ClinVar Miner

List of variants in gene ELN reported as pathogenic by Invitae

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Total variants: 11
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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
NM_001278939.1(ELN):c.1227del (p.Gly410Glufs)
NM_001278939.1(ELN):c.295_296del (p.Ala99Cysfs) rs1554669297
NM_001278939.1(ELN):c.383delT (p.Val128Glyfs) rs1554669800
NM_001278939.1(ELN):c.417delG (p.Val141Cysfs) rs878854452
NM_001278939.1(ELN):c.643+1_643+2delinsAG rs1554672602
NM_001278939.1(ELN):c.690T>A (p.Tyr230Ter)
NM_001278939.1(ELN):c.800-2A>G rs727503027
NM_001278939.1(ELN):c.944A>G (p.Lys315Arg) rs1554676454

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