ClinVar Miner

List of variants in gene EYS reported as uncertain significance for Retinitis Pigmentosa, Recessive

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_001142800.1(EYS):c.*412delA rs571843718
NM_001142800.1(EYS):c.*529A>C rs193035948
NM_001142800.1(EYS):c.*98A>G rs886061663
NM_001142800.1(EYS):c.-200G>A rs368932132
NM_001142800.1(EYS):c.-207A>G rs370140172
NM_001142800.1(EYS):c.-272T>C rs747914953
NM_001142800.1(EYS):c.-332-10C>T rs868706829
NM_001142800.1(EYS):c.-337T>A rs145321084
NM_001142800.1(EYS):c.-350G>A rs886061687
NM_001142800.1(EYS):c.-407C>G rs137924872
NM_001142800.1(EYS):c.-414G>A rs181146743
NM_001142800.1(EYS):c.-459C>T rs144371265
NM_001142800.1(EYS):c.-495T>C rs886061688
NM_001142800.1(EYS):c.-521C>T rs769167992
NM_001142800.1(EYS):c.-68C>T rs530118054
NM_001142800.1(EYS):c.1145A>T (p.Asn382Ile) rs144935927
NM_001142800.1(EYS):c.1184+14T>C rs182780299
NM_001142800.1(EYS):c.1218G>T (p.Glu406Asp) rs201331309
NM_001142800.1(EYS):c.1232A>G (p.His411Arg) rs886061685
NM_001142800.1(EYS):c.1460-5dupT rs771064426
NM_001142800.1(EYS):c.1899A>G (p.Gln633=) rs373197894
NM_001142800.1(EYS):c.1950G>A (p.Ala650=) rs565864295
NM_001142800.1(EYS):c.2000G>T (p.Arg667Leu) rs549456693
NM_001142800.1(EYS):c.2027C>T (p.Thr676Met) rs199944222
NM_001142800.1(EYS):c.2039T>C (p.Ile680Thr) rs376807770
NM_001142800.1(EYS):c.2260-7C>T rs532797776
NM_001142800.1(EYS):c.2287T>C (p.Trp763Arg) rs886061684
NM_001142800.1(EYS):c.2562C>T (p.Asp854=) rs188011013
NM_001142800.1(EYS):c.2613C>T (p.Asp871=) rs192059823
NM_001142800.1(EYS):c.2641+8C>A rs886061683
NM_001142800.1(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.1(EYS):c.2738+13T>C rs886061682
NM_001142800.1(EYS):c.281C>A (p.Pro94Gln) rs111947397
NM_001142800.1(EYS):c.2822G>T (p.Gly941Val) rs749101387
NM_001142800.1(EYS):c.2890G>A (p.Glu964Lys) rs886061681
NM_001142800.1(EYS):c.2975G>T (p.Cys992Phe) rs566917467
NM_001142800.1(EYS):c.2992+9A>G rs886061680
NM_001142800.1(EYS):c.3345A>G (p.Glu1115=) rs114282214
NM_001142800.1(EYS):c.334G>C (p.Val112Leu) rs112609906
NM_001142800.1(EYS):c.3352A>G (p.Ile1118Val) rs886061679
NM_001142800.1(EYS):c.3690C>T (p.Cys1230=) rs886061678
NM_001142800.1(EYS):c.3855G>T (p.Met1285Ile) rs886061677
NM_001142800.1(EYS):c.3905A>G (p.His1302Arg) rs886061676
NM_001142800.1(EYS):c.4052T>G (p.Leu1351Arg) rs759027016
NM_001142800.1(EYS):c.4093A>G (p.Lys1365Glu) rs16895519
NM_001142800.1(EYS):c.4440A>G (p.Arg1480=) rs886061675
NM_001142800.1(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.1(EYS):c.4606C>A (p.Gln1536Lys) rs557152369
NM_001142800.1(EYS):c.4607A>G (p.Gln1536Arg) rs528387472
NM_001142800.1(EYS):c.4663A>G (p.Thr1555Ala) rs886061674
NM_001142800.1(EYS):c.4864G>A (p.Ala1622Thr) rs533075374
NM_001142800.1(EYS):c.5140A>C (p.Thr1714Pro) rs201916371
NM_001142800.1(EYS):c.5409A>G (p.Ser1803=) rs886061673
NM_001142800.1(EYS):c.5474C>A (p.Thr1825Asn) rs182151153
NM_001142800.1(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.1(EYS):c.5618T>G (p.Leu1873Arg) rs750613634
NM_001142800.1(EYS):c.5644+7T>G rs539437238
NM_001142800.1(EYS):c.5883T>G (p.Thr1961=) rs779530881
NM_001142800.1(EYS):c.592T>A (p.Tyr198Asn) rs886061686
NM_001142800.1(EYS):c.6025A>G (p.Lys2009Glu) rs559078881
NM_001142800.1(EYS):c.6047G>A (p.Gly2016Asp) rs886061672
NM_001142800.1(EYS):c.6284C>T (p.Pro2095Leu) rs200374024
NM_001142800.1(EYS):c.632G>T (p.Cys211Phe) rs772707303
NM_001142800.1(EYS):c.6725+9T>C rs886061671
NM_001142800.1(EYS):c.6899G>T (p.Gly2300Val) rs531588707
NM_001142800.1(EYS):c.6934C>T (p.Leu2312Phe) rs564315274
NM_001142800.1(EYS):c.7034G>A (p.Arg2345His) rs201304559
NM_001142800.1(EYS):c.7056-15T>A rs139056492
NM_001142800.1(EYS):c.7202G>C (p.Gly2401Ala) rs886061670
NM_001142800.1(EYS):c.7261A>C (p.Thr2421Pro) rs886061669
NM_001142800.1(EYS):c.7411+11C>T rs886061668
NM_001142800.1(EYS):c.7620A>C (p.Arg2540Ser) rs886061667
NM_001142800.1(EYS):c.7737T>C (p.Thr2579=) rs191846522
NM_001142800.1(EYS):c.777G>A (p.Gln259=) rs78079047
NM_001142800.1(EYS):c.8080A>G (p.Ile2694Val) rs35504565
NM_001142800.1(EYS):c.8233+8T>G rs886061666
NM_001142800.1(EYS):c.8234-15T>A rs886061665
NM_001142800.1(EYS):c.8326G>C (p.Val2776Leu) rs886061664
NM_001142800.1(EYS):c.8789A>G (p.Asp2930Gly) rs201690244
NM_001142800.1(EYS):c.9030A>G (p.Ala3010=) rs61754905
NM_001142800.1(EYS):c.91G>A (p.Glu31Lys) rs572189652
NM_001142800.1(EYS):c.9237A>G (p.Leu3079=) rs139944387
NM_001142800.1(EYS):c.9345_9347delTGT (p.Val3116del) rs536788112

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