p.Ala401Val) rs782493042 0.00003
NM_000501.4(ELN):c.134-4dup rs878854451 0.00003
NM_000501.4(ELN):c.134-6C>A rs368904789 0.00003
NM_000501.4(ELN):c.1358-230G>A rs550475158 0.00003
NM_000501.4(ELN):c.1994-13C>T rs532271061 0.00003
NM_000501.4(ELN):c.470-8C>G rs781877758 0.00003
NM_000501.4(ELN):c.799+10C>T rs781812932 0.00003
NM_000501.4(ELN):c.1299G>A (p.Pro433=) rs367742656 0.00002
NM_000501.4(ELN):c.1434C>T (p.Gly478=) rs781926084 0.00002
NM_000501.4(ELN):c.1950C>T (p.Leu650=) rs373342218 0.00002
NM_000501.4(ELN):c.196+13G>C rs370961040 0.00002
NM_000501.4(ELN):c.2131+14C>T rs782790041 0.00002
NM_000501.4(ELN):c.2132-6G>A rs781831349 0.00002
NM_000501.4(ELN):c.377-5G>A rs571360232 0.00002
NM_000501.4(ELN):c.549T>G (p.Gly183=) rs782332803 0.00002
NM_000501.4(ELN):c.800-12C>G rs370561295 0.00002
NM_000501.4(ELN):c.1050G>C (p.Gly350=) rs782727999 0.00001
NM_000501.4(ELN):c.1089G>A (p.Ala363=) rs782204123 0.00001
NM_000501.4(ELN):c.1191C>T (p.Tyr397=) rs782798160 0.00001
NM_000501.4(ELN):c.1233C>T (p.Val411=) rs202052596 0.00001
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267 0.00001
NM_000501.4(ELN):c.1316-12G>A rs782357759 0.00001
NM_000501.4(ELN):c.1316-18T>C rs782574590 0.00001
NM_000501.4(ELN):c.133+20C>T rs782637996 0.00001
NM_000501.4(ELN):c.134-10C>G rs782069123 0.00001
NM_000501.4(ELN):c.134-14C>T rs782028490 0.00001
NM_000501.4(ELN):c.134-16T>C rs782791376 0.00001
NM_000501.4(ELN):c.1506C>T (p.Gly502=) rs533649697 0.00001
NM_000501.4(ELN):c.1577-4T>C rs1554683264 0.00001
NM_000501.4(ELN):c.1622-6C>T rs1280128851 0.00001
NM_000501.4(ELN):c.163+13A>G rs782388951 0.00001
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp) rs150248865 0.00001
NM_000501.4(ELN):c.1747+14A>G rs1438687754 0.00001
NM_000501.4(ELN):c.1747+92A>C rs782216165 0.00001
NM_000501.4(ELN):c.1787-8C>G rs782713818 0.00001
NM_000501.4(ELN):c.1869C>T (p.Pro623=) rs530876235 0.00001
NM_000501.4(ELN):c.1956C>T (p.Val652=) rs1469217967 0.00001
NM_000501.4(ELN):c.2086+8del rs782078342 0.00001
NM_000501.4(ELN):c.42C>T (p.Leu14=) rs1554660052 0.00001
NM_000501.4(ELN):c.6G>A (p.Ala2=) rs782540463 0.00001
NM_000501.4(ELN):c.84G>A (p.Gly28=) rs782193520 0.00001
NM_000501.4(ELN):c.870T>C (p.Pro290=) rs1794105324 0.00001
NM_000501.4(ELN):c.885C>T (p.Ile295=) rs782196025 0.00001
NM_000501.4(ELN):c.1020C>T (p.Gly340=) rs782012004
NM_000501.4(ELN):c.1041A>T (p.Pro347=)
NM_000501.4(ELN):c.1086T>C (p.Ala362=)
NM_000501.4(ELN):c.1096+12TG[24] rs10579871
NM_000501.4(ELN):c.1096+9G>C rs1554677524
NM_000501.4(ELN):c.114T>C (p.Pro38=) rs782104032
NM_000501.4(ELN):c.1150+17C>G
NM_000501.4(ELN):c.1167C>T (p.Val389=)
NM_000501.4(ELN):c.1170A>G (p.Gly390=) rs1060504936
NM_000501.4(ELN):c.117A>T (p.Gly39=)
NM_000501.4(ELN):c.1185T>G (p.Pro395=)
NM_000501.4(ELN):c.1194G>A (p.Gly398=)
NM_000501.4(ELN):c.1215C>T (p.Pro405=)
NM_000501.4(ELN):c.1227C>A (p.Val409=)
NM_000501.4(ELN):c.1251C>T (p.Val417=) rs782315685
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1316-13C>T
NM_000501.4(ELN):c.133+16C>T rs144223231
NM_000501.4(ELN):c.134-5C>G rs202142516
NM_000501.4(ELN):c.134-5C>T
NM_000501.4(ELN):c.134-7C>A rs782721415
NM_000501.4(ELN):c.134-7C>T
NM_000501.4(ELN):c.1358-18T>A
NM_000501.4(ELN):c.1358-191G>A
NM_000501.4(ELN):c.1358-218T>G
NM_000501.4(ELN):c.1358-262C>T
NM_000501.4(ELN):c.1358-276A>G
NM_000501.4(ELN):c.138T>C (p.Ala46=)
NM_000501.4(ELN):c.1395C>T (p.Ala465=)
NM_000501.4(ELN):c.1407C>A (p.Ala469=)
NM_000501.4(ELN):c.1414+11C>T
NM_000501.4(ELN):c.1414+11dup rs782491657
NM_000501.4(ELN):c.1414+16C>T
NM_000501.4(ELN):c.1414+20G>T
NM_000501.4(ELN):c.1414+9C>T
NM_000501.4(ELN):c.1415-16C>T
NM_000501.4(ELN):c.1431C>T (p.Val477=) rs782141278
NM_000501.4(ELN):c.144C>T (p.Leu48=)
NM_000501.4(ELN):c.1509G>T (p.Val503=)
NM_000501.4(ELN):c.1524T>C (p.Gly508=)
NM_000501.4(ELN):c.1536C>T (p.Gly512=)
NM_000501.4(ELN):c.1542C>T (p.Gly514=)
NM_000501.4(ELN):c.1576+10A>G
NM_000501.4(ELN):c.1576+8T>C
NM_000501.4(ELN):c.1577-9C>G
NM_000501.4(ELN):c.15G>A (p.Thr5=)
NM_000501.4(ELN):c.1621+11C>T
NM_000501.4(ELN):c.1668T>C (p.Gly556=)
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[1] (p.562LGVGAGVPG[1]) rs782739997
NM_000501.4(ELN):c.1740C>T (p.Phe580=)
NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)
NM_000501.4(ELN):c.1747+105T>G rs536262259
NM_000501.4(ELN):c.1747+107G>C
NM_000501.4(ELN):c.1747+32C>T
NM_000501.4(ELN):c.1747+56C>T
NM_000501.4(ELN):c.1747+86C>T
NM_000501.4(ELN):c.1747+89A>G
NM_000501.4(ELN):c.1758C>T (p.Ala586=)
NM_000501.4(ELN):c.1787-11T>A rs782431386
NM_000501.4(ELN):c.1787-4G>A
NM_000501.4(ELN):c.1787-6C>T
NM_000501.4(ELN):c.1803G>T (p.Gly601=)
NM_000501.4(ELN):c.1806C>G (p.Val602=)
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg) rs781963804
NM_000501.4(ELN):c.1827C>T (p.Leu609=)
NM_000501.4(ELN):c.1848C>T (p.Gly616=)
NM_000501.4(ELN):c.1858+16A>G
NM_000501.4(ELN):c.1859-7T>C
NM_000501.4(ELN):c.1863C>T (p.Ala621=)
NM_000501.4(ELN):c.1881T>A (p.Ala627=)
NM_000501.4(ELN):c.18G>C (p.Ala6=)
NM_000501.4(ELN):c.192G>A (p.Lys64=)
NM_000501.4(ELN):c.1941C>T (p.Leu647=)
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3]) rs374813147
NM_000501.4(ELN):c.196+10A>C
NM_000501.4(ELN):c.196+17C>G
NM_000501.4(ELN):c.196+17C>T
NM_000501.4(ELN):c.197-9T>C
NM_000501.4(ELN):c.1993+7G>C
NM_000501.4(ELN):c.1994-18T>C
NM_000501.4(ELN):c.1994-6C>T
NM_000501.4(ELN):c.2033-11C>T
NM_000501.4(ELN):c.207G>T (p.Gly69=)
NM_000501.4(ELN):c.2086+12C>A rs2132668936
NM_000501.4(ELN):c.2086+13A>G
NM_000501.4(ELN):c.2086+15C>T
NM_000501.4(ELN):c.2087-4G>A
NM_000501.4(ELN):c.2106C>A (p.Gly702=)
NM_000501.4(ELN):c.2124T>C (p.Ile708=)
NM_000501.4(ELN):c.2131+10G>A
NM_000501.4(ELN):c.2148G>C (p.Gly716=) rs782642175
NM_000501.4(ELN):c.2154T>C (p.Ala718=)
NM_000501.4(ELN):c.2161C>A (p.Arg721=)
NM_000501.4(ELN):c.232+14C>G
NM_000501.4(ELN):c.233-9C>T
NM_000501.4(ELN):c.294C>T (p.Asp98=)
NM_000501.4(ELN):c.326-16T>C
NM_000501.4(ELN):c.327C>T (p.Gly109=)
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.33C>T (p.Pro11=)
NM_000501.4(ELN):c.369G>A (p.Val123=)
NM_000501.4(ELN):c.376+18G>A
NM_000501.4(ELN):c.377-14C>T
NM_000501.4(ELN):c.377-16G>A
NM_000501.4(ELN):c.384G>T (p.Val128=)
NM_000501.4(ELN):c.402C>T (p.Ala134=)
NM_000501.4(ELN):c.427+11A>G
NM_000501.4(ELN):c.427+8C>A
NM_000501.4(ELN):c.428-10T>C
NM_000501.4(ELN):c.429T>C (p.Gly143=)
NM_000501.4(ELN):c.435G>T (p.Gly145=)
NM_000501.4(ELN):c.441A>C (p.Pro147=)
NM_000501.4(ELN):c.45G>A (p.Leu15=) rs1787872217
NM_000501.4(ELN):c.470-10C>T rs200663056
NM_000501.4(ELN):c.470-6C>T
NM_000501.4(ELN):c.483C>A (p.Pro161=) rs150690195
NM_000501.4(ELN):c.48C>G (p.Leu16=)
NM_000501.4(ELN):c.541+14T>C
NM_000501.4(ELN):c.542-10A>G
NM_000501.4(ELN):c.572-19G>A
NM_000501.4(ELN):c.585T>C (p.Phe195=)
NM_000501.4(ELN):c.594G>A (p.Pro198=) rs140337204
NM_000501.4(ELN):c.594G>T (p.Pro198=) rs140337204
NM_000501.4(ELN):c.643+15C>T
NM_000501.4(ELN):c.644-13G>T rs2131638108
NM_000501.4(ELN):c.644-17CT[4]
NM_000501.4(ELN):c.644-6C>T
NM_000501.4(ELN):c.685+11C>A
NM_000501.4(ELN):c.685+18A>G
NM_000501.4(ELN):c.686-18A>G
NM_000501.4(ELN):c.69C>T (p.Pro23=)
NM_000501.4(ELN):c.6G>C (p.Ala2=)
NM_000501.4(ELN):c.705G>A (p.Val235=)
NM_000501.4(ELN):c.726T>C (p.Ala242=)
NM_000501.4(ELN):c.745+16C>T
NM_000501.4(ELN):c.746-7C>T
NM_000501.4(ELN):c.786A>T (p.Ala262=) rs782342976
NM_000501.4(ELN):c.813C>T (p.Ala271=)
NM_000501.4(ELN):c.82+13C>T
NM_000501.4(ELN):c.82+14G>A
NM_000501.4(ELN):c.83-18C>T
NM_000501.4(ELN):c.83-20C>T
NM_000501.4(ELN):c.858T>A (p.Pro286=)
NM_000501.4(ELN):c.87C>T (p.Val29=)
NM_000501.4(ELN):c.889+16G>A
NM_000501.4(ELN):c.889+20G>T
NM_000501.4(ELN):c.891C>T (p.Gly297=)
NM_000501.4(ELN):c.930C>G (p.Ala310=)
NM_000501.4(ELN):c.949+11C>T
NM_000501.4(ELN):c.949+13C>G
NM_000501.4(ELN):c.949+9C>T
NM_000501.4(ELN):c.993G>A (p.Pro331=) rs371757750

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