List of variants in gene EYS reported as likely pathogenic by Genetics and Molecular Pathology, SA Pathology

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00064
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)

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