ClinVar Miner

List of variants in gene ELN reported as likely pathogenic

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Total variants: 20
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HGVS dbSNP
NM_000501.2(ELN):c.164-2A>C rs782096458
NM_000501.2(ELN):c.1859-1G>A rs863223516
NM_000501.2(ELN):c.2031C>G (p.Tyr677Ter) rs1554688700
NM_000501.2(ELN):c.618T>A (p.Tyr206Ter) rs863223513
NM_000501.2(ELN):c.643+1G>A rs1131691482
NM_000501.2(ELN):c.728_729delGT (p.Gly243Valfs) rs863223527
NM_000501.2(ELN):c.889+1G>A rs782238674
NM_000501.3(ELN):c.1153del (p.Ala385Profs) rs727503031
NM_000501.3(ELN):c.1357+1G>T rs1554680190
NM_000501.3(ELN):c.1733delC (p.Pro578Leufs) rs727503782
NM_000501.3(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.3(ELN):c.2160delC (p.Arg721Glyfs) rs794729201
NM_000501.3(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.3(ELN):c.741del (p.Thr248Glnfs) rs727503026
NM_001278939.1(ELN):c.1001_1013del (p.Val334Glufs)
NM_001278939.1(ELN):c.1150+1G>A rs727503030
NM_001278939.1(ELN):c.295_296del (p.Ala99Cysfs) rs1554669297
NM_001278939.1(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_001278939.1(ELN):c.470-37_470del
NM_001278939.1(ELN):c.758del (p.Gln253Argfs)

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