ClinVar Miner

List of variants in gene EYS reported as likely benign by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Gene type:
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Total variants: 6
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HGVS dbSNP
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.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256

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