ClinVar Miner

List of variants studied for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 808
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HGVS dbSNP
GUCY2D, 1-BP DEL, 2943G
NC_000004.12:g.154744366G>T
NC_000017.10:g.(?_7906220)_(7919868_?)del
NM_000180.3(GUCY2D):c.1040_1041delTT (p.Phe347Trpfs) rs763890649
NM_000180.3(GUCY2D):c.1119G>A (p.Val373=) rs56034424
NM_000180.3(GUCY2D):c.1433_1442dup (p.Phe482Glyfs)
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.1561C>T (p.Arg521Ter)
NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.3(GUCY2D):c.1956+2T>A rs61749758
NM_000180.3(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.3(GUCY2D):c.2234del (p.Pro745Leufs)
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln)
NM_000180.3(GUCY2D):c.2377delG (p.Glu793Asnfs) rs1555635668
NM_000180.3(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.3(GUCY2D):c.2577G>T (p.Pro859=) rs112372281
NM_000180.3(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670
NM_000180.3(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.3(GUCY2D):c.2766C>G (p.Tyr922Ter)
NM_000180.3(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.3(GUCY2D):c.3044-7G>T rs56348143
NM_000180.3(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034Valfs) rs1555635925
NM_000180.3(GUCY2D):c.3224+1G>C
NM_000180.3(GUCY2D):c.3225-7C>T rs79887212
NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs) rs386834239
NM_000180.3(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3(GUCY2D):c.620delC (p.Arg208Glyfs) rs61749671
NM_000180.3(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610
NM_000180.3(GUCY2D):c.914del (p.His305Profs)
NM_000180.3:c.1391del rs1567958644
NM_000180.3:c.1633C>T
NM_000180.3:c.2431G>A
NM_000180.3:c.752T>C
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.*511G>A rs149449684
NM_000329.3(RPE65):c.*517G>A rs574708413
NM_000329.3(RPE65):c.*531A>G rs3118418
NM_000329.3(RPE65):c.*588C>A rs541546843
NM_000329.3(RPE65):c.*611G>A rs2182315
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.*760A>C rs886046508
NM_000329.3(RPE65):c.*915C>G rs3118416
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1386G>A (p.Glu462=) rs886046509
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) rs372620785
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) rs886046510
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000440.3(PDE6A):c.2027+5G>T rs794727166
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000554.5(CRX):c.-116T>C rs10418215
NM_000554.6(CRX):c.*1046C>T rs62128808
NM_000554.6(CRX):c.*1063C>T rs143939023
NM_000554.6(CRX):c.*1122G>C rs73576710
NM_000554.6(CRX):c.*1148G>C rs139073763
NM_000554.6(CRX):c.*1149G>A rs886054555
NM_000554.6(CRX):c.*118C>A rs543729483
NM_000554.6(CRX):c.*1220G>A rs58323327
NM_000554.6(CRX):c.*1289G>A rs62128809
NM_000554.6(CRX):c.*1309T>C rs886054556
NM_000554.6(CRX):c.*132G>A rs886054548
NM_000554.6(CRX):c.*1346G>A rs12462534
NM_000554.6(CRX):c.*1455T>A rs10418834
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*1654dup rs138321430
NM_000554.6(CRX):c.*1671G>A rs550538685
NM_000554.6(CRX):c.*1759G>T rs886054558
NM_000554.6(CRX):c.*1792C>T rs56226622
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*1917G>A rs557773336
NM_000554.6(CRX):c.*1961G>A rs117186518
NM_000554.6(CRX):c.*19C>T rs79186398
NM_000554.6(CRX):c.*2017C>T rs73038753
NM_000554.6(CRX):c.*2039C>T rs189556251
NM_000554.6(CRX):c.*2106C>T rs12982537
NM_000554.6(CRX):c.*2113A>G rs555800382
NM_000554.6(CRX):c.*2137G>A rs181823708
NM_000554.6(CRX):c.*2155G>A rs113560570
NM_000554.6(CRX):c.*2171C>T rs77875912
NM_000554.6(CRX):c.*2183T>C rs7259671
NM_000554.6(CRX):c.*2299C>T rs73038757
NM_000554.6(CRX):c.*234G>A rs754333326
NM_000554.6(CRX):c.*2375G>A rs188212480
NM_000554.6(CRX):c.*2380C>T rs62128810
NM_000554.6(CRX):c.*2396C>T rs374128749
NM_000554.6(CRX):c.*2485C>T rs564202140
NM_000554.6(CRX):c.*252C>T rs886054549
NM_000554.6(CRX):c.*2539C>T rs146417527
NM_000554.6(CRX):c.*2559G>C rs12463238
NM_000554.6(CRX):c.*2573C>T rs886054559
NM_000554.6(CRX):c.*2602C>T rs562310108
NM_000554.6(CRX):c.*2704C>T rs12974951
NM_000554.6(CRX):c.*2717G>T rs11666203
NM_000554.6(CRX):c.*2739G>A rs149039830
NM_000554.6(CRX):c.*2758C>A rs117717088
NM_000554.6(CRX):c.*2785C>T rs886054560
NM_000554.6(CRX):c.*2821G>A rs571610746
NM_000554.6(CRX):c.*2850G>A rs769789306
NM_000554.6(CRX):c.*2880T>C rs142202442
NM_000554.6(CRX):c.*2889G>A rs886054561
NM_000554.6(CRX):c.*2937T>C rs7248427
NM_000554.6(CRX):c.*2952G>A rs886054562
NM_000554.6(CRX):c.*3017C>T rs11666244
NM_000554.6(CRX):c.*308_*310AAG[2] rs398059782
NM_000554.6(CRX):c.*3238G>A rs4081725
NM_000554.6(CRX):c.*3279C>T rs11666316
NM_000554.6(CRX):c.*3285C>G rs62128811
NM_000554.6(CRX):c.*3301T>C rs11670620
NM_000554.6(CRX):c.*392G>A rs886054550
NM_000554.6(CRX):c.*400A>T rs3848536
NM_000554.6(CRX):c.*401A>C rs3848537
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*436G>T rs759530877
NM_000554.6(CRX):c.*527C>T rs371749408
NM_000554.6(CRX):c.*579T>C rs4356586
NM_000554.6(CRX):c.*591G>C rs3859430
NM_000554.6(CRX):c.*595C>T rs111448395
NM_000554.6(CRX):c.*679G>A rs112202398
NM_000554.6(CRX):c.*682C>T rs3859431
NM_000554.6(CRX):c.*683G>A rs867379668
NM_000554.6(CRX):c.*6G>A rs375770558
NM_000554.6(CRX):c.*746T>C rs886054552
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756T>A rs886054553
NM_000554.6(CRX):c.*756dup rs60558029
NM_000554.6(CRX):c.*767G>A rs544037698
NM_000554.6(CRX):c.*769G>A rs55835533
NM_000554.6(CRX):c.*809C>G rs574128797
NM_000554.6(CRX):c.*839C>T rs541379131
NM_000554.6(CRX):c.*860C>T rs185098538
NM_000554.6(CRX):c.*907C>T rs559582292
NM_000554.6(CRX):c.*908G>A rs886054554
NM_000554.6(CRX):c.*966G>C rs3933489
NM_000554.6(CRX):c.*972C>G rs12462416
NM_000554.6(CRX):c.*996C>G rs550939154
NM_000554.6(CRX):c.-39G>C rs531267959
NM_000554.6(CRX):c.-55C>T rs886054543
NM_000554.6(CRX):c.100+12C>T rs62128766
NM_000554.6(CRX):c.101-12A>G rs73941294
NM_000554.6(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.6(CRX):c.253-15G>A rs145805694
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_000554.6(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.6(CRX):c.78G>A (p.Met26Ile) rs886054544
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) rs886054547
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214
NM_000883.4(IMPDH1):c.*105T>A rs886061983
NM_000883.4(IMPDH1):c.*202C>T rs886061982
NM_000883.4(IMPDH1):c.*223C>G rs543042380
NM_000883.4(IMPDH1):c.*228G>A rs72624976
NM_000883.4(IMPDH1):c.*231C>G rs1042267
NM_000883.4(IMPDH1):c.*256T>C rs752294619
NM_000883.4(IMPDH1):c.*258C>T rs886061981
NM_000883.4(IMPDH1):c.*259G>A rs535964010
NM_000883.4(IMPDH1):c.*321G>A rs571536404
NM_000883.4(IMPDH1):c.*321G>T rs571536404
NM_000883.4(IMPDH1):c.*597G>A rs1803821
NM_000883.4(IMPDH1):c.*631C>T rs760544024
NM_000883.4(IMPDH1):c.*634C>T rs1803822
NM_000883.4(IMPDH1):c.*722C>T rs886061980
NM_000883.4(IMPDH1):c.-59G>A rs886061985
NM_000883.4(IMPDH1):c.-69T>G rs72624936
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) rs199623010
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) rs780213373
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030
NM_000883.4(IMPDH1):c.146+9C>T rs749118285
NM_000883.4(IMPDH1):c.1575G>A (p.Ala525=) rs2228075
NM_000883.4(IMPDH1):c.1653C>T (p.His551=) rs147882304
NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile) rs886061984
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) rs201071873
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) rs144659635
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) rs72624957
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His)
NM_000883.4(IMPDH1):c.987G>C (p.Leu329=) rs2288550
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001009894.3(C12orf29):c.*743_*746del rs142288119
NM_001009894.3(C12orf29):c.*827G>A rs754398792
NM_001009894.3(C12orf29):c.*837T>C rs765709669
NM_001009894.3(C12orf29):c.*926C>T rs200178519
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) rs1553722736
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001077182.3(FSCN2):c.72del (p.Thr25fs) rs376633374
NM_001080442.2(SLC38A8):c.388+5G>A rs760391436
NM_001122769.3(LCA5):c.*1044A>C rs1057174
NM_001122769.3(LCA5):c.*1113G>A rs886061787
NM_001122769.3(LCA5):c.*1137G>T rs528853254
NM_001122769.3(LCA5):c.*1300G>A rs16890805
NM_001122769.3(LCA5):c.*1316C>T rs552095479
NM_001122769.3(LCA5):c.*1528G>A rs41269343
NM_001122769.3(LCA5):c.*1543T>C rs886061786
NM_001122769.3(LCA5):c.*1559T>C rs886061785
NM_001122769.3(LCA5):c.*1573A>G rs140103894
NM_001122769.3(LCA5):c.*1577T>G rs184100878
NM_001122769.3(LCA5):c.*1680C>A rs886061784
NM_001122769.3(LCA5):c.*1752G>A rs1394281
NM_001122769.3(LCA5):c.*223A>G rs2292109
NM_001122769.3(LCA5):c.*22dup rs767286706
NM_001122769.3(LCA5):c.*35del rs747368961
NM_001122769.3(LCA5):c.*473T>C rs528150967
NM_001122769.3(LCA5):c.*634A>C rs577878179
NM_001122769.3(LCA5):c.*640T>C rs45499200
NM_001122769.3(LCA5):c.*815A>C rs886061788
NM_001122769.3(LCA5):c.*842A>G rs746828530
NM_001122769.3(LCA5):c.*874A>G rs149782333
NM_001122769.3(LCA5):c.*875A>G rs180766217
NM_001122769.3(LCA5):c.*903A>G rs150693125
NM_001122769.3(LCA5):c.-192+62T>G rs9343917
NM_001122769.3(LCA5):c.-200G>A rs886061792
NM_001122769.3(LCA5):c.-251G>A rs886061793
NM_001122769.3(LCA5):c.-264A>C rs558234494
NM_001122769.3(LCA5):c.-304A>T rs886061794
NM_001122769.3(LCA5):c.-348C>T rs74442236
NM_001122769.3(LCA5):c.-398G>C rs370115829
NM_001122769.3(LCA5):c.-39T>C rs886061791
NM_001122769.3(LCA5):c.-414C>T rs538864087
NM_001122769.3(LCA5):c.-424C>G rs886061795
NM_001122769.3(LCA5):c.-429G>A rs541304321
NM_001122769.3(LCA5):c.-62A>G rs2803195
NM_001122769.3(LCA5):c.1049C>T (p.Thr350Ile) rs375310752
NM_001122769.3(LCA5):c.1080A>G (p.Glu360=) rs779447463
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021
NM_001122769.3(LCA5):c.1099-12A>G rs192066914
NM_001122769.3(LCA5):c.1138G>A (p.Gly380Arg) rs201814494
NM_001122769.3(LCA5):c.1181C>G (p.Thr394Arg) rs369178808
NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile) rs141821682
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=) rs141642284
NM_001122769.3(LCA5):c.1497A>G (p.Leu499=) rs199557499
NM_001122769.3(LCA5):c.1533C>A (p.Phe511Leu) rs570251479
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=) rs183011135
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001122769.3(LCA5):c.191-3T>A rs886061790
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845
NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met) rs371733166
NM_001122769.3(LCA5):c.2028C>T (p.Asp676=) rs768387283
NM_001122769.3(LCA5):c.211A>G (p.Lys71Glu) rs886061789
NM_001122769.3(LCA5):c.281G>A (p.Arg94Gln) rs34531407
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr) rs200395970
NM_001122769.3(LCA5):c.586C>T (p.Leu196=) rs114426854
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655
NM_001122769.3(LCA5):c.77A>C (p.Asp26Ala) rs34068461
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001122769.3(LCA5):c.859-12G>C rs115317386
NM_001134831.2(AHI1):c.1912+5G>T rs1554347012
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) rs886037840
NM_001257965.2(CRB1):c.-212-34222G>A rs886045782
NM_001257965.2(CRB1):c.-212-34231C>T rs544047392
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025
NM_002242.4(KCNJ13):c.*102T>G rs886055795
NM_002242.4(KCNJ13):c.*1088T>C rs768069588
NM_002242.4(KCNJ13):c.*1201C>T rs116740510
NM_002242.4(KCNJ13):c.*121A>G rs147795007
NM_002242.4(KCNJ13):c.*135A>G rs8192539
NM_002242.4(KCNJ13):c.*1482_*1484del rs774385692
NM_002242.4(KCNJ13):c.*1500G>A rs543305193
NM_002242.4(KCNJ13):c.*1742dup rs746052279
NM_002242.4(KCNJ13):c.*1758T>A rs886055792
NM_002242.4(KCNJ13):c.*179_*180CT[1] rs758195599
NM_002242.4(KCNJ13):c.*1804G>A rs886055791
NM_002242.4(KCNJ13):c.*1839A>G rs34063802
NM_002242.4(KCNJ13):c.*1867T>C rs144253492
NM_002242.4(KCNJ13):c.*1881T>A rs369335960
NM_002242.4(KCNJ13):c.*2324C>T rs74547374
NM_002242.4(KCNJ13):c.*256G>A rs568320995
NM_002242.4(KCNJ13):c.*290T>C rs191388517
NM_002242.4(KCNJ13):c.*342A>G rs886055794
NM_002242.4(KCNJ13):c.*371T>C rs539079150
NM_002242.4(KCNJ13):c.*619C>T rs114432797
NM_002242.4(KCNJ13):c.*692T>C rs150909352
NM_002242.4(KCNJ13):c.*761C>T rs41265971
NM_002242.4(KCNJ13):c.*94A>C rs570138880
NM_002242.4(KCNJ13):c.*957A>G rs886055793
NM_002242.4(KCNJ13):c.-110A>T rs374864322
NM_002242.4(KCNJ13):c.-72_-71delCT rs5839447
NM_002242.4(KCNJ13):c.-73T>C rs886055798
NM_002242.4(KCNJ13):c.-74C>T rs755592443
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_002242.4(KCNJ13):c.474G>A (p.Ala158=) rs769501717
NM_002242.4(KCNJ13):c.524C>T (p.Thr175Ile) rs1801251
NM_002242.4(KCNJ13):c.548G>A (p.Gly183Asp) rs886055797
NM_002242.4(KCNJ13):c.621A>G (p.Val207=) rs886055796
NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn) rs146797648
NM_002335.4(LRP5):c.1697G>A (p.Arg566His) rs587783024
NM_002899.5(RBP1):c.387_400del (p.Lys131fs) rs587783020
NM_003322.6(TULP1):c.*268C>A rs114707578
NM_003322.6(TULP1):c.*273del rs112061946
NM_003322.6(TULP1):c.*278C>T rs886061335
NM_003322.6(TULP1):c.*305G>A rs149035389
NM_003322.6(TULP1):c.*318T>G rs1051952
NM_003322.6(TULP1):c.*31C>T rs886061336
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562
NM_003322.6(TULP1):c.1362G>A (p.Thr454=) rs41270076
NM_003322.6(TULP1):c.192T>C (p.Ala64=) rs886061337
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) rs7764472
NM_003322.6(TULP1):c.249G>A (p.Ala83=) rs377105125
NM_003322.6(TULP1):c.254A>G (p.Gln85Arg) rs754040672
NM_003322.6(TULP1):c.26G>A (p.Arg9Gln) rs886061338
NM_003322.6(TULP1):c.477G>C (p.Arg159Ser) rs749882966
NM_003322.6(TULP1):c.499+12G>C rs185636479
NM_003322.6(TULP1):c.524dup (p.Pro176fs) rs1327062642
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) rs142641513
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) rs748334290
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318
NM_003322.6(TULP1):c.823-8G>A rs372183095
NM_003322.6(TULP1):c.846G>A (p.Pro282=) rs149980694
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) rs148838796
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) rs140460892
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449
NM_004744.5(LRAT):c.*106T>C rs189439579
NM_004744.5(LRAT):c.*1155T>A rs72683214
NM_004744.5(LRAT):c.*1281C>A rs572110901
NM_004744.5(LRAT):c.*1338T>G rs12507608
NM_004744.5(LRAT):c.*1585T>G rs886059168
NM_004744.5(LRAT):c.*1867C>T rs78441257
NM_004744.5(LRAT):c.*2190C>T rs886059169
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
NM_004744.5(LRAT):c.*2310A>T rs368622887
NM_004744.5(LRAT):c.*2396C>G rs867110135
NM_004744.5(LRAT):c.*2418G>A rs886059170
NM_004744.5(LRAT):c.*2453C>A rs886059171
NM_004744.5(LRAT):c.*2463T>C rs530211304
NM_004744.5(LRAT):c.*2467C>G rs886059172
NM_004744.5(LRAT):c.*2477_*2479del rs769393659
NM_004744.5(LRAT):c.*2529C>T rs185391295
NM_004744.5(LRAT):c.*2625A>G rs77071498
NM_004744.5(LRAT):c.*2670G>T rs17032000
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871
NM_004744.5(LRAT):c.*2968C>G rs886059175
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*3264G>A rs115053323
NM_004744.5(LRAT):c.*329T>C rs886059164
NM_004744.5(LRAT):c.*3435A>C rs886059176
NM_004744.5(LRAT):c.*3459dup rs369562633
NM_004744.5(LRAT):c.*3618G>A rs17032002
NM_004744.5(LRAT):c.*3654T>C rs191784588
NM_004744.5(LRAT):c.*3712G>C rs144961748
NM_004744.5(LRAT):c.*3729del rs886059177
NM_004744.5(LRAT):c.*3770A>G rs886059178
NM_004744.5(LRAT):c.*3819T>C rs191600425
NM_004744.5(LRAT):c.*3958G>A rs886059179
NM_004744.5(LRAT):c.*3978C>T rs886059180
NM_004744.5(LRAT):c.*3980T>C rs191125324
NM_004744.5(LRAT):c.*3T>G rs200942685
NM_004744.5(LRAT):c.*549T>C rs886059165
NM_004744.5(LRAT):c.*632T>C rs886059166
NM_004744.5(LRAT):c.*640T>C rs574458445
NM_004744.5(LRAT):c.*671A>G rs886059167
NM_004744.5(LRAT):c.*817A>G rs78274322
NM_004744.5(LRAT):c.*826C>T rs778612442
NM_004744.5(LRAT):c.*98C>T rs529360609
NM_004744.5(LRAT):c.-115C>G rs886059159
NM_004744.5(LRAT):c.-2+7A>C rs886059161
NM_004744.5(LRAT):c.-84C>T rs886059160
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916
NM_004744.5(LRAT):c.244A>G (p.Thr82Ala) rs747900628
NM_004744.5(LRAT):c.258G>A (p.Gly86=) rs768389044
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) rs1554519422
NM_006915.3(RP2):c.102+3A>C rs1556313557
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_014336.4(AIPL1):c.-106C>A rs7211442
NM_014336.4(AIPL1):c.-107C>G rs149098937
NM_014336.4(AIPL1):c.-21A>G rs373772674
NM_014336.4(AIPL1):c.-52G>T rs377376064
NM_014336.4(AIPL1):c.-73A>G rs751249166
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.*1007C>T rs111456528
NM_014336.5(AIPL1):c.*1009A>G rs4577135
NM_014336.5(AIPL1):c.*1017C>T rs868498336
NM_014336.5(AIPL1):c.*1018G>A rs2871287
NM_014336.5(AIPL1):c.*1165C>T rs528789571
NM_014336.5(AIPL1):c.*1178C>T rs149460055
NM_014336.5(AIPL1):c.*1202C>T rs907937
NM_014336.5(AIPL1):c.*1229C>T rs907938
NM_014336.5(AIPL1):c.*1237C>T rs139074266
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*1335A>C rs886053260
NM_014336.5(AIPL1):c.*134G>T rs2090068
NM_014336.5(AIPL1):c.*1391C>T rs907939
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*1444G>A rs886053258
NM_014336.5(AIPL1):c.*1455G>T rs886053257
NM_014336.5(AIPL1):c.*1459G>T rs886053256
NM_014336.5(AIPL1):c.*147A>C rs886053267
NM_014336.5(AIPL1):c.*150A>C rs886053266
NM_014336.5(AIPL1):c.*150_*151insCAA rs200523461
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_014336.5(AIPL1):c.*151_*152dup rs77115868
NM_014336.5(AIPL1):c.*1534G>A rs780946014
NM_014336.5(AIPL1):c.*1537C>A rs886053255
NM_014336.5(AIPL1):c.*153_*154del rs886053263
NM_014336.5(AIPL1):c.*153_*155del rs886053262
NM_014336.5(AIPL1):c.*153del rs886053264
NM_014336.5(AIPL1):c.*1550A>C rs181055698
NM_014336.5(AIPL1):c.*1568G>A rs11869066
NM_014336.5(AIPL1):c.*1658T>C rs78526307
NM_014336.5(AIPL1):c.*1679G>C rs886053254
NM_014336.5(AIPL1):c.*188G>A rs1317185
NM_014336.5(AIPL1):c.*221G>A rs112307858
NM_014336.5(AIPL1):c.*23C>G rs369568105
NM_014336.5(AIPL1):c.*280G>A rs886053261
NM_014336.5(AIPL1):c.*33A>C rs140472462
NM_014336.5(AIPL1):c.*390G>T rs182504714
NM_014336.5(AIPL1):c.*53C>T rs151279098
NM_014336.5(AIPL1):c.*606G>A rs10852881
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*748C>T rs543789961
NM_014336.5(AIPL1):c.*753G>A rs62060993
NM_014336.5(AIPL1):c.*824G>C rs145706166
NM_014336.5(AIPL1):c.*887_*891CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.-17C>A rs188246267
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.5(AIPL1):c.277-10A>C rs12453262
NM_014336.5(AIPL1):c.277-14G>A rs117749485
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) rs144579083
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978
NM_014336.5(AIPL1):c.389A>G (p.His130Arg) rs750182458
NM_014336.5(AIPL1):c.414C>T (p.Asp138=) rs565896898
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) rs772911646
NM_014336.5(AIPL1):c.639C>T (p.Thr213=) rs371485219
NM_014336.5(AIPL1):c.642+14G>A rs188779461
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546
NM_014336.5(AIPL1):c.730_732GAG[1] (p.Glu245del)
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr) rs886053268
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845
NM_014336.5(AIPL1):c.785-11G>A rs199772097
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014336.5(AIPL1):c.97-15C>T rs190887679
NM_014336.5(AIPL1):c.97-9G>A rs140124986
NM_014989.5(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro)
NM_018418.5(SPATA7):c.-111G>A rs886050871
NM_018418.5(SPATA7):c.-112A>C rs550675797
NM_018418.5(SPATA7):c.-32G>T rs200780988
NM_018418.5(SPATA7):c.-62G>A rs886050872
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.5(SPATA7):c.1216-4C>T rs755958987
NM_018418.5(SPATA7):c.1220A>T (p.Lys407Ile) rs886050873
NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe) rs181052380
NM_018418.5(SPATA7):c.1428G>A (p.Ser476=) rs140192398
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784
NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala) rs200231959
NM_018418.5(SPATA7):c.1622T>C (p.Ile541Thr) rs139510848
NM_018418.5(SPATA7):c.1679A>C (p.Asn560Thr) rs886050874
NM_018418.5(SPATA7):c.1683A>G (p.Thr561=) rs886050875
NM_018418.5(SPATA7):c.191-14C>A rs60770744
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_018418.5(SPATA7):c.207G>A (p.Ser69=) rs142913613
NM_018418.5(SPATA7):c.220G>A (p.Val74Met) rs3179969
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272
NM_018418.5(SPATA7):c.372+11A>G rs757636745
NM_018418.5(SPATA7):c.387G>A (p.Pro129=) rs199727517
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) rs4904448
NM_018418.5(SPATA7):c.546T>C (p.Ser182=) rs17124665
NM_018418.5(SPATA7):c.57G>T (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727
NM_018418.5(SPATA7):c.913-14T>A rs185459765
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_020366.3(RPGRIP1):c.*10T>C rs80191010
NM_020366.3(RPGRIP1):c.*44T>C rs370767680
NM_020366.3(RPGRIP1):c.*81A>G rs182458550
NM_020366.3(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691
NM_020366.3(RPGRIP1):c.1077+13A>G rs886050398
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092
NM_020366.3(RPGRIP1):c.1200G>A (p.Glu400=) rs749098397
NM_020366.3(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466
NM_020366.3(RPGRIP1):c.1506C>T (p.Ser502=) rs777877901
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965
NM_020366.3(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311
NM_020366.3(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.218+13C>G rs200225522
NM_020366.3(RPGRIP1):c.2215+7G>A rs7157052
NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974
NM_020366.3(RPGRIP1):c.2331C>T (p.Thr777=) rs760801598
NM_020366.3(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter)
NM_020366.3(RPGRIP1):c.2618A>G (p.His873Arg) rs573418252
NM_020366.3(RPGRIP1):c.2700A>C (p.Glu900Asp) rs781608496
NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354
NM_020366.3(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904
NM_020366.3(RPGRIP1):c.2924T>C (p.Ile975Thr) rs886050399
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.3055A>T (p.Met1019Leu) rs886050400
NM_020366.3(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074
NM_020366.3(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361
NM_020366.3(RPGRIP1):c.310G>C (p.Gly104Arg) rs377018856
NM_020366.3(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.3340-15C>T rs28664100
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020366.3(RPGRIP1):c.3748+17dup rs578107768
NM_020366.3(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397
NM_020366.3(RPGRIP1):c.450C>G (p.Leu150=) rs144585562
NM_020366.3(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449
NM_020366.3(RPGRIP1):c.525A>G (p.Pro175=) rs17792599
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) rs574462207
NM_020366.3(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751
NM_020366.3(RPGRIP1):c.640A>C (p.Lys214Gln) rs767213505
NM_020366.3(RPGRIP1):c.658A>G (p.Met220Val) rs371762530
NM_020366.3(RPGRIP1):c.912C>T (p.Tyr304=) rs568372341
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) rs775978677
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_025114.3(CEP290):c.-118C>G rs886049887
NM_025114.3(CEP290):c.-147A>T rs753567406
NM_025114.3(CEP290):c.-208C>T rs551070690
NM_025114.3(CEP290):c.-235T>G rs569632834
NM_025114.3(CEP290):c.-295T>C rs374616539
NM_025114.3(CEP290):c.-33G>T rs139415563
NM_025114.3(CEP290):c.-38G>C rs886049886
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.-96C>T rs528270888
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1345A>G (p.Lys449Glu) rs747463477
NM_025114.3(CEP290):c.1359G>A (p.Ser453=) rs779195306
NM_025114.3(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.3(CEP290):c.1623+10G>A rs377529198
NM_025114.3(CEP290):c.1623+10G>T rs377529198
NM_025114.3(CEP290):c.1623+5G>A rs1555222073
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.3(CEP290):c.1910-11T>G rs1555220638
NM_025114.3(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2217+3G>A rs765291878
NM_025114.3(CEP290):c.2447G>A (p.Arg816His) rs768448895
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.2861A>G (p.Asp954Gly) rs886049882
NM_025114.3(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.3(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620
NM_025114.3(CEP290):c.3309+3_3309+4dupTT rs886049881
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3574-15T>A rs565414938
NM_025114.3(CEP290):c.3574-9delT rs10717563
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.3(CEP290):c.4064G>A (p.Arg1355His) rs548558619
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047
NM_025114.3(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.3(CEP290):c.442-11delT rs199511358
NM_025114.3(CEP290):c.442-11dupT rs199511358
NM_025114.3(CEP290):c.442-12_442-11dupTT rs199511358
NM_025114.3(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436
NM_025114.3(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.3(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5227-14delT rs747878752
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.3(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.3(CEP290):c.5587-1G>C
NM_025114.3(CEP290):c.5587-8T>C rs886049878
NM_025114.3(CEP290):c.5709+12A>G rs371010287
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.6522+12dupT rs11405846
NM_025114.3(CEP290):c.6871C>T (p.Gln2291Ter)
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.3(CEP290):c.7209+11_7209+14delATTA rs750259100
NM_025114.3(CEP290):c.7209+7T>G rs745813087
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425
NM_025114.3(CEP290):c.942+6T>G rs886049884
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro) rs587783022
NM_153638.3(PANK2):c.1283G>A (p.Cys428Tyr)
NM_183059.2(RD3):c.*1108C>T rs151010298
NM_183059.2(RD3):c.*1277G>A rs184525191
NM_183059.2(RD3):c.*1281G>A rs73072853
NM_183059.2(RD3):c.*1287T>C rs748989370
NM_183059.2(RD3):c.*1305del rs886045896
NM_183059.2(RD3):c.*1307_*1308insCT rs142577368
NM_183059.2(RD3):c.*1331G>A rs11119747
NM_183059.2(RD3):c.*1342T>G rs780834996
NM_183059.2(RD3):c.*1343G>C rs11119746
NM_183059.2(RD3):c.*1555T>C rs886045895
NM_183059.2(RD3):c.*1582del rs879756831
NM_183059.2(RD3):c.*1582dup rs879756831
NM_183059.2(RD3):c.*1583del rs775682217
NM_183059.2(RD3):c.*1634G>A rs886045893
NM_183059.2(RD3):c.*1649T>C rs12076715
NM_183059.2(RD3):c.*1652C>T rs184074454
NM_183059.2(RD3):c.*1672C>T rs544513757
NM_183059.2(RD3):c.*193G>C rs11119748
NM_183059.2(RD3):c.*1983C>T rs143085760
NM_183059.2(RD3):c.*2081C>T rs886045892
NM_183059.2(RD3):c.*2098G>A rs886045891
NM_183059.2(RD3):c.*2138T>C rs886045890
NM_183059.2(RD3):c.*2311C>T rs766209664
NM_183059.2(RD3):c.*2317G>A rs886045889
NM_183059.2(RD3):c.*2402A>G rs886045888
NM_183059.2(RD3):c.*2481A>T rs373654186
NM_183059.2(RD3):c.*2503G>T rs41309617
NM_183059.2(RD3):c.*368A>T rs1947058
NM_183059.2(RD3):c.*471C>T rs34433079
NM_183059.2(RD3):c.*527G>C rs886045899
NM_183059.2(RD3):c.*590T>C rs886045898
NM_183059.2(RD3):c.*738T>C rs886045897
NM_183059.2(RD3):c.*882C>T rs760692968
NM_183059.2(RD3):c.-1034G>A rs146780723
NM_183059.2(RD3):c.-1052C>A rs187461760
NM_183059.2(RD3):c.-1118A>T rs748107586
NM_183059.2(RD3):c.-1120G>A rs886045920
NM_183059.2(RD3):c.-1123T>C rs10863899
NM_183059.2(RD3):c.-142C>T rs886045902
NM_183059.2(RD3):c.-15+10A>C rs886045900
NM_183059.2(RD3):c.-169_-168GA[1] rs886045903
NM_183059.2(RD3):c.-191G>A rs551882177
NM_183059.2(RD3):c.-192C>T rs573005358
NM_183059.2(RD3):c.-204_-203insC rs11463656
NM_183059.2(RD3):c.-28G>A rs886045901
NM_183059.2(RD3):c.-294T>C rs886045906
NM_183059.2(RD3):c.-295_-294del rs1553282313
NM_183059.2(RD3):c.-296_-295dup rs1491560139
NM_183059.2(RD3):c.-297A>C rs202137622
NM_183059.2(RD3):c.-305A>C rs886045912
NM_183059.2(RD3):c.-305_-297delinsC rs886045910
NM_183059.2(RD3):c.-307A>C rs866406243
NM_183059.2(RD3):c.-307_-297delinsC rs886045911
NM_183059.2(RD3):c.-332C>T rs886045913
NM_183059.2(RD3):c.-335A>G rs886045914
NM_183059.2(RD3):c.-339_-338AC[16] rs34485370
NM_183059.2(RD3):c.-339_-338AC[19] rs34485370
NM_183059.2(RD3):c.-339_-338AC[20] rs34485370
NM_183059.2(RD3):c.-339_-338AC[21] rs34485370
NM_183059.2(RD3):c.-339_-338AC[23] rs34485370
NM_183059.2(RD3):c.-339_-338AC[24] rs34485370
NM_183059.2(RD3):c.-340_-339del rs886045915
NM_183059.2(RD3):c.-343G>A rs376931725
NM_183059.2(RD3):c.-343_-340del rs886045916
NM_183059.2(RD3):c.-344C>T rs532622973
NM_183059.2(RD3):c.-358G>A rs886045917
NM_183059.2(RD3):c.-359C>T rs77237846
NM_183059.2(RD3):c.-495T>G rs147349161
NM_183059.2(RD3):c.-504G>A rs886045918
NM_183059.2(RD3):c.-505C>T rs570507460
NM_183059.2(RD3):c.-539G>T rs143497175
NM_183059.2(RD3):c.-556G>A rs181065744
NM_183059.2(RD3):c.-572G>A rs139370470
NM_183059.2(RD3):c.-640G>A rs190249862
NM_183059.2(RD3):c.-712G>C rs886045919
NM_183059.2(RD3):c.-714G>C rs561881146
NM_183059.2(RD3):c.-884C>A rs781387518
NM_183059.2(RD3):c.-925G>A rs182459299
NM_183059.2(RD3):c.134G>A (p.Arg45Gln) rs146921079
NM_183059.2(RD3):c.227T>C (p.Ile76Thr) rs752858252
NM_183059.2(RD3):c.233G>A (p.Arg78Gln) rs199896612
NM_183059.2(RD3):c.259A>G (p.Lys87Glu) rs200585050
NM_183059.2(RD3):c.468C>T (p.Arg156=) rs148189077
NM_183059.2(RD3):c.493G>A (p.Asp165Asn) rs746738197
NM_183059.2(RD3):c.527A>G (p.Asp176Gly) rs775663367
NM_183059.2(RD3):c.545G>A (p.Arg182Gln) rs747890482
NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val) rs1567453873
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp) rs143681049
NM_201253.3(CRB1):c.*116A>G rs575882211
NM_201253.3(CRB1):c.*158G>T rs886045789
NM_201253.3(CRB1):c.*28T>C rs41302107
NM_201253.3(CRB1):c.*331_*337dup rs886045790
NM_201253.3(CRB1):c.*393T>C rs147966959
NM_201253.3(CRB1):c.*412T>C rs564341986
NM_201253.3(CRB1):c.1172-12A>G rs146175509
NM_201253.3(CRB1):c.1172-15T>A rs375141011
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1428C>T (p.Thr476=) rs62636282
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283
NM_201253.3(CRB1):c.1752C>T (p.Asp584=) rs750442312
NM_201253.3(CRB1):c.2010T>C (p.Cys670=) rs201949837
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.3(CRB1):c.2128+15A>C rs75691013
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) rs140494140
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) rs886045784
NM_201253.3(CRB1):c.2419C>T (p.Leu807=) rs371089348
NM_201253.3(CRB1):c.2677-8C>T rs73071678
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) rs534108312
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2843-13C>T rs199808176
NM_201253.3(CRB1):c.2863A>C (p.Asn955His) rs886045785
NM_201253.3(CRB1):c.2917C>G (p.Leu973Val) rs886045786
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) rs886045787
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met) rs116246250
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg) rs142090517
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.3750-3T>C rs187937543
NM_201253.3(CRB1):c.3878+15A>T rs200217112
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212
NM_201253.3(CRB1):c.71-12A>T rs12042179
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14473C>T (p.His4825Tyr) rs1158010100
NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316
NM_206933.3(USH2A):c.2135del (p.Asn711_Ser712insTer) rs1238314101
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.3(USH2A):c.4758+3A>G rs117798425
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.7061G>A (p.Arg2354His) rs201386640
NR_148338.1(LOC107986845):n.884G>A rs183121204
Single allele

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