ClinVar Miner

List of variants in gene ELN reported as pathogenic by Invitae

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Total variants: 32
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HGVS dbSNP
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000007.14:g.(?_74028168)_(74028289_?)del
NC_000007.14:g.(?_74028178)_(74068710_?)del
NC_000007.14:g.(?_74068637)_(74068720_?)del
NM_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter)
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1482del (p.Val495fs) rs1583959262
NM_000501.4(ELN):c.163+2T>C rs1584494326
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1817del (p.Leu606fs)
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.278del (p.Pro93fs)
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)
NM_000501.4(ELN):c.414dup (p.Gly139fs)
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.643+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.65_69dup (p.Ser24fs)
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.840_843dup (p.Val282fs)
NM_000501.4(ELN):c.869del (p.Pro290fs)
NM_000501.4(ELN):c.885del (p.Ile295fs)
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_001278939.1:c.748del

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