ClinVar Miner

List of variants in gene ELN reported as pathogenic by OMIM

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Total variants: 20
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HGVS dbSNP
ELN, 1-BP DEL, 1821C
ELN, 1-BP DEL, 2012G
ELN, 1-BP DEL, 2039C
ELN, 1-BP DEL, 2159C
ELN, 1-BP DEL, 748A
ELN, 1-BP INS, FS615TER
ELN, 100-KB DEL
ELN, 1621C-T
ELN, 25-BP DEL, NT2114
ELN, 30-KB DEL
ELN, ARG610GLN AND 24-BP DUP, NT1034
ELN, EX9-33DUP
ELN, IVS15AS, A-G, -2
NM_000501.4(ELN):c.1040del (p.Pro347fs) rs1563826213
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1858+5G>C rs1554686162
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.526A>T (p.Lys176Ter) rs137854455
NM_000501.4(ELN):c.800-3C>G rs397516433

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