ClinVar Miner

List of variants in gene ELN reported as likely pathogenic for not provided

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Total variants: 11
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HGVS dbSNP
NM_000501.4(ELN):c.1001_1013del (p.Val334fs)
NM_000501.4(ELN):c.164-2A>C rs782096458
NM_000501.4(ELN):c.1859-1G>A rs863223516
NM_000501.4(ELN):c.2031C>G (p.Tyr677Ter) rs1554688700
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.618T>A (p.Tyr206Ter) rs863223513
NM_000501.4(ELN):c.643+1G>A rs1131691482
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.4(ELN):c.728_729del (p.Gly243fs) rs863223527
NM_000501.4(ELN):c.758del (p.Gln253fs)
NM_000501.4(ELN):c.889+1G>A rs782238674

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