ClinVar Miner

List of variants in gene ELN reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
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.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_000501.4(ELN):c.1994-7T>G rs375277198 0.00020
NM_000501.4(ELN):c.992C>T (p.Pro331Leu) rs138504338 0.00017
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
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.710G>C (p.Gly237Ala) rs934014841 0.00012
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe) rs200133966 0.00011
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_000501.4(ELN):c.1043G>A (p.Gly348Glu) rs186728715 0.00010
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576 0.00010
NM_000501.4(ELN):c.1358-198G>A rs192461213 0.00008
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344 0.00008
NM_000501.4(ELN):c.1315+1G>A rs782568267 0.00007
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.1150+1G>A rs727503030 0.00006
NM_000501.4(ELN):c.1216G>A (p.Gly406Ser) rs782563418 0.00006
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795 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.145G>A (p.Gly49Arg) rs144757453 0.00005
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255 0.00005
NM_000501.4(ELN):c.1363G>A (p.Gly455Arg) rs782260475 0.00004
NM_000501.4(ELN):c.159A>T (p.Gly53=) rs200810494 0.00004
NM_000501.4(ELN):c.164-2A>C rs782096458 0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00004
NM_000501.4(ELN):c.540A>C (p.Pro180=) rs145778002 0.00004
NM_000501.4(ELN):c.593C>T (p.Pro198Leu) rs146729533 0.00004
NM_000501.4(ELN):c.799G>A (p.Gly267Ser) rs150092063 0.00004
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_000501.4(ELN):c.476G>A (p.Arg159Gln) rs369045063 0.00003
NM_000501.4(ELN):c.1282G>A (p.Gly428Arg) rs200862792 0.00002
NM_000501.4(ELN):c.1288G>A (p.Gly430Arg) rs374470120 0.00002
NM_000501.4(ELN):c.1326G>C (p.Gln442His) rs782734629 0.00002
NM_000501.4(ELN):c.1358-232G>C rs782246342 0.00002
NM_000501.4(ELN):c.20C>T (p.Ala7Val) rs559210020 0.00002
NM_000501.4(ELN):c.295G>A (p.Ala99Thr) rs782660886 0.00002
NM_000501.4(ELN):c.8G>A (p.Gly3Asp) rs1198683869 0.00002
NM_000501.4(ELN):c.1009C>T (p.Pro337Ser) rs1340826777 0.00001
NM_000501.4(ELN):c.1150+2T>C rs782126415 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000501.4(ELN):c.1300G>A (p.Gly434Arg) rs782630866 0.00001
NM_000501.4(ELN):c.1318G>A (p.Glu440Lys) rs782409012 0.00001
NM_000501.4(ELN):c.1523G>A (p.Gly508Asp) rs782398725 0.00001
NM_000501.4(ELN):c.1577-2A>T rs1230920104 0.00001
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser) rs374253638 0.00001
NM_000501.4(ELN):c.1622-6C>T rs1280128851 0.00001
NM_000501.4(ELN):c.1747+81A>G rs782668288 0.00001
NM_000501.4(ELN):c.1768G>A (p.Ala590Thr) rs868932429 0.00001
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser) rs781904032 0.00001
NM_000501.4(ELN):c.1873G>A (p.Ala625Thr) rs1200675959 0.00001
NM_000501.4(ELN):c.1876G>A (p.Ala626Thr) rs781861907 0.00001
NM_000501.4(ELN):c.1879G>A (p.Ala627Thr) rs552662894 0.00001
NM_000501.4(ELN):c.1916T>C (p.Phe639Ser) rs782280724 0.00001
NM_000501.4(ELN):c.1994-2A>C rs1440841207 0.00001
NM_000501.4(ELN):c.280G>C (p.Gly94Arg) rs1554669275 0.00001
NM_000501.4(ELN):c.443G>A (p.Gly148Asp) rs781952083 0.00001
NM_000501.4(ELN):c.686-5T>G rs1583818052 0.00001
NM_000501.4(ELN):c.689A>T (p.Tyr230Phe) rs1411516655 0.00001
NM_000501.4(ELN):c.898A>T (p.Thr300Ser) rs766735416 0.00001
NM_000501.4(ELN):c.901C>G (p.Pro301Ala) rs900409298 0.00001
NM_000501.4(ELN):c.1034_1057dup (p.Gly345_Pro352dup) rs2131923188
NM_000501.4(ELN):c.104G>A (p.Gly35Asp)
NM_000501.4(ELN):c.1073_1087del (p.Gly358_Ala362del)
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1192G>T (p.Gly398Trp) rs2229427
NM_000501.4(ELN):c.1252G>C (p.Ala418Pro) rs142438174
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg) rs2071307
NM_000501.4(ELN):c.1396G>A (p.Ala466Thr)
NM_000501.4(ELN):c.140G>C (p.Gly47Ala) rs1554665826
NM_000501.4(ELN):c.1471G>A (p.Val491Met)
NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del) rs782284755
NM_000501.4(ELN):c.1515_1550del (p.501VGVAPG[1]) rs782225994
NM_000501.4(ELN):c.1517G>T (p.Gly506Val)
NM_000501.4(ELN):c.152T>C (p.Leu51Pro)
NM_000501.4(ELN):c.1621+1G>A rs782279081
NM_000501.4(ELN):c.1639G>A (p.Gly547Ser)
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[1] (p.562LGVGAGVPG[1]) rs782739997
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[3] (p.562LGVGAGVPG[3]) rs782739997
NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)
NM_000501.4(ELN):c.1742G>A (p.Gly581Glu) rs2132324152
NM_000501.4(ELN):c.1747+36G>A
NM_000501.4(ELN):c.1747+39C>T
NM_000501.4(ELN):c.1747+93C>A rs1554683829
NM_000501.4(ELN):c.1747G>A (p.Val583Ile)
NM_000501.4(ELN):c.1778C>A (p.Ala593Asp) rs1796553212
NM_000501.4(ELN):c.1781A>C (p.Lys594Thr) rs782679448
NM_000501.4(ELN):c.1793C>T (p.Ala598Val)
NM_000501.4(ELN):c.1819G>A (p.Gly607Arg) rs781963804
NM_000501.4(ELN):c.1823C>T (p.Ala608Val) rs2132485409
NM_000501.4(ELN):c.1859G>C (p.Gly620Ala)
NM_000501.4(ELN):c.1862C>G (p.Ala621Gly) rs1797109887
NM_000501.4(ELN):c.1869CGC[5] (p.Ala630dup) rs1239601146
NM_000501.4(ELN):c.1884_1886del (p.Ala630del)
NM_000501.4(ELN):c.1894G>T (p.Ala632Ser)
NM_000501.4(ELN):c.1919-3C>G rs782532851
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala) rs200041224
NM_000501.4(ELN):c.1956_1970del (p.648GGLGV[1]) rs782015142
NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)
NM_000501.4(ELN):c.1993+1G>A
NM_000501.4(ELN):c.2068G>A (p.Gly690Arg)
NM_000501.4(ELN):c.2131+1G>A
NM_000501.4(ELN):c.2132-13_2132-11delinsAAA rs2132826181
NM_000501.4(ELN):c.2132-7C>A rs782755390
NM_000501.4(ELN):c.2134G>A (p.Gly712Arg) rs1359856150
NM_000501.4(ELN):c.2171A>T (p.Lys724Ile)
NM_000501.4(ELN):c.251C>A (p.Ala84Glu)
NM_000501.4(ELN):c.26C>T (p.Pro9Leu)
NM_000501.4(ELN):c.28C>T (p.Arg10Trp)
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.352G>T (p.Val118Phe)
NM_000501.4(ELN):c.358G>A (p.Gly120Ser)
NM_000501.4(ELN):c.376+2T>C
NM_000501.4(ELN):c.425C>A (p.Pro142Gln) rs1013508230
NM_000501.4(ELN):c.428-1G>C
NM_000501.4(ELN):c.440C>G (p.Pro147Arg)
NM_000501.4(ELN):c.463C>T (p.Leu155Phe) rs1563789663
NM_000501.4(ELN):c.484G>A (p.Gly162Ser)
NM_000501.4(ELN):c.542-1G>T
NM_000501.4(ELN):c.571+7C>T rs863223523
NM_000501.4(ELN):c.584T>C (p.Phe195Ser)
NM_000501.4(ELN):c.594G>A (p.Pro198=) rs140337204
NM_000501.4(ELN):c.645T>A (p.Gly215=)
NM_000501.4(ELN):c.661T>C (p.Tyr221His)
NM_000501.4(ELN):c.665C>T (p.Thr222Ile)
NM_000501.4(ELN):c.673A>G (p.Lys225Glu)
NM_000501.4(ELN):c.698G>C (p.Gly233Ala)
NM_000501.4(ELN):c.761C>T (p.Ala254Val) rs2131672723
NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup) rs782185396
NM_000501.4(ELN):c.785C>G (p.Ala262Gly) rs2131673490
NM_000501.4(ELN):c.805G>A (p.Gly269Arg)
NM_000501.4(ELN):c.851G>A (p.Gly284Asp) rs1287098263
NM_000501.4(ELN):c.906TGCAGC[1] (p.Ala308_Ala311del) rs782133793
NM_000501.4(ELN):c.906TGCAGC[4] (p.Ala311_Lys312insAlaAla)
NM_000501.4(ELN):c.947A>G (p.Tyr316Cys) rs2131858559

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