ClinVar Miner

List of variants in gene ELN studied for Inborn genetic diseases

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Total variants: 40
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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.992C>T (p.Pro331Leu) rs138504338 0.00017
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
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.1543G>A (p.Val515Met) rs376258672 0.00006
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255 0.00005
NM_000501.4(ELN):c.1288G>A (p.Gly430Arg) rs374470120 0.00002
NM_000501.4(ELN):c.20C>T (p.Ala7Val) rs559210020 0.00002
NM_000501.4(ELN):c.1916T>C (p.Phe639Ser) rs782280724 0.00001
NM_000501.4(ELN):c.901C>G (p.Pro301Ala) rs900409298 0.00001
NM_000501.4(ELN):c.1018G>A (p.Gly340Ser)
NM_000501.4(ELN):c.1097G>A (p.Gly366Glu)
NM_000501.4(ELN):c.1171G>T (p.Val391Phe)
NM_000501.4(ELN):c.1243C>T (p.Pro415Ser)
NM_000501.4(ELN):c.1270G>A (p.Gly424Arg)
NM_000501.4(ELN):c.1303G>A (p.Val435Ile)
NM_000501.4(ELN):c.1321G>A (p.Ala441Thr)
NM_000501.4(ELN):c.1357+1G>T rs1554680190
NM_000501.4(ELN):c.1367C>A (p.Thr456Asn)
NM_000501.4(ELN):c.1396G>A (p.Ala466Thr)
NM_000501.4(ELN):c.1402G>A (p.Ala468Thr)
NM_000501.4(ELN):c.1517G>T (p.Gly506Val)
NM_000501.4(ELN):c.1573G>A (p.Ala525Thr)
NM_000501.4(ELN):c.1598A>T (p.Lys533Met)
NM_000501.4(ELN):c.1661G>A (p.Gly554Glu)
NM_000501.4(ELN):c.1790C>T (p.Ala597Val)
NM_000501.4(ELN):c.1792G>C (p.Ala598Pro)
NM_000501.4(ELN):c.1946G>A (p.Gly649Glu) rs200041224
NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)
NM_000501.4(ELN):c.2089G>A (p.Val697Met)
NM_000501.4(ELN):c.2162G>A (p.Arg721Gln)
NM_000501.4(ELN):c.263C>T (p.Pro88Leu)
NM_000501.4(ELN):c.592C>T (p.Pro198Ser)
NM_000501.4(ELN):c.74G>A (p.Arg25Gln)
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.823C>T (p.Pro275Ser)

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