ClinVar Miner

List of variants in gene ELN studied for Inborn genetic diseases

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.278C>T (p.Pro93Leu) rs181019457 0.00048
NM_000501.4(ELN):c.1697C>T (p.Ala566Val) rs138876104 0.00043
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00019
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00018
NM_000501.4(ELN):c.992C>T (p.Pro331Leu) rs138504338 0.00017
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.2051G>A (p.Gly684Asp) rs150984896 0.00008
NM_000501.4(ELN):c.1537G>A (p.Val513Ile) rs372788076 0.00007
NM_000501.4(ELN):c.1216G>A (p.Gly406Ser) rs782563418 0.00006
NM_000501.4(ELN):c.1322C>T (p.Ala441Val) rs200444292 0.00006
NM_000501.4(ELN):c.1396G>A (p.Ala466Thr) rs536123208 0.00006
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_000501.4(ELN):c.74G>A (p.Arg25Gln) rs151272992 0.00006
NM_000501.4(ELN):c.1870G>A (p.Ala624Thr) rs782693956 0.00005
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255 0.00005
NM_000501.4(ELN):c.1088C>T (p.Ala363Val) rs571843793 0.00003
NM_000501.4(ELN):c.1202C>T (p.Ala401Val) rs782493042 0.00003
NM_000501.4(ELN):c.1405G>A (p.Ala469Thr) rs782700997 0.00003
NM_000501.4(ELN):c.1573G>A (p.Ala525Thr) rs782520738 0.00003
NM_000501.4(ELN):c.1957G>A (p.Gly653Arg) rs782707801 0.00003
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00003
NM_000501.4(ELN):c.2162G>A (p.Arg721Gln) rs782197482 0.00003
NM_000501.4(ELN):c.1288G>A (p.Gly430Arg) rs374470120 0.00002
NM_000501.4(ELN):c.1303G>A (p.Val435Ile) rs782258150 0.00002
NM_000501.4(ELN):c.20C>T (p.Ala7Val) rs559210020 0.00002
NM_000501.4(ELN):c.263C>T (p.Pro88Leu) rs781997146 0.00002
NM_000501.4(ELN):c.592C>T (p.Pro198Ser) rs782092039 0.00002
NM_000501.4(ELN):c.1171G>T (p.Val391Phe) rs782365158 0.00001
NM_000501.4(ELN):c.1243C>T (p.Pro415Ser) rs1795220277 0.00001
NM_000501.4(ELN):c.1270G>A (p.Gly424Arg) rs782066007 0.00001
NM_000501.4(ELN):c.1300G>A (p.Gly434Arg) rs782630866 0.00001
NM_000501.4(ELN):c.1321G>A (p.Ala441Thr) rs369925752 0.00001
NM_000501.4(ELN):c.1598A>T (p.Lys533Met) rs1554683304 0.00001
NM_000501.4(ELN):c.1661G>A (p.Gly554Glu) rs1554683519 0.00001
NM_000501.4(ELN):c.1873G>A (p.Ala625Thr) rs1200675959 0.00001
NM_000501.4(ELN):c.1916T>C (p.Phe639Ser) rs782280724 0.00001
NM_000501.4(ELN):c.1961G>A (p.Gly654Glu) rs1554686878 0.00001
NM_000501.4(ELN):c.2089G>A (p.Val697Met) rs1554689580 0.00001
NM_000501.4(ELN):c.901C>G (p.Pro301Ala) rs900409298 0.00001
NM_000501.4(ELN):c.1018G>A (p.Gly340Ser) rs1794489813
NM_000501.4(ELN):c.1097G>A (p.Gly366Glu) rs1794877585
NM_000501.4(ELN):c.1132G>T (p.Ala378Ser)
NM_000501.4(ELN):c.1357+1G>T rs1554680190
NM_000501.4(ELN):c.1366A>G (p.Thr456Ala) rs370603113
NM_000501.4(ELN):c.1367C>A (p.Thr456Asn) rs1284858645
NM_000501.4(ELN):c.1402G>A (p.Ala468Thr) rs1795598205
NM_000501.4(ELN):c.1459C>A (p.Pro487Thr) rs1796230403
NM_000501.4(ELN):c.1517G>T (p.Gly506Val) rs1796248029
NM_000501.4(ELN):c.1702G>A (p.Val568Ile) rs1554683612
NM_000501.4(ELN):c.1790C>T (p.Ala597Val) rs2486512409
NM_000501.4(ELN):c.1792G>C (p.Ala598Pro) rs2486512485
NM_000501.4(ELN):c.1820G>C (p.Gly607Ala)
NM_000501.4(ELN):c.1906G>A (p.Ala636Thr)
NM_000501.4(ELN):c.1946G>A (p.Gly649Glu) rs200041224
NM_000501.4(ELN):c.2014G>T (p.Ala672Ser) rs1341584995
NM_000501.4(ELN):c.2036C>T (p.Ala679Val)
NM_000501.4(ELN):c.2109C>G (p.Phe703Leu) rs149755814
NM_000501.4(ELN):c.2137G>A (p.Ala713Thr)
NM_000501.4(ELN):c.440C>T (p.Pro147Leu)
NM_000501.4(ELN):c.475C>T (p.Arg159Trp)
NM_000501.4(ELN):c.482C>A (p.Pro161His) rs1792196459
NM_000501.4(ELN):c.518C>T (p.Ala173Val)
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.823C>T (p.Pro275Ser) rs2485776068

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