ClinVar Miner

List of variants in gene ELN reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_000501.2(ELN):c.1358-198G>A rs192461213
NM_000501.3(ELN):c.476G>A (p.Arg159Gln) rs369045063
NM_000501.3(ELN):c.930C>T (p.Ala310=) rs147367888
NM_001278939.1(ELN):c.1762G>A (p.Val588Ile) rs560081099

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