List of variants in gene EYS reported as benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)	rs624851	0.77065
NM_001142800.2(EYS):c.1300-3C>T	rs1936439	0.67522
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)	rs9294631	0.67363
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)	rs9342464	0.50535
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)	rs4710457	0.35152
NM_001142800.2(EYS):c.3906C>T (p.His1302=)	rs12663916	0.10887
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=)	rs12662610	0.10143
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=)	rs12663619	0.09859
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=)	rs62415825	0.09856
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val)	rs17404123	0.09852
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu)	rs12663622	0.09847
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val)	rs16895517	0.09577
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu)	rs16895519	0.00905
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)	rs111947397	0.00404
NM_001142800.2(EYS):c.359C>T (p.Thr120Met)	rs12193967

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