ClinVar Miner

List of variants studied for Senior-Loken syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 456
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051 0.64838
NM_006642.5(SDCCAG8):c.-47T>A rs3904682 0.41725
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011 0.41204
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155 0.25552
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995 0.25469
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997 0.04804
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_001023570.4(IQCB1):c.-193T>C rs114555283 0.02852
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529 0.02103
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_015102.5(NPHP4):c.*314T>G rs111874674 0.02020
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800 0.01658
NM_015102.5(NPHP4):c.1611+9C>T rs114900019 0.01637
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857 0.01235
NM_015102.5(NPHP4):c.*128A>C rs116747881 0.01171
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543 0.01165
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111 0.01102
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067 0.01099
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767 0.00982
NM_001023570.4(IQCB1):c.-178C>T rs191557781 0.00949
NM_025114.4(CEP290):c.-33G>T rs139415563 0.00894
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479 0.00418
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_015102.5(NPHP4):c.279+11G>A rs113902159 0.00401
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_015102.5(NPHP4):c.1503+10G>A rs41307782 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404 0.00342
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810 0.00328
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_005465.7(AKT3):c.*5398_*5402dup rs368945100 0.00273
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088 0.00188
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622 0.00172
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_001128178.3(NPHP1):c.*250C>T rs150558683 0.00139
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293 0.00121
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697 0.00113
NM_001023570.4(IQCB1):c.*218G>A rs552311575 0.00110
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_006642.5(SDCCAG8):c.-4G>A rs113193158 0.00083
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_006642.5(SDCCAG8):c.-130C>A rs547776191 0.00072
NM_015102.5(NPHP4):c.-90A>T rs527962872 0.00070
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_015102.5(NPHP4):c.4141-11C>T rs139203183 0.00066
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059 0.00064
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970 0.00062
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_015102.4(NPHP4):c.-235G>A rs765435500 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) rs145078518 0.00057
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939 0.00052
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730 0.00051
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00046
NM_001023570.4(IQCB1):c.877-11C>T rs192296154 0.00045
NM_025114.3(CEP290):c.-235T>G rs569632834 0.00045
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu) rs186014615 0.00042
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) rs190522911 0.00041
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00040
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211 0.00038
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568 0.00038
NM_015102.5(NPHP4):c.3045-5C>T rs2297790 0.00038
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445 0.00036
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00035
NM_001023570.4(IQCB1):c.-147del rs886057829 0.00034
NM_015102.5(NPHP4):c.2485+9C>A rs200952409 0.00034
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243 0.00034
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553 0.00034
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001023570.4(IQCB1):c.-190C>T rs145282757 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_006642.5(SDCCAG8):c.-121C>T rs768318766 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_001023570.3(IQCB1):c.-215C>T rs541891117 0.00026
NM_001023570.4(IQCB1):c.*148T>C rs190963373 0.00026
NM_025114.3(CEP290):c.-295T>C rs374616539 0.00026
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560 0.00025
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu) rs372414566 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586 0.00023
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=) rs151151838 0.00023
NM_015102.4(NPHP4):c.-236C>T rs185912310 0.00022
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met) rs199712626 0.00019
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His) rs137932153 0.00019
NM_025114.4(CEP290):c.-147A>T rs753567406 0.00019
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) rs199875603 0.00016
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680 0.00016
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001009894.3(RLIG1):c.*594T>C rs376016171 0.00014
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083 0.00014
NM_015102.5(NPHP4):c.2490C>T (p.His830=) rs549982601 0.00014
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970 0.00014
NM_015102.5(NPHP4):c.-202C>T rs145074678 0.00013
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139 0.00013
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978 0.00013
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val) rs369335626 0.00011
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met) rs201433248 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_015102.5(NPHP4):c.-52G>T rs886046468 0.00010
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala) rs199561679 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_000272.3(NPHP1):c.-54C>T rs777453061 0.00009
NM_001023570.4(IQCB1):c.*151T>C rs1019317263 0.00009
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=) rs753733095 0.00009
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117 0.00009
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile) rs200702924 0.00009
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=) rs187149431 0.00009
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys) rs201605415 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_000272.4(NPHP1):c.*460T>A rs960612307 0.00008
NM_001023570.4(IQCB1):c.-12-4A>T rs760242984 0.00008
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu) rs543726103 0.00008
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) rs149259534 0.00006
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) rs373762948 0.00006
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly) rs369344801 0.00006
NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala) rs368324380 0.00006
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705 0.00006
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027 0.00006
NM_015102.5(NPHP4):c.3231+5G>A rs886046460 0.00006
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys) rs774386141 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln) rs768347263 0.00005
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys) rs572497035 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_001023570.4(IQCB1):c.1129+13A>G rs371443898 0.00004
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) rs778777318 0.00004
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149 0.00004
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204 0.00004
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys) rs190020173 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu) rs377160096 0.00004
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp) rs767779934 0.00004
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His) rs760874774 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_025114.4(CEP290):c.-96C>T rs528270888 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) rs886057828 0.00003
NM_006642.5(SDCCAG8):c.-131T>C rs886046327 0.00003
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278 0.00003
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554 0.00003
NM_015102.5(NPHP4):c.1330C>T (p.Arg444Trp) rs375090105 0.00003
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00003
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr) rs372250881 0.00003
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831 0.00003
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315 0.00003
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=) rs377728296 0.00003
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln) rs766202367 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) rs147708058 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_006642.5(SDCCAG8):c.741-7T>C rs755931555 0.00002
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile) rs779995407 0.00002
NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys) rs1349132502 0.00002
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=) rs375485412 0.00002
NM_015102.5(NPHP4):c.6C>T (p.Asn2=) rs371472576 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_001009894.3(RLIG1):c.*611A>G rs2033206514 0.00001
NM_001023570.4(IQCB1):c.*160C>T rs1490063473 0.00001
NM_001023570.4(IQCB1):c.*327T>C rs777172993 0.00001
NM_001023570.4(IQCB1):c.*399A>G rs1466189762 0.00001
NM_001023570.4(IQCB1):c.-179G>A rs1449304531 0.00001
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) rs760548277 0.00001
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) rs886057824 0.00001
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) rs1399676175 0.00001
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) rs886057826 0.00001
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
NM_001128178.3(NPHP1):c.-17G>A rs566875282 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_006642.5(SDCCAG8):c.-106G>T rs886046328 0.00001
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934 0.00001
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg) rs745351109 0.00001
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln) rs750265815 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met) rs1057515530 0.00001
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val) rs372403021 0.00001
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala) rs1003029505 0.00001
NM_015102.4(NPHP4):c.-225G>A rs886046469 0.00001
NM_015102.4(NPHP4):c.-237G>C rs867788720 0.00001
NM_015102.5(NPHP4):c.*285G>A rs1016860847 0.00001
NM_015102.5(NPHP4):c.*97T>A rs1016911668 0.00001
NM_015102.5(NPHP4):c.-206C>A rs539173372 0.00001
NM_015102.5(NPHP4):c.1047C>T (p.Val349=) rs560597983 0.00001
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) rs562484051 0.00001
NM_015102.5(NPHP4):c.135+15T>C rs766470480 0.00001
NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg) rs373787394 0.00001
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp) rs758253306 0.00001
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu) rs576761309 0.00001
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197 0.00001
NM_015102.5(NPHP4):c.2304+5C>T rs367651042 0.00001
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln) rs759656675 0.00001
NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser) rs886046464 0.00001
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile) rs886046463 0.00001
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=) rs762202268 0.00001
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_015102.5(NPHP4):c.3688C>G (p.Leu1230Val) rs1226725565 0.00001
NM_015102.5(NPHP4):c.3864C>T (p.Asp1288=) rs886046459 0.00001
NM_025114.4(CEP290):c.-203C>A rs961052158 0.00001
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.274A>G (p.Met92Val) rs951351175 0.00001
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_001009894.3(RLIG1):c.*618TATT[1] rs886049876
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_001023570.4(IQCB1):c.*197G>C rs1135750
NM_001023570.4(IQCB1):c.*226T>C rs886057822
NM_001023570.4(IQCB1):c.-147_-142del rs72421117
NM_001023570.4(IQCB1):c.-154T>G rs886057830
NM_001023570.4(IQCB1):c.-185C>G rs553719849
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) rs886057825
NM_001023570.4(IQCB1):c.1278+7C>T rs112780863
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) rs886057823
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu) rs200719828
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr) rs1950530790
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr) rs199775360
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) rs1372460709
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.488-13dup rs753164790
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) rs886057827
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro) rs1949231887
NM_001128178.3(NPHP1):c.*199A>G rs1679131109
NM_001128178.3(NPHP1):c.*333AAC[1] rs555468187
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) rs886054753
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) rs977347524
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_006642.5(SDCCAG8):c.*149T>C rs1057515424
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459
NM_006642.5(SDCCAG8):c.*97G>A rs554190542
NM_006642.5(SDCCAG8):c.-98C>T rs886046329
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=) rs778405068
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) rs753709808
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=) rs2080533501
NM_006642.5(SDCCAG8):c.1745-7T>A rs532763241
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.420+12A>G rs2068379887
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_015102.5(NPHP4):c.*26C>T rs533259623
NM_015102.5(NPHP4):c.*87C>G rs1640812510
NM_015102.5(NPHP4):c.136-12G>C rs371432148
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro) rs375429200
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=) rs773573886
NM_015102.5(NPHP4):c.1955+7C>A rs886046466
NM_015102.5(NPHP4):c.1987C>A (p.Pro663Thr) rs886046465
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys) rs764028061
NM_015102.5(NPHP4):c.2434G>A (p.Gly812Ser) rs755644390
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=) rs974196549
NM_015102.5(NPHP4):c.3045-4C>A rs886046462
NM_015102.5(NPHP4):c.3078C>T (p.Phe1026=) rs886046461
NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg) rs1557616048
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=) rs762953303
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly) rs748449029
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala) rs886046467
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile) rs2038007630
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) rs2037238288
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3574-9T>A rs202038547
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe) rs2036852568
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe) rs2036834615
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) rs2034338160
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val) rs2034240720
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453

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