ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 502
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HGVS dbSNP
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.2927G>T (p.Arg976Leu) rs61750184
NM_000180.3(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610
NM_000180.3:c.2431G>A
NM_000180.3:c.752T>C
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000329.3(RPE65):c.*511G>A rs149449684
NM_000329.3(RPE65):c.*517G>A rs574708413
NM_000329.3(RPE65):c.*588C>A rs541546843
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.*760A>C rs886046508
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1243+10T>C rs548537552
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.267C>T (p.Tyr89=) rs372620785
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.845A>G (p.Asn282Ser) rs144612129
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832
NM_000554.6(CRX):c.*1149G>A rs886054555
NM_000554.6(CRX):c.*118C>A rs543729483
NM_000554.6(CRX):c.*1309T>C rs886054556
NM_000554.6(CRX):c.*132G>A rs886054548
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*1759G>T rs886054558
NM_000554.6(CRX):c.*2113A>G rs555800382
NM_000554.6(CRX):c.*234G>A rs754333326
NM_000554.6(CRX):c.*2485C>T rs564202140
NM_000554.6(CRX):c.*252C>T rs886054549
NM_000554.6(CRX):c.*2573C>T rs886054559
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.*2889G>A rs886054561
NM_000554.6(CRX):c.*2952G>A rs886054562
NM_000554.6(CRX):c.*392G>A rs886054550
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*436G>T rs759530877
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.*809C>G rs574128797
NM_000554.6(CRX):c.*839C>T rs541379131
NM_000554.6(CRX):c.*907C>T rs559582292
NM_000554.6(CRX):c.*908G>A rs886054554
NM_000554.6(CRX):c.-55C>T rs886054543
NM_000554.6(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455
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_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.*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.*631C>T rs760544024
NM_000883.4(IMPDH1):c.*722C>T rs886061980
NM_000883.4(IMPDH1):c.-59G>A rs886061985
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) rs780213373
NM_000883.4(IMPDH1):c.146+9C>T rs749118285
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_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
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_001077182.3(FSCN2):c.72del (p.Thr25fs) rs376633374
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.*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.*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.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.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.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.859-12G>C rs115317386
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) rs886037840
NM_001257965.2(CRB1):c.-212-34222G>A rs886045782
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.*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.*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.-73T>C rs886055798
NM_002242.4(KCNJ13):c.-74C>T rs755592443
NM_002242.4(KCNJ13):c.474G>A (p.Ala158=) rs769501717
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.*278C>T rs886061335
NM_003322.6(TULP1):c.*305G>A rs149035389
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.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.544A>G (p.Arg182Gly) rs142641513
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) rs748334290
NM_003322.6(TULP1):c.823-8G>A rs372183095
NM_003322.6(TULP1):c.846G>A (p.Pro282=) rs149980694
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) rs148838796
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) rs140460892
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.*1585T>G rs886059168
NM_004744.5(LRAT):c.*2190C>T rs886059169
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.*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.*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.*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.403G>T (p.Ala135Ser) rs139819099
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) rs1554519422
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_014336.5(AIPL1):c.*1007C>T rs111456528
NM_014336.5(AIPL1):c.*1017C>T rs868498336
NM_014336.5(AIPL1):c.*1165C>T rs528789571
NM_014336.5(AIPL1):c.*1335A>C rs886053260
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_*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.*1679G>C rs886053254
NM_014336.5(AIPL1):c.*23C>G rs369568105
NM_014336.5(AIPL1):c.*280G>A rs886053261
NM_014336.5(AIPL1):c.*53C>T rs151279098
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*748C>T rs543789961
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.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986
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.616A>G (p.Ile206Val) rs772911646
NM_014336.5(AIPL1):c.639C>T (p.Thr213=) rs371485219
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.780C>T (p.His260=) rs145304845
NM_014336.5(AIPL1):c.785-11G>A rs199772097
NM_014336.5(AIPL1):c.97-15C>T rs190887679
NM_014989.5(RIMS1):c.3139del (p.Thr1047fs) rs587783021
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.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.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.207G>A (p.Ser69=) rs142913613
NM_018418.5(SPATA7):c.372+11A>G rs757636745
NM_018418.5(SPATA7):c.387G>A (p.Pro129=) rs199727517
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_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.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.1920C>T (p.Ala640=) rs368434311
NM_020366.3(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515
NM_020366.3(RPGRIP1):c.218+13C>G rs200225522
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.2618A>G (p.His873Arg) rs573418252
NM_020366.3(RPGRIP1):c.2700A>C (p.Glu900Asp) rs781608496
NM_020366.3(RPGRIP1):c.2924T>C (p.Ile975Thr) rs886050399
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.310G>C (p.Gly104Arg) rs377018856
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.3748+17dupT rs578107768
NM_020366.3(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397
NM_020366.3(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
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_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.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.3(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
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.2616G>A (p.Ser872=) rs776360559
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.3654T>C (p.Leu1218=) rs201838492
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.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.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.5587-8T>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.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.942+6T>G rs886049884
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.*1342T>G rs780834996
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.*1652C>T rs184074454
NM_183059.2(RD3):c.*1672C>T rs544513757
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.*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.-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.-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.*331_*337dup rs886045790
NM_201253.3(CRB1):c.*412T>C rs564341986
NM_201253.3(CRB1):c.1172-15T>A rs375141011
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765
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.2225T>C (p.Phe742Ser) rs140494140
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.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.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)
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.7061G>A (p.Arg2354His) rs201386640

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