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: 11
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NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1358-198G>A rs192461213
NM_000501.4(ELN):c.1358-199G>A rs781963901
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
NM_000501.4(ELN):c.1879G>A (p.Ala627Thr) rs552662894
NM_000501.4(ELN):c.232+3G>A rs377172364
NM_000501.4(ELN):c.280G>C (p.Gly94Arg) rs1554669275
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
NM_000501.4(ELN):c.476G>A (p.Arg159Gln) rs369045063
NM_000501.4(ELN):c.84G>A (p.Gly28=) rs782193520
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888

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