List of variants in gene ELN reported as pathogenic for cutis laxa, autosomal dominant 1

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: 7

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HGVS	dbSNP	gnomAD frequency
ELN, 1-BP DEL, 2159C
ELN, 25-BP DEL, NT2114
ELN, EX9-33DUP
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)	rs137854453
NM_000501.4(ELN):c.1946del (p.Gly649fs)	rs1797225811
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.2058del (p.Gly688fs)	rs886039351

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