List of variants in gene EYS reported as pathogenic by Counsyl

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: 4

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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.6714del (p.Ile2239fs)	rs752953889	0.00003
NM_001142800.2(EYS):c.2259+1G>A	rs752736741	0.00002
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)	rs758109813

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