ClinVar Miner

List of variants in gene EYS reported as likely pathogenic for Retinal dystrophy

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Total variants: 10
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NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188

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