ClinVar Miner

List of variants in gene EYS reported as uncertain significance by Blueprint Genetics

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572 0.00213
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00132
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) rs145274061 0.00118
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770 0.00108
NM_001142800.2(EYS):c.748+6A>T rs373742788 0.00096
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_001142800.2(EYS):c.2024-15T>C rs561166342 0.00046
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser) rs370950723 0.00042
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg) rs369966951 0.00029
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val) rs749101387 0.00019
NM_001142800.2(EYS):c.1766+2645G>A rs369906234 0.00017
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln) rs368698537 0.00006
NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys) rs369347845 0.00004
NM_001142800.2(EYS):c.6874A>C (p.Asn2292His) rs906094515 0.00004
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly) rs727503922 0.00003
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.491G>A (p.Arg164Gln) rs755752918 0.00001
NM_001142800.2(EYS):c.7568G>A (p.Gly2523Asp) rs1266932220 0.00001
NM_001142800.2(EYS):c.7721A>C (p.Gln2574Pro) rs1353713143 0.00001
NM_001142800.2(EYS):c.8120T>G (p.Met2707Arg) rs757841530 0.00001
NM_001142800.2(EYS):c.8151G>A (p.Lys2717=) rs983603381 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.-453G>T rs1769909552
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2024-13del rs761134985
NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys) rs1768029780
NM_001142800.2(EYS):c.3071A>G (p.Asn1024Ser) rs1764937585
NM_001142800.2(EYS):c.334G>C (p.Val112Leu) rs112609906
NM_001142800.2(EYS):c.5116C>G (p.Gln1706Glu) rs1221943541
NM_001142800.2(EYS):c.5810T>G (p.Leu1937Trp) rs1774852530
NM_001142800.2(EYS):c.7748G>A (p.Arg2583His) rs564020009
NM_001142800.2(EYS):c.8035T>C (p.Cys2679Arg) rs1064797324
NM_001142800.2(EYS):c.8122_8125delinsG (p.Ser2708_Phe2709delinsVal) rs961817248

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