ClinVar Miner

List of variants in gene EYS reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066 0.00001
NM_001142800.1(EYS):c.(6424+1_6425-1)_(6571+1_6572-1)del
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter) rs749410700
NM_001142800.2(EYS):c.1161del (p.Lys387fs) rs1562154478
NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter) rs1562109990
NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter) rs992863438
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) rs2149856749
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.454dup (p.Met152fs) rs1766191833
NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs) rs1562079314

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