ClinVar Miner

List of variants in gene EYS reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189 0.00001
NM_001142800.2(EYS):c.634C>T (p.Gln212Ter) rs371915861 0.00001
NM_001142800.2(EYS):c.7943del (p.Thr2648fs) rs1477705832 0.00001
NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)
NM_001142800.2(EYS):c.1603del (p.Cys535fs) rs2150313808
NM_001142800.2(EYS):c.2854del (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.5098A>T (p.Lys1700Ter)
NM_001142800.2(EYS):c.5666del (p.Tyr1889fs)
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter) rs1769471082
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001142800.2(EYS):c.7723+1G>A rs1770412895

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