List of variants in gene ELN reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.133G>A (p.Gly45Arg)	rs2131152526
NM_000501.4(ELN):c.1539del (p.Gly514fs)
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.377-2A>G
NM_000501.4(ELN):c.469+1G>A
NM_000501.4(ELN):c.572-1G>A	rs2131602837
NM_000501.4(ELN):c.643+1G>A	rs1131691482
NM_000501.4(ELN):c.889+1G>A	rs782238674

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