ClinVar Miner

List of variants in gene ELN reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344 0.00008
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg) rs34852121 0.00004
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser) rs374253638 0.00001
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.469+5G>C rs727503025
NM_000501.4(ELN):c.685+1_685+5dup rs876657806

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