ClinVar Miner

List of variants in gene EYS reported by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 15
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HGVS dbSNP
NM_001142800.1(EYS):c.6079-4_6079-3delTC rs35395170
NM_001142800.2(EYS):c.1300-3C>T rs1936439
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256

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