ClinVar Miner

List of variants in gene EYS reported as pathogenic by Human Genetics - Radboudumc,Radboudumc

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Total variants: 13
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HGVS dbSNP
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.[3906C>A;9405T>A]
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)
NM_001142800.2(EYS):c.1161del (p.Lys387fs) rs1562154478
NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter) rs1562109990
NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs) rs1562079314
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066

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