ClinVar Miner

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

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Gene type:
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Total variants: 44
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HGVS dbSNP
NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter)
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.1207A>T (p.Lys403Ter)
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1222del (p.Ala408fs)
NM_001142800.2(EYS):c.1784_1787del (p.Ser595fs)
NM_001142800.2(EYS):c.1871C>A (p.Ser624Ter)
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter)
NM_001142800.2(EYS):c.216del (p.Ala73fs)
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.220del (p.Val74fs)
NM_001142800.2(EYS):c.2381+1G>A
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)
NM_001142800.2(EYS):c.3549T>G (p.Tyr1183Ter)
NM_001142800.2(EYS):c.3568+1G>A
NM_001142800.2(EYS):c.3579_3580AC[1] (p.His1194fs)
NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter)
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4518del (p.Ile1507fs)
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)
NM_001142800.2(EYS):c.4993_4994delinsA (p.Cys1665fs)
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5847C>A (p.Tyr1949Ter)
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6191+2T>C
NM_001142800.2(EYS):c.6726-2973_6834+548del
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)
NM_001142800.2(EYS):c.749-1G>C
NM_001142800.2(EYS):c.7578+1G>A
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)
NM_001142800.2(EYS):c.786dup (p.His263fs)
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter) rs1197863938
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529
NM_001142800.2(EYS):c.803del (p.Gly268fs)
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.8233+1G>C
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)

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