ClinVar Miner

List of variants in gene EYS reported as likely pathogenic by Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals

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Gene type:
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Total variants: 4
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NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350

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