ClinVar Miner

List of variants in gene ELAC2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 379
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup) rs1555571246 0.00144
NM_018127.7(ELAC2):c.1659G>A (p.Thr553=) rs200420215 0.00032
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val) rs149544601 0.00024
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met) rs149561185 0.00020
NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys) rs374954001 0.00017
NM_018127.7(ELAC2):c.2375C>T (p.Ala792Val) rs767378629 0.00016
NM_018127.7(ELAC2):c.632G>A (p.Arg211Gln) rs148419785 0.00016
NM_018127.7(ELAC2):c.1283G>A (p.Arg428His) rs376713626 0.00014
NM_018127.7(ELAC2):c.1319C>T (p.Thr440Ile) rs373125478 0.00013
NM_018127.7(ELAC2):c.395G>C (p.Gly132Ala) rs377463613 0.00011
NM_018127.7(ELAC2):c.1955C>T (p.Ala652Val) rs761881914 0.00010
NM_018127.7(ELAC2):c.1705T>G (p.Leu569Val) rs375606970 0.00009
NM_018127.7(ELAC2):c.1799A>G (p.His600Arg) rs764718787 0.00007
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr) rs762471494 0.00007
NM_018127.7(ELAC2):c.2404G>A (p.Gly802Ser) rs147779718 0.00007
NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser) rs1217149676 0.00006
NM_018127.7(ELAC2):c.1908+5G>A rs753540327 0.00006
NM_018127.7(ELAC2):c.98G>T (p.Arg33Leu) rs771550822 0.00006
NM_018127.7(ELAC2):c.1210C>T (p.Arg404Cys) rs543132773 0.00005
NM_018127.7(ELAC2):c.2221G>A (p.Glu741Lys) rs376277988 0.00005
NM_018127.7(ELAC2):c.560G>C (p.Ser187Thr) rs750475807 0.00005
NM_018127.7(ELAC2):c.814G>A (p.Ala272Thr) rs765353090 0.00005
NM_018127.7(ELAC2):c.1098G>C (p.Gln366His) rs373534638 0.00004
NM_018127.7(ELAC2):c.1142G>A (p.Arg381His) rs756803645 0.00004
NM_018127.7(ELAC2):c.1378G>A (p.Val460Met) rs775449483 0.00004
NM_018127.7(ELAC2):c.152G>T (p.Cys51Phe) rs777786097 0.00004
NM_018127.7(ELAC2):c.2275A>G (p.Thr759Ala) rs199998904 0.00004
NM_018127.7(ELAC2):c.311G>A (p.Arg104His) rs201871417 0.00004
NM_018127.7(ELAC2):c.319A>G (p.Asn107Asp) rs781676615 0.00004
NM_018127.7(ELAC2):c.1042G>A (p.Val348Met) rs370476174 0.00003
NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr) rs1404085657 0.00003
NM_018127.7(ELAC2):c.1181C>T (p.Pro394Leu) rs1347935204 0.00003
NM_018127.7(ELAC2):c.1521C>T (p.Ser507=) rs772549996 0.00003
NM_018127.7(ELAC2):c.1525G>A (p.Asp509Asn) rs149866327 0.00003
NM_018127.7(ELAC2):c.1576C>T (p.Arg526Cys) rs760945874 0.00003
NM_018127.7(ELAC2):c.1858G>A (p.Ala620Thr) rs960361937 0.00003
NM_018127.7(ELAC2):c.2372G>A (p.Arg791Gln) rs148819805 0.00003
NM_018127.7(ELAC2):c.35C>T (p.Ala12Val) rs111252262 0.00003
NM_018127.7(ELAC2):c.394G>A (p.Gly132Arg) rs374005835 0.00003
NM_018127.7(ELAC2):c.445G>A (p.Glu149Lys) rs779607134 0.00003
NM_018127.7(ELAC2):c.46A>G (p.Met16Val) rs533396669 0.00003
NM_018127.7(ELAC2):c.659A>G (p.Asn220Ser) rs779111320 0.00003
NM_018127.7(ELAC2):c.856C>T (p.His286Tyr) rs1184764865 0.00003
NM_018127.7(ELAC2):c.1351C>A (p.Leu451Met) rs761514025 0.00002
NM_018127.7(ELAC2):c.1490G>A (p.Arg497Gln) rs531523727 0.00002
NM_018127.7(ELAC2):c.1577G>A (p.Arg526His) rs775698705 0.00002
NM_018127.7(ELAC2):c.1613C>G (p.Thr538Ser) rs770299965 0.00002
NM_018127.7(ELAC2):c.1645G>A (p.Ala549Thr) rs757284769 0.00002
NM_018127.7(ELAC2):c.19C>G (p.Leu7Val) rs1003043105 0.00002
NM_018127.7(ELAC2):c.2363G>A (p.Arg788Gln) rs567494102 0.00002
NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp) rs767611235 0.00002
NM_018127.7(ELAC2):c.293A>G (p.His98Arg) rs1471918559 0.00002
NM_018127.7(ELAC2):c.512C>T (p.Pro171Leu) rs139453392 0.00002
NM_018127.7(ELAC2):c.550C>T (p.Pro184Ser) rs755308728 0.00002
NM_018127.7(ELAC2):c.566A>G (p.Gln189Arg) rs779337966 0.00002
NM_018127.7(ELAC2):c.65T>C (p.Ile22Thr) rs934103595 0.00002
NM_018127.7(ELAC2):c.680G>A (p.Gly227Asp) rs746132751 0.00002
NM_018127.7(ELAC2):c.721G>A (p.Val241Ile) rs766704172 0.00002
NM_018127.7(ELAC2):c.841G>A (p.Gly281Arg) rs147215643 0.00002
NM_018127.7(ELAC2):c.8C>T (p.Ala3Val) rs1273371887 0.00002
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs) rs387906327 0.00001
NM_018127.7(ELAC2):c.1004C>T (p.Ala335Val) rs187079048 0.00001
NM_018127.7(ELAC2):c.1078A>T (p.Arg360Trp) rs757575765 0.00001
NM_018127.7(ELAC2):c.1151A>T (p.Lys384Met) rs752533400 0.00001
NM_018127.7(ELAC2):c.1282C>T (p.Arg428Cys) rs775958815 0.00001
NM_018127.7(ELAC2):c.1286C>G (p.Pro429Arg) rs1285444804 0.00001
NM_018127.7(ELAC2):c.1323C>G (p.Cys441Trp) rs1567751438 0.00001
NM_018127.7(ELAC2):c.134A>G (p.Lys45Arg) rs745328310 0.00001
NM_018127.7(ELAC2):c.136C>T (p.Arg46Cys) rs2041835898 0.00001
NM_018127.7(ELAC2):c.1375A>G (p.Ser459Gly) rs760132087 0.00001
NM_018127.7(ELAC2):c.1400C>T (p.Ala467Val) rs749460308 0.00001
NM_018127.7(ELAC2):c.1436A>G (p.Gln479Arg) rs1165336639 0.00001
NM_018127.7(ELAC2):c.1441C>G (p.Pro481Ala) rs1474253067 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_018127.7(ELAC2):c.146C>T (p.Ser49Leu) rs1235154753 0.00001
NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr) rs1240684251 0.00001
NM_018127.7(ELAC2):c.1646C>T (p.Ala549Val) rs753617499 0.00001
NM_018127.7(ELAC2):c.1658C>T (p.Thr553Met) rs755904309 0.00001
NM_018127.7(ELAC2):c.1669A>G (p.Ser557Gly) rs920039553 0.00001
NM_018127.7(ELAC2):c.1728G>C (p.Leu576Phe) rs2040437747 0.00001
NM_018127.7(ELAC2):c.1820C>T (p.Ala607Val) rs913207452 0.00001
NM_018127.7(ELAC2):c.1876A>G (p.Ser626Gly) rs745680653 0.00001
NM_018127.7(ELAC2):c.1915A>G (p.Thr639Ala) rs758792385 0.00001
NM_018127.7(ELAC2):c.1927C>T (p.Arg643Trp) rs373464578 0.00001
NM_018127.7(ELAC2):c.1988A>G (p.Tyr663Cys) rs781379178 0.00001
NM_018127.7(ELAC2):c.1993G>A (p.Gly665Arg) rs777258865 0.00001
NM_018127.7(ELAC2):c.2011G>A (p.Glu671Lys) rs754567726 0.00001
NM_018127.7(ELAC2):c.2020G>A (p.Val674Ile) rs750302074 0.00001
NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp) rs1157458251 0.00001
NM_018127.7(ELAC2):c.2024G>A (p.Arg675Gln) rs765368974 0.00001
NM_018127.7(ELAC2):c.2109-19C>G rs893950337 0.00001
NM_018127.7(ELAC2):c.2131G>A (p.Val711Met) rs560136994 0.00001
NM_018127.7(ELAC2):c.2149G>A (p.Ala717Thr) rs796103645 0.00001
NM_018127.7(ELAC2):c.2163G>T (p.Met721Ile) rs769609689 0.00001
NM_018127.7(ELAC2):c.2249T>G (p.Met750Arg) rs769686385 0.00001
NM_018127.7(ELAC2):c.224A>G (p.Tyr75Cys) rs137859574 0.00001
NM_018127.7(ELAC2):c.226G>A (p.Val76Ile) rs377073548 0.00001
NM_018127.7(ELAC2):c.2291T>G (p.Ile764Ser) rs779668862 0.00001
NM_018127.7(ELAC2):c.2333T>C (p.Met778Thr) rs774664159 0.00001
NM_018127.7(ELAC2):c.2341C>T (p.Arg781Cys) rs770865114 0.00001
NM_018127.7(ELAC2):c.2423C>T (p.Pro808Leu) rs1187954440 0.00001
NM_018127.7(ELAC2):c.2426A>T (p.Gln809Leu) rs922510869 0.00001
NM_018127.7(ELAC2):c.2445_2447del (p.Glu817del) rs1377575423 0.00001
NM_018127.7(ELAC2):c.2455C>T (p.Gln819Ter) rs1439706479 0.00001
NM_018127.7(ELAC2):c.2467G>T (p.Val823Phe) rs376515152 0.00001
NM_018127.7(ELAC2):c.259T>C (p.Cys87Arg) rs753052433 0.00001
NM_018127.7(ELAC2):c.271G>A (p.Val91Ile) rs750042259 0.00001
NM_018127.7(ELAC2):c.310C>T (p.Arg104Cys) rs748205884 0.00001
NM_018127.7(ELAC2):c.372G>A (p.Met124Ile) rs765484266 0.00001
NM_018127.7(ELAC2):c.50C>T (p.Ser17Leu) rs765096739 0.00001
NM_018127.7(ELAC2):c.511C>T (p.Pro171Ser) rs775086832 0.00001
NM_018127.7(ELAC2):c.546G>C (p.Gln182His) rs747959167 0.00001
NM_018127.7(ELAC2):c.560-10T>C rs1318229217 0.00001
NM_018127.7(ELAC2):c.623G>A (p.Ser208Asn) rs1392434007 0.00001
NM_018127.7(ELAC2):c.631C>T (p.Arg211Ter) rs761881815 0.00001
NM_018127.7(ELAC2):c.668A>G (p.His223Arg) rs745937151 0.00001
NM_018127.7(ELAC2):c.677A>G (p.His226Arg) rs757735135 0.00001
NM_018127.7(ELAC2):c.703A>G (p.Arg235Gly) rs1567767157 0.00001
NM_018127.7(ELAC2):c.716T>C (p.Leu239Pro) rs750047784 0.00001
NM_018127.7(ELAC2):c.82C>T (p.Arg28Cys) rs763864314 0.00001
NM_018127.7(ELAC2):c.895C>A (p.Pro299Thr) rs771897223 0.00001
NM_018127.7(ELAC2):c.908G>C (p.Gly303Ala) rs188256643 0.00001
NM_018127.7(ELAC2):c.967A>G (p.Asn323Asp) rs1305210872 0.00001
NM_018127.7(ELAC2):c.983+6G>C rs1288953158 0.00001
NC_000017.10:g.(?_12896135)_(12909316_?)dup
NC_000017.10:g.(?_12896135)_(12921264_?)dup
NC_000017.10:g.(?_12896201)_(12896263_?)dup
NC_000017.11:g.13016942_13016943insGAAAACATTTAAACAGGATAACATGAACAGAACAAGCAACCTTTAACCTAAGAATGA
NM_018127.7(ELAC2):c.1006C>T (p.Pro336Ser) rs565351884
NM_018127.7(ELAC2):c.1017GGT[1] (p.Val341del) rs1344475140
NM_018127.7(ELAC2):c.1030G>A (p.Ala344Thr)
NM_018127.7(ELAC2):c.1034C>G (p.Pro345Arg) rs2143612955
NM_018127.7(ELAC2):c.1039T>C (p.Ser347Pro)
NM_018127.7(ELAC2):c.1048G>A (p.Val350Met) rs2143612862
NM_018127.7(ELAC2):c.1049T>G (p.Val350Gly) rs2143612845
NM_018127.7(ELAC2):c.1052A>G (p.Asp351Gly)
NM_018127.7(ELAC2):c.1053C>G (p.Asp351Glu) rs991150757
NM_018127.7(ELAC2):c.106C>T (p.Pro36Ser)
NM_018127.7(ELAC2):c.1079+19C>T
NM_018127.7(ELAC2):c.107C>T (p.Pro36Leu)
NM_018127.7(ELAC2):c.1080-3C>T rs538756575
NM_018127.7(ELAC2):c.1081T>G (p.Phe361Val)
NM_018127.7(ELAC2):c.1094C>T (p.Thr365Ile) rs1000361851
NM_018127.7(ELAC2):c.1108C>G (p.Leu370Val) rs2143606789
NM_018127.7(ELAC2):c.1120_1121delinsCT (p.Cys374Leu) rs2143606682
NM_018127.7(ELAC2):c.1129G>T (p.Val377Phe) rs1411516008
NM_018127.7(ELAC2):c.1137C>A (p.Asn379Lys)
NM_018127.7(ELAC2):c.1147C>A (p.His383Asn) rs187129692
NM_018127.7(ELAC2):c.1147C>T (p.His383Tyr)
NM_018127.7(ELAC2):c.1163A>G (p.Gln388Arg) rs759815679
NM_018127.7(ELAC2):c.1169A>G (p.Asn390Ser)
NM_018127.7(ELAC2):c.1171C>G (p.Leu391Val)
NM_018127.7(ELAC2):c.117C>A (p.His39Gln) rs748570371
NM_018127.7(ELAC2):c.1186A>T (p.Ile396Phe) rs149544601
NM_018127.7(ELAC2):c.1189T>C (p.Phe397Leu) rs2143606118
NM_018127.7(ELAC2):c.118C>G (p.Leu40Val)
NM_018127.7(ELAC2):c.1211G>A (p.Arg404His) rs200565641
NM_018127.7(ELAC2):c.1211G>T (p.Arg404Leu) rs200565641
NM_018127.7(ELAC2):c.1214G>A (p.Cys405Tyr)
NM_018127.7(ELAC2):c.1218+5T>C rs1365154419
NM_018127.7(ELAC2):c.1218G>A (p.Lys406=) rs777546567
NM_018127.7(ELAC2):c.1237A>T (p.Ser413Cys) rs754722229
NM_018127.7(ELAC2):c.1238G>A (p.Ser413Asn) rs1446980653
NM_018127.7(ELAC2):c.1248G>A (p.Met416Ile)
NM_018127.7(ELAC2):c.1255G>A (p.Gly419Ser)
NM_018127.7(ELAC2):c.1262G>C (p.Cys421Ser)
NM_018127.7(ELAC2):c.1264C>T (p.Leu422Phe) rs1311991142
NM_018127.7(ELAC2):c.1289G>C (p.Arg430Thr)
NM_018127.7(ELAC2):c.1305G>T (p.Arg435Ser) rs1205360358
NM_018127.7(ELAC2):c.1348G>T (p.Ala450Ser)
NM_018127.7(ELAC2):c.1349C>T (p.Ala450Val)
NM_018127.7(ELAC2):c.134A>C (p.Lys45Thr) rs745328310
NM_018127.7(ELAC2):c.1373A>G (p.Gln458Arg) rs1567751319
NM_018127.7(ELAC2):c.1385A>C (p.Glu462Ala) rs1310120837
NM_018127.7(ELAC2):c.1392GAG[1] (p.Arg465del) rs758221167
NM_018127.7(ELAC2):c.1394G>A (p.Arg465Lys)
NM_018127.7(ELAC2):c.1405G>A (p.Asp469Asn)
NM_018127.7(ELAC2):c.1418C>A (p.Pro473Gln)
NM_018127.7(ELAC2):c.1424-3C>T rs878855048
NM_018127.7(ELAC2):c.1428AAG[1] (p.Arg477del) rs779224899
NM_018127.7(ELAC2):c.1431A>T (p.Arg477Ser)
NM_018127.7(ELAC2):c.1434T>A (p.Ser478Arg)
NM_018127.7(ELAC2):c.1442C>T (p.Pro481Leu)
NM_018127.7(ELAC2):c.145T>C (p.Ser49Pro) rs1555584447
NM_018127.7(ELAC2):c.1463C>G (p.Thr488Arg)
NM_018127.7(ELAC2):c.1463C>T (p.Thr488Ile) rs931963687
NM_018127.7(ELAC2):c.1476C>G (p.Ile492Met)
NM_018127.7(ELAC2):c.1478C>G (p.Pro493Arg)
NM_018127.7(ELAC2):c.1481T>C (p.Met494Thr)
NM_018127.7(ELAC2):c.1507C>T (p.Leu503Phe)
NM_018127.7(ELAC2):c.151T>C (p.Cys51Arg) rs2041834237
NM_018127.7(ELAC2):c.1547G>A (p.Cys516Tyr) rs970054118
NM_018127.7(ELAC2):c.154T>C (p.Ser52Pro) rs755823018
NM_018127.7(ELAC2):c.1550G>T (p.Gly517Val)
NM_018127.7(ELAC2):c.1559_1560inv (p.Thr520Met)
NM_018127.7(ELAC2):c.155C>A (p.Ser52Tyr) rs9895963
NM_018127.7(ELAC2):c.1563T>G (p.Phe521Leu) rs761488832
NM_018127.7(ELAC2):c.157G>T (p.Gly53Cys) rs1598280792
NM_018127.7(ELAC2):c.1585G>A (p.Gly529Arg) rs1567746262
NM_018127.7(ELAC2):c.161G>T (p.Gly54Val)
NM_018127.7(ELAC2):c.1630G>T (p.Val544Leu)
NM_018127.7(ELAC2):c.1639C>A (p.Leu547Met)
NM_018127.7(ELAC2):c.1648G>T (p.Asp550Tyr)
NM_018127.7(ELAC2):c.1651C>A (p.His551Asn) rs1487812489
NM_018127.7(ELAC2):c.1659+2dup
NM_018127.7(ELAC2):c.1659+3G>A rs374767852
NM_018127.7(ELAC2):c.1659+5G>A rs2143568451
NM_018127.7(ELAC2):c.1659G>C (p.Thr553=)
NM_018127.7(ELAC2):c.1666C>G (p.Pro556Ala) rs2040449069
NM_018127.7(ELAC2):c.1670G>A (p.Ser557Asn)
NM_018127.7(ELAC2):c.1673T>C (p.Ile558Thr)
NM_018127.7(ELAC2):c.1675T>G (p.Leu559Val)
NM_018127.7(ELAC2):c.1676TGC[1] (p.Leu560del) rs2040448051
NM_018127.7(ELAC2):c.1679T>A (p.Leu560Gln)
NM_018127.7(ELAC2):c.1690C>T (p.Arg564Cys)
NM_018127.7(ELAC2):c.1693G>A (p.Ala565Thr)
NM_018127.7(ELAC2):c.1698+5G>A rs910420350
NM_018127.7(ELAC2):c.1702T>C (p.Ser568Pro) rs2143562579
NM_018127.7(ELAC2):c.1715C>T (p.Pro572Leu)
NM_018127.7(ELAC2):c.1729C>G (p.Leu577Val)
NM_018127.7(ELAC2):c.1731_1732delinsCT (p.Val578Leu) rs2143562254
NM_018127.7(ELAC2):c.1735G>C (p.Val579Leu) rs1365874986
NM_018127.7(ELAC2):c.1745A>G (p.Asn582Ser)
NM_018127.7(ELAC2):c.1770G>C (p.Gln590His)
NM_018127.7(ELAC2):c.1778A>G (p.Asn593Ser)
NM_018127.7(ELAC2):c.1780C>G (p.Gln594Glu) rs1435693717
NM_018127.7(ELAC2):c.1796T>C (p.Leu599Pro) rs2143561613
NM_018127.7(ELAC2):c.1808+4A>G rs1044835449
NM_018127.7(ELAC2):c.1823A>G (p.Lys608Arg) rs2143557076
NM_018127.7(ELAC2):c.183G>T (p.Gln61His)
NM_018127.7(ELAC2):c.1848C>G (p.Ile616Met)
NM_018127.7(ELAC2):c.184G>C (p.Val62Leu)
NM_018127.7(ELAC2):c.1850C>G (p.Ser617Cys) rs2143556871
NM_018127.7(ELAC2):c.1861G>C (p.Val621Leu)
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) rs119484087
NM_018127.7(ELAC2):c.1889G>A (p.Arg630Gln)
NM_018127.7(ELAC2):c.1897G>A (p.Asp633Asn) rs2143556453
NM_018127.7(ELAC2):c.1908+3A>G rs1164400207
NM_018127.7(ELAC2):c.1908G>A (p.Glu636=)
NM_018127.7(ELAC2):c.1928G>A (p.Arg643Gln) rs199545091
NM_018127.7(ELAC2):c.1928G>T (p.Arg643Leu)
NM_018127.7(ELAC2):c.1937A>G (p.Lys646Arg)
NM_018127.7(ELAC2):c.1940A>T (p.His647Leu) rs1343793177
NM_018127.7(ELAC2):c.1985T>C (p.Val662Ala) rs1555572124
NM_018127.7(ELAC2):c.1999A>G (p.Thr667Ala)
NM_018127.7(ELAC2):c.2000C>T (p.Thr667Ile) rs961586097
NM_018127.7(ELAC2):c.2003T>C (p.Met668Thr) rs376231184
NM_018127.7(ELAC2):c.200G>T (p.Ser67Ile) rs1386145788
NM_018127.7(ELAC2):c.2026A>G (p.Met676Val) rs2143554465
NM_018127.7(ELAC2):c.2029+11G>T rs2143554341
NM_018127.7(ELAC2):c.2029+5G>A
NM_018127.7(ELAC2):c.202C>T (p.Arg68Trp)
NM_018127.7(ELAC2):c.2030-11T>C
NM_018127.7(ELAC2):c.2066T>G (p.Leu689Arg) rs2040364723
NM_018127.7(ELAC2):c.2080G>A (p.Glu694Lys) rs1426760558
NM_018127.7(ELAC2):c.2096A>C (p.Glu699Ala)
NM_018127.7(ELAC2):c.2114C>A (p.Thr705Lys)
NM_018127.7(ELAC2):c.2123C>T (p.Ala708Val) rs2040327532
NM_018127.7(ELAC2):c.212G>C (p.Gly71Ala) rs1185274134
NM_018127.7(ELAC2):c.214G>A (p.Ala72Thr)
NM_018127.7(ELAC2):c.215C>T (p.Ala72Val)
NM_018127.7(ELAC2):c.2183G>A (p.Arg728His)
NM_018127.7(ELAC2):c.218C>A (p.Ala73Glu) rs2143696607
NM_018127.7(ELAC2):c.2209C>T (p.Pro737Ser) rs2143547589
NM_018127.7(ELAC2):c.220C>T (p.Leu74Phe) rs752421786
NM_018127.7(ELAC2):c.2227G>A (p.Val743Met)
NM_018127.7(ELAC2):c.2233G>A (p.Val745Ile)
NM_018127.7(ELAC2):c.223T>C (p.Tyr75His)
NM_018127.7(ELAC2):c.2249T>C (p.Met750Thr)
NM_018127.7(ELAC2):c.2253+6_2253+321del rs2143544217
NM_018127.7(ELAC2):c.2255T>C (p.Val752Ala)
NM_018127.7(ELAC2):c.2266_2267del (p.Asp756fs) rs2040267666
NM_018127.7(ELAC2):c.2278_2298dup (p.Pro766_Leu767insMetProLysLeuIleProPro)
NM_018127.7(ELAC2):c.2297C>A (p.Pro766Gln)
NM_018127.7(ELAC2):c.2308_2309del (p.Leu770fs) rs753154933
NM_018127.7(ELAC2):c.2312_2313del (p.Phe771fs)
NM_018127.7(ELAC2):c.2320G>A (p.Asp774Asn)
NM_018127.7(ELAC2):c.2323A>G (p.Ile775Val)
NM_018127.7(ELAC2):c.2324T>A (p.Ile775Asn) rs1470895228
NM_018127.7(ELAC2):c.2326G>A (p.Glu776Lys)
NM_018127.7(ELAC2):c.2332A>C (p.Met778Leu)
NM_018127.7(ELAC2):c.2338_2349del (p.Glu780_Glu783del) rs1395507635
NM_018127.7(ELAC2):c.2342G>T (p.Arg781Leu) rs119484086
NM_018127.7(ELAC2):c.2351A>G (p.Lys784Arg)
NM_018127.7(ELAC2):c.2353C>T (p.Arg785Trp) rs1060502162
NM_018127.7(ELAC2):c.2365_2373dup (p.Arg791_Ala792insGlnValArg)
NM_018127.7(ELAC2):c.2367G>T (p.Gln789His) rs2143540323
NM_018127.7(ELAC2):c.2368G>A (p.Val790Met)
NM_018127.7(ELAC2):c.2374G>A (p.Ala792Thr) rs1567738119
NM_018127.7(ELAC2):c.2375_2380del (p.Ala792_Leu794delinsVal) rs2143540081
NM_018127.7(ELAC2):c.2380C>T (p.Leu794Phe)
NM_018127.7(ELAC2):c.2384T>C (p.Leu795Pro) rs917643446
NM_018127.7(ELAC2):c.2390G>A (p.Arg797Lys)
NM_018127.7(ELAC2):c.2392_2393delinsTT (p.Glu798Leu) rs2143539834
NM_018127.7(ELAC2):c.2392_2393inv (p.Glu798Ser)
NM_018127.7(ELAC2):c.2402G>A (p.Gly801Asp)
NM_018127.7(ELAC2):c.240C>G (p.Phe80Leu) rs764484752
NM_018127.7(ELAC2):c.2410del (p.Glu804fs) rs2143539521
NM_018127.7(ELAC2):c.2412G>T (p.Glu804Asp)
NM_018127.7(ELAC2):c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) rs878855051
NM_018127.7(ELAC2):c.2422C>T (p.Pro808Ser)
NM_018127.7(ELAC2):c.2435G>A (p.Arg812Gln) rs560083267
NM_018127.7(ELAC2):c.2449G>A (p.Glu817Lys)
NM_018127.7(ELAC2):c.2457G>C (p.Gln819His)
NM_018127.7(ELAC2):c.2458G>A (p.Ala820Thr)
NM_018127.7(ELAC2):c.2459C>G (p.Ala820Gly) rs1412024900
NM_018127.7(ELAC2):c.2465A>C (p.Lys822Thr)
NM_018127.7(ELAC2):c.2467G>A (p.Val823Ile)
NM_018127.7(ELAC2):c.2472_2473del (p.Arg824fs) rs2143538654
NM_018127.7(ELAC2):c.257A>G (p.Asn86Ser)
NM_018127.7(ELAC2):c.268G>A (p.Gly90Ser)
NM_018127.7(ELAC2):c.283A>G (p.Met95Val)
NM_018127.7(ELAC2):c.291G>C (p.Glu97Asp)
NM_018127.7(ELAC2):c.297-3T>A
NM_018127.7(ELAC2):c.29C>T (p.Ser10Phe) rs2143698286
NM_018127.7(ELAC2):c.317A>G (p.Asp106Gly)
NM_018127.7(ELAC2):c.325T>C (p.Phe109Leu) rs1060502163
NM_018127.7(ELAC2):c.361T>G (p.Leu121Val)
NM_018127.7(ELAC2):c.368G>A (p.Gly123Glu)
NM_018127.7(ELAC2):c.385A>G (p.Lys129Glu) rs776742204
NM_018127.7(ELAC2):c.38G>A (p.Gly13Glu)
NM_018127.7(ELAC2):c.391A>G (p.Thr131Ala) rs2143685296
NM_018127.7(ELAC2):c.415T>C (p.Ser139Pro)
NM_018127.7(ELAC2):c.422C>T (p.Pro141Leu) rs1598274263
NM_018127.7(ELAC2):c.432+1del rs766739618
NM_018127.7(ELAC2):c.433G>A (p.Glu145Lys)
NM_018127.7(ELAC2):c.472T>G (p.Leu158Val)
NM_018127.7(ELAC2):c.48G>A (p.Met16Ile)
NM_018127.7(ELAC2):c.490+5G>A
NM_018127.7(ELAC2):c.491C>A (p.Ala164Asp)
NM_018127.7(ELAC2):c.493G>C (p.Val165Leu) rs2143670315
NM_018127.7(ELAC2):c.496C>G (p.Arg166Gly)
NM_018127.7(ELAC2):c.496C>T (p.Arg166Trp)
NM_018127.7(ELAC2):c.499C>T (p.Pro167Ser)
NM_018127.7(ELAC2):c.50C>G (p.Ser17Trp)
NM_018127.7(ELAC2):c.526G>A (p.Glu176Lys)
NM_018127.7(ELAC2):c.532A>G (p.Met178Val) rs1052094774
NM_018127.7(ELAC2):c.536C>T (p.Thr179Ile) rs2143669875
NM_018127.7(ELAC2):c.53A>C (p.Gln18Pro)
NM_018127.7(ELAC2):c.549C>G (p.Ile183Met)
NM_018127.7(ELAC2):c.554T>C (p.Ile185Thr)
NM_018127.7(ELAC2):c.557A>G (p.His186Arg)
NM_018127.7(ELAC2):c.560-18G>A
NM_018127.7(ELAC2):c.560-1G>A rs2143661948
NM_018127.7(ELAC2):c.56_73del (p.Gly19_Gln24del) rs771710773
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) rs1359575116
NM_018127.7(ELAC2):c.593A>G (p.Gln198Arg)
NM_018127.7(ELAC2):c.597T>A (p.Ser199Arg)
NM_018127.7(ELAC2):c.604A>G (p.Arg202Gly)
NM_018127.7(ELAC2):c.613A>G (p.Ser205Gly) rs2143661549
NM_018127.7(ELAC2):c.640G>C (p.Asp214His)
NM_018127.7(ELAC2):c.646G>A (p.Glu216Lys) rs1382116568
NM_018127.7(ELAC2):c.660T>G (p.Asn220Lys)
NM_018127.7(ELAC2):c.665C>G (p.Pro222Arg) rs2143661121
NM_018127.7(ELAC2):c.667C>T (p.His223Tyr) rs1335862034
NM_018127.7(ELAC2):c.66A>G (p.Ile22Met) rs2041840491
NM_018127.7(ELAC2):c.689A>G (p.Gln230Arg)
NM_018127.7(ELAC2):c.692G>A (p.Arg231Lys) rs1259675163
NM_018127.7(ELAC2):c.713C>T (p.Ser238Phe)
NM_018127.7(ELAC2):c.739-13_739-9del
NM_018127.7(ELAC2):c.744C>G (p.His248Gln)
NM_018127.7(ELAC2):c.752G>A (p.Arg251Lys) rs2041085908
NM_018127.7(ELAC2):c.793C>G (p.Pro265Ala)
NM_018127.7(ELAC2):c.797+11G>C
NM_018127.7(ELAC2):c.814G>T (p.Ala272Ser) rs765353090
NM_018127.7(ELAC2):c.838G>A (p.Asp280Asn) rs953161128
NM_018127.7(ELAC2):c.83G>A (p.Arg28His) rs1192697057
NM_018127.7(ELAC2):c.840C>G (p.Asp280Glu) rs369092504
NM_018127.7(ELAC2):c.851_853del (p.Ile284del) rs2041067692
NM_018127.7(ELAC2):c.85_86delinsTT (p.Arg29Phe) rs2143697792
NM_018127.7(ELAC2):c.871-10G>A
NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)
NM_018127.7(ELAC2):c.8C>G (p.Ala3Gly)
NM_018127.7(ELAC2):c.908G>T (p.Gly303Val) rs188256643
NM_018127.7(ELAC2):c.934C>T (p.Pro312Ser) rs912946000
NM_018127.7(ELAC2):c.949A>G (p.Ile317Val) rs2041026993
NM_018127.7(ELAC2):c.984-8C>A rs2143613374
NM_018127.7(ELAC2):c.997G>A (p.Ala333Thr) rs2143613231
NM_018127.7(ELAC2):c.998C>T (p.Ala333Val)

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