List of variants in gene EYS reported as likely pathogenic by Department of Ophthalmology and Visual Sciences Kyoto University

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)	rs527236076	0.00001
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter)	rs527236077
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)	rs527236072
NM_001142800.2(EYS):c.4387del (p.Arg1463fs)	rs527236075
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs)	rs527236073
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter)	rs527236074
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs)	rs527236071
NM_001142800.2(EYS):c.7048del (p.Cys2350fs)	rs527236069
NM_001142800.2(EYS):c.7694del (p.Asn2565fs)	rs527236078

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