List of variants in gene EYS reported as pathogenic by Ocular Genomics Institute, Massachusetts Eye and Ear

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.3443+1G>T	rs373441420	0.00022
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	rs398123575	0.00004
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	rs752953889	0.00003
NM_001142800.2(EYS):c.7228+1G>A	rs758899480	0.00003
NM_001142800.2(EYS):c.2259+1G>A	rs752736741	0.00002
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)	rs1471994744	0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)	rs371032798	0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)	rs878853349	0.00001
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer)	rs1064796020	0.00001
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter)	rs1769936722
NM_001142800.2(EYS):c.2461G>T (p.Gly821Ter)	rs2150076887
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	rs761238771
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	rs750840208
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)	rs886044304
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)	rs527236065
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)	rs758109813
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	rs751629543

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