ClinVar Miner

List of variants in gene EYS reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823 0.00284
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val) rs148019592 0.00165
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024 0.00081
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) rs201304559 0.00055
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) rs199944222 0.00021
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser) rs557892188 0.00019
NM_001142800.2(EYS):c.4559C>G (p.Ala1520Gly) rs751565795 0.00011
NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala) rs759642068 0.00011
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001142800.2(EYS):c.3164+8T>C rs1385606496 0.00003
NM_001142800.2(EYS):c.1381T>A (p.Cys461Ser) rs1471424153 0.00001
NM_001142800.2(EYS):c.2511C>T (p.Cys837=) rs999155902 0.00001
NM_001142800.2(EYS):c.3081C>T (p.Thr1027=) rs1554207086 0.00001
NM_001142800.2(EYS):c.4519A>G (p.Ile1507Val) rs1373400697 0.00001
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys) rs566843175 0.00001
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly) rs1064797324 0.00001
NM_001142800.2(EYS):c.1472A>C (p.Glu491Ala) rs759752693
NM_001142800.2(EYS):c.1478G>A (p.Cys493Tyr) rs1770307692
NM_001142800.2(EYS):c.1945T>C (p.Ser649Pro) rs1768650310
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu) rs1554217626
NM_001142800.2(EYS):c.3353T>C (p.Ile1118Thr) rs1412311460
NM_001142800.2(EYS):c.3958G>A (p.Glu1320Lys) rs1554183636
NM_001142800.2(EYS):c.5194C>G (p.His1732Asp) rs1554183468
NM_001142800.2(EYS):c.5576C>A (p.Pro1859His)
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.7124G>T (p.Cys2375Phe) rs1554182987

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