ClinVar Miner

List of variants in gene EYS reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_001142800.2(EYS):c.1459+5C>T rs200387978
NM_001142800.2(EYS):c.1472A>C (p.Glu491Ala) rs759752693
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) rs199944222
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu) rs1554217626
NM_001142800.2(EYS):c.2511C>T (p.Cys837=) rs999155902
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823
NM_001142800.2(EYS):c.3081C>T (p.Thr1027=) rs1554207086
NM_001142800.2(EYS):c.3164+8T>C rs1385606496
NM_001142800.2(EYS):c.3958G>A (p.Glu1320Lys) rs1554183636
NM_001142800.2(EYS):c.4519A>G (p.Ile1507Val) rs1373400697
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.5194C>G (p.His1732Asp) rs1554183468
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024
NM_001142800.2(EYS):c.7124G>T (p.Cys2375Phe) rs1554182987
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys) rs566843175
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser) rs557892188
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly) rs1064797324
NM_001142800.2(EYS):c.8674G>A (p.Val2892Ile) rs1326290203
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256

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