ClinVar Miner

List of variants in gene EYS reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr) rs201059400
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275
NM_001142800.2(EYS):c.1799T>G (p.Leu600Trp) rs794727057
NM_001142800.2(EYS):c.1800G>T (p.Leu600Phe) rs794727056
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190
NM_001142800.2(EYS):c.3568+5T>C rs539477235
NM_001142800.2(EYS):c.4039T>C (p.Ser1347Pro) rs727503923
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=) rs373872866
NM_001142800.2(EYS):c.5644+5G>A rs794727412
NM_001142800.2(EYS):c.5645-8C>T rs886044616
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly) rs727503922
NM_001142800.2(EYS):c.5830T>A (p.Leu1944Ile) rs1232523835
NM_001142800.2(EYS):c.6229G>A (p.Val2077Ile) rs1214579712
NM_001142800.2(EYS):c.6475C>T (p.Pro2159Ser) rs727503921
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe)
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565
NM_001142800.2(EYS):c.8138A>G (p.His2713Arg) rs794727670
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly) rs201690244
NM_001142800.2(EYS):c.9130T>C (p.Trp3044Arg) rs1554163866

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