ClinVar Miner

List of variants in gene EYS reported as benign by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 8
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HGVS dbSNP
NM_001142800.2(EYS):c.1300-3C>T rs1936439
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457

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