ClinVar Miner

List of variants in gene EYS reported as uncertain significance for Retinitis pigmentosa

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Total variants: 13
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HGVS dbSNP
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2023+5G>T
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
NM_001142800.2(EYS):c.3684+2T>A rs1562094391
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) rs1554202833
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser) rs145184183
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256

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