ClinVar Miner

List of variants in gene EYS reported as pathogenic for Retinitis pigmentosa 25

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Total variants: 25
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HGVS dbSNP
EYS, 1-BP DEL, 6714T
NM_001142800.1(EYS):c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.1(EYS):c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.1(EYS):c.(3243+1_3244-1)_(3443+1_3444-1)dup
NM_001142800.1(EYS):c.(6424+1_6425-1)_(6571+1_6572-1)del
NM_001142800.1(EYS):c.(748+1_749-1)_(1299+1_1300-1)del
NM_001142800.1(EYS):c.2260-51191_2992+45990del
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.1161del (p.Lys387fs) rs1562154478
NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter) rs1562109990
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777
NM_001142800.2(EYS):c.2259+1G>A rs752736741
NM_001142800.2(EYS):c.2710_2726del (p.Asp904fs) rs878853253
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631
NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs) rs1562079314
NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter)
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter) rs1562263385
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070

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