ClinVar Miner

List of variants reported as benign for cone-rod dystrophy

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 574
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HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.1709-7T>C rs2359870 0.99609
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=) rs2463730 0.97497
NM_172364.5(CACNA2D4):c.228-215T>C rs758157 0.93628
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_172364.5(CACNA2D4):c.843-83C>G rs2906892 0.91687
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val) rs10735005 0.91686
NM_172364.5(CACNA2D4):c.1351+72A>G rs2429184 0.91685
NM_172364.5(CACNA2D4):c.310-106A>G rs1558142 0.90569
NM_000326.5(RLBP1):c.*167T>G rs834 0.89555
NM_172364.5(CACNA2D4):c.2471-27_2471-26insG rs58188909 0.89524
NM_031220.4(PITPNM3):c.2430T>C (p.Asp810=) rs11654099 0.88577
NM_172364.5(CACNA2D4):c.2247-35A>G rs7137876 0.84213
NM_003816.3(ADAM9):c.1303-47C>A rs9643905 0.79676
NM_001319074.4(RAX2):c.*866C>T rs917545 0.78969
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_172364.5(CACNA2D4):c.2342+92G>T rs7138458 0.78150
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_000322.5(PRPH2):c.*1375C>T rs405043 0.77180
NM_000322.5(PRPH2):c.*1357C>T rs405059 0.77171
NM_000322.5(PRPH2):c.*543G>A rs432753 0.77168
NM_000322.5(PRPH2):c.*762C>T rs1758213 0.77165
NM_172240.3(POC1B):c.1113+7C>T rs4842658 0.75411
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_172364.5(CACNA2D4):c.1068+89T>C rs10774003 0.72251
NM_031220.4(PITPNM3):c.*641C>T rs4796331 0.71281
NM_000554.6(CRX):c.*1455T>A rs10418834 0.68727
NM_014989.7(RIMS1):c.666A>G (p.Leu222=) rs2249021 0.68629
NM_000554.6(CRX):c.*2183T>C rs7259671 0.68119
NM_000409.5(GUCA1ANB-GUCA1A):c.-472A>C rs1132156 0.67936
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_014336.5(AIPL1):c.*606G>A rs10852881 0.63496
NM_000350.3(ABCA4):c.4773+48C>T rs472908 0.62724
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) rs3814213 0.58250
NM_033100.4(CDHR1):c.*2798G>A rs10509491 0.56109
NM_000350.3(ABCA4):c.4128+156C>T rs4147841 0.56024
NM_031220.4(PITPNM3):c.*3693A>G rs3169862 0.55730
NM_031220.4(PITPNM3):c.*556G>C rs4796500 0.55212
NM_006017.3(PROM1):c.*1078A>G rs3130 0.53265
NM_033100.4(CDHR1):c.477A>G (p.Ala159=) rs4933975 0.52743
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=) rs12401573 0.52167
NM_014989.7(RIMS1):c.*1038A>G rs2815736 0.52128
NM_014336.5(AIPL1):c.*753G>A rs62060993 0.51826
NM_172364.5(CACNA2D4):c.2659-37G>A rs2286377 0.51307
NM_031220.4(PITPNM3):c.705C>T (p.Thr235=) rs938288 0.50749
NM_001171971.3(CDHR1):c.2145G>A (p.Leu715=) rs4244947 0.49096
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751 0.48811
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val) rs2303345 0.48575
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_172364.5(CACNA2D4):c.*1336C>A rs1044825 0.45063
NM_001349884.2(DRAM2):c.693+14A>G rs325916 0.44754
NM_172364.5(CACNA2D4):c.*55A>C rs2058111 0.44223
NM_031220.4(PITPNM3):c.*2088A>G rs4796329 0.43732
NM_172364.5(CACNA2D4):c.*1387G>A rs13219 0.43235
NM_172364.5(CACNA2D4):c.*657G>A rs2286379 0.42974
NM_033100.4(CDHR1):c.1662A>G (p.Glu554=) rs10749482 0.42520
NM_031220.4(PITPNM3):c.*1840C>T rs4796330 0.41874
NM_172364.5(CACNA2D4):c.1940+49A>G rs10848582 0.40511
NM_000326.5(RLBP1):c.*296G>A rs2710 0.39999
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_031220.4(PITPNM3):c.*484T>C rs12449488 0.37101
NM_033100.4(CDHR1):c.*3768G>C rs2279229 0.36843
NM_031220.4(PITPNM3):c.1625-9G>A rs11654175 0.36838
NM_022367.4(SEMA4A):c.*538T>C rs7695 0.36079
NM_000554.6(CRX):c.*966G>C rs3933489 0.35856
NM_000554.6(CRX):c.*2106C>T rs12982537 0.35558
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_020366.4(RPGRIP1):c.1152-65G>A rs3748357 0.34499
NM_000554.6(CRX):c.*401A>C rs3848537 0.32753
NM_000554.6(CRX):c.*400A>T rs3848536 0.32741
NM_000554.6(CRX):c.*1346G>A rs12462534 0.32243
NM_000554.6(CRX):c.*579T>C rs4356586 0.32205
NM_000554.6(CRX):c.*682C>T rs3859431 0.31819
NM_000554.6(CRX):c.*2559G>C rs12463238 0.31236
NM_000554.6(CRX):c.*2704C>T rs12974951 0.31186
NM_031220.4(PITPNM3):c.238G>A (p.Ala80Thr) rs3809835 0.30670
NM_000554.6(CRX):c.*2717G>T rs11666203 0.30498
NM_000554.6(CRX):c.*3017C>T rs11666244 0.30306
NM_000554.6(CRX):c.*3301T>C rs11670620 0.30261
NM_000554.6(CRX):c.*3279C>T rs11666316 0.30253
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_014336.5(AIPL1):c.*1229C>T rs907938 0.28038
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=) rs114505309 0.27986
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
NM_031220.4(PITPNM3):c.*2981G>A rs3809839 0.27031
NM_001319074.4(RAX2):c.*1366C>G rs6510769 0.25783
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_001349884.2(DRAM2):c.601-9A>G rs325917 0.24497
NM_031220.4(PITPNM3):c.*3239C>T rs11078630 0.24348
NM_000322.5(PRPH2):c.*145G>A rs835 0.24219
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000322.5(PRPH2):c.*898C>A rs3176988 0.22759
NM_000322.5(PRPH2):c.*1001C>A rs45550933 0.22757
NM_172364.5(CACNA2D4):c.1515A>G (p.Thr505=) rs60945277 0.22589
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22440
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965 0.22187
NM_031220.4(PITPNM3):c.*3561G>A rs57360986 0.21950
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_001319074.4(RAX2):c.*785G>A rs917546 0.20551
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_014989.7(RIMS1):c.4548C>T (p.Phe1516=) rs2815738 0.20033
NM_020366.4(RPGRIP1):c.2215+7G>A rs7157052 0.19970
NM_000350.3(ABCA4):c.5836-43C>A rs2275031 0.19847
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_014336.5(AIPL1):c.*1009A>G rs4577135 0.19087
NM_000554.6(CRX):c.*1122G>C rs73576710 0.17992
NM_000554.6(CRX):c.*769G>A rs55835533 0.17955
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001384910.1(GUCA1A):c.-83G>A rs9471793 0.17353
NM_033100.4(CDHR1):c.*3020G>A rs11594855 0.17242
NM_001319074.4(RAX2):c.*720G>A rs917547 0.16734
NM_172364.5(CACNA2D4):c.1599A>G (p.Ser533=) rs7966806 0.16201
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=) rs17792599 0.16008
NM_001319074.4(RAX2):c.*1149C>T rs1860322 0.15969
NM_001319074.4(RAX2):c.217-8C>T rs79588413 0.15214
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_177965.4(CFAP418):c.*1458A>C rs10109660 0.14928
NM_001384910.1(GUCA1A):c.-26A>G rs6937603 0.14446
NM_000554.6(CRX):c.100+12C>T rs62128766 0.14108
NM_172364.5(CACNA2D4):c.2517G>A (p.Ala839=) rs33972365 0.14052
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_172364.5(CACNA2D4):c.*1275T>G rs12811035 0.13240
NM_014989.7(RIMS1):c.*1964C>A rs1055270 0.13021
NM_005148.4(UNC119):c.*1C>T rs2070139 0.12907
NM_172364.5(CACNA2D4):c.1068+13G>A rs61386831 0.12491
NM_000180.4(GUCY2D):c.2576+37G>T rs12103471 0.12387
NM_000554.6(CRX):c.*2171C>T rs77875912 0.12286
NM_000554.6(CRX):c.*2380C>T rs62128810 0.12202
NM_000554.6(CRX):c.*1046C>T rs62128808 0.12194
NM_000554.6(CRX):c.*1289G>A rs62128809 0.12192
NM_000554.6(CRX):c.*3285C>G rs62128811 0.12171
NM_000554.6(CRX):c.*679G>A rs112202398 0.12071
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_014989.7(RIMS1):c.*1494T>C rs73750480 0.11554
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.11446
NM_014989.7(RIMS1):c.*1076A>G rs9446638 0.11417
NM_014336.5(AIPL1):c.*1391C>T rs907939 0.11244
NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=) rs33912216 0.10702
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_172364.5(CACNA2D4):c.1866G>A (p.Pro622=) rs758160 0.10656
NM_014336.5(AIPL1):c.*1202C>T rs907937 0.10352
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_172364.5(CACNA2D4):c.*467A>G rs73041886 0.09439
NM_172364.5(CACNA2D4):c.*463G>A rs73041888 0.09393
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_014336.5(AIPL1):c.*1018G>A rs2871287 0.08814
NM_031220.4(PITPNM3):c.2307-5A>G rs73346359 0.08488
NM_031220.4(PITPNM3):c.49C>T (p.Pro17Ser) rs28493751 0.08290
NM_031220.4(PITPNM3):c.*2203G>A rs28593105 0.07671
NM_172364.5(CACNA2D4):c.237A>G (p.Leu79=) rs73038195 0.06912
NM_177965.4(CFAP418):c.*1949C>G rs117011452 0.06868
NM_001319074.4(RAX2):c.*680G>A rs28673245 0.06699
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_172364.5(CACNA2D4):c.2035C>T (p.Leu679=) rs2286372 0.06118
NM_031220.4(PITPNM3):c.1206G>A (p.Ser402=) rs7225547 0.06006
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904 0.05758
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_172364.5(CACNA2D4):c.2316C>T (p.Phe772=) rs11836202 0.05504
NM_000554.6(CRX):c.*3238G>A rs4081725 0.05457
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_014336.5(AIPL1):c.784+18G>A rs7222126 0.05323
NM_031220.4(PITPNM3):c.*3878G>A rs56787229 0.05010
NM_003816.3(ADAM9):c.701C>T (p.Ala234Val) rs113649109 0.04523
NM_000554.6(CRX):c.*1792C>T rs56226622 0.04477
NM_177965.4(CFAP418):c.*2525T>C rs74318654 0.04409
NM_177965.4(CFAP418):c.*2163T>C rs75940981 0.04268
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04259
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_000326.5(RLBP1):c.*322C>T rs8039787 0.04087
NM_003816.3(ADAM9):c.78C>A (p.Val26=) rs148707472 0.04055
NM_000328.3(RPGR):c.2149+46C>T rs41312110 0.03703
NM_031220.4(PITPNM3):c.*1909G>C rs58508424 0.03645
NM_003816.3(ADAM9):c.1218A>G (p.Pro406=) rs35438678 0.03634
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_177965.4(CFAP418):c.*1604C>G rs62522657 0.03460
NM_177965.4(CFAP418):c.*1667T>C rs62522656 0.03418
NM_000322.5(PRPH2):c.-11A>C rs114062933 0.03391
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184 0.03219
NM_172364.5(CACNA2D4):c.1068+12C>T rs77282921 0.03029
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02884
NM_005148.4(UNC119):c.*72C>T rs1802094 0.02861
NM_172364.5(CACNA2D4):c.3310-4G>A rs80092457 0.02675
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_000326.5(RLBP1):c.*242A>C rs8025719 0.02630
NM_001384910.1(GUCA1A):c.*479C>T rs6899575 0.02610
NM_000322.5(PRPH2):c.*132C>T rs77363417 0.02609
NM_172364.5(CACNA2D4):c.*1360G>A rs2041139 0.02608
NM_000322.5(PRPH2):c.*174C>T rs73426412 0.02603
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000326.5(RLBP1):c.-70G>A rs3743384 0.02517
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_000322.5(PRPH2):c.*276G>C rs76754927 0.02448
NM_001319074.4(RAX2):c.*902G>T rs10405125 0.02418
NM_031220.4(PITPNM3):c.477C>T (p.Ser159=) rs34897053 0.02372
NM_014989.7(RIMS1):c.3470C>T (p.Pro1157Leu) rs41265501 0.02304
NM_172364.5(CACNA2D4):c.2793-15G>A rs147575839 0.02191
NM_000322.5(PRPH2):c.*839G>A rs73426405 0.02142
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128
NM_172364.5(CACNA2D4):c.2746G>A (p.Asp916Asn) rs62621429 0.02126
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_172364.5(CACNA2D4):c.*1624G>C rs59734486 0.01973
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_014989.7(RIMS1):c.1776G>A (p.Glu592=) rs77121218 0.01826
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_014989.7(RIMS1):c.*75G>A rs11751101 0.01731
NM_020366.4(RPGRIP1):c.*10T>C rs80191010 0.01626
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_172364.5(CACNA2D4):c.2065A>G (p.Ile689Val) rs76224631 0.01557
NM_172364.5(CACNA2D4):c.2087A>G (p.His696Arg) rs115228472 0.01555
NM_014989.7(RIMS1):c.743C>T (p.Ser248Leu) rs116476753 0.01524
NM_014989.7(RIMS1):c.*280C>T rs9446637 0.01505
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu) rs76076446 0.01485
NM_000554.6(CRX):c.101-12A>G rs73941294 0.01428
NM_031220.4(PITPNM3):c.*1299C>T rs7218551 0.01384
NM_172364.5(CACNA2D4):c.-91G>A rs76066543 0.01383
NM_000180.4(GUCY2D):c.3043+20G>C rs78844078 0.01374
NM_001319074.4(RAX2):c.*647T>C rs112369501 0.01352
NM_001319074.4(RAX2):c.*381A>G rs73531473 0.01319
NM_000326.5(RLBP1):c.529T>C (p.Leu177=) rs78719794 0.01311
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_033100.4(CDHR1):c.*3504A>C rs114617516 0.01276
NM_000554.6(CRX):c.*2299C>T rs73038757 0.01254
NM_177965.4(CFAP418):c.*2419T>A rs74748655 0.01254
NM_177965.4(CFAP418):c.*644C>G rs77165822 0.01246
NM_000554.6(CRX):c.*1220G>A rs58323327 0.01193
NM_000554.6(CRX):c.*3117A>G rs116336713 0.01169
NM_000322.5(PRPH2):c.*1230C>T rs79663042 0.01163
NM_000326.5(RLBP1):c.*380C>T rs115275013 0.01130
NM_177965.4(CFAP418):c.*2094C>T rs145349633 0.01119
NM_172364.5(CACNA2D4):c.*1557A>C rs58494350 0.01105
NM_172364.5(CACNA2D4):c.-72C>T rs73595529 0.01105
NM_172364.5(CACNA2D4):c.487-4C>T rs60194757 0.01079
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000554.6(CRX):c.*2017C>T rs73038753 0.01017
NM_172364.5(CACNA2D4):c.*1556T>C rs12303097 0.00963
NM_172364.5(CACNA2D4):c.*796G>A rs7956914 0.00961
NM_033100.4(CDHR1):c.*1360C>A rs73317918 0.00938
NM_033100.4(CDHR1):c.*767C>T rs60075421 0.00937
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_031220.4(PITPNM3):c.901-10G>C rs77580616 0.00927
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_000322.5(PRPH2):c.*1565G>A rs41273818 0.00908
NM_031220.4(PITPNM3):c.*576T>C rs570375031 0.00891
NM_031220.4(PITPNM3):c.*824G>T rs111943449 0.00887
NM_014989.7(RIMS1):c.*138G>T rs55642181 0.00886
NM_172364.5(CACNA2D4):c.*1217C>G rs151263240 0.00865
NM_172364.5(CACNA2D4):c.2152+13C>T rs143736778 0.00855
NM_014989.7(RIMS1):c.648G>A (p.Ser216=) rs116303981 0.00829
NM_000322.5(PRPH2):c.*1534T>C rs115252154 0.00821
NM_014989.7(RIMS1):c.2895G>A (p.Pro965=) rs41265493 0.00819
NM_172364.5(CACNA2D4):c.912G>A (p.Gly304=) rs74699105 0.00791
NM_172364.5(CACNA2D4):c.1508G>A (p.Ser503Asn) rs77736644 0.00781
NM_031220.4(PITPNM3):c.699C>T (p.Val233=) rs149964592 0.00707
NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=) rs35592908 0.00689
NM_014336.5(AIPL1):c.642+14G>A rs188779461 0.00682
NM_000554.6(CRX):c.*2880T>C rs142202442 0.00672
NM_000322.5(PRPH2):c.*989G>A rs142990052 0.00657
NM_020366.4(RPGRIP1):c.2292G>A (p.Ala764=) rs35207255 0.00650
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_000326.5(RLBP1):c.807C>T (p.His269=) rs62640017 0.00638
NM_172364.5(CACNA2D4):c.2588G>A (p.Arg863His) rs36077411 0.00630
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_000322.5(PRPH2):c.*1313G>A rs115451690 0.00625
NM_172364.5(CACNA2D4):c.2606C>T (p.Thr869Met) rs35331095 0.00625
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336 0.00623
NM_172364.5(CACNA2D4):c.2109G>C (p.Glu703Asp) rs77175207 0.00615
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000554.6(CRX):c.*2375G>A rs188212480 0.00612
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) rs140027620 0.00608
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00585
NM_006017.3(PROM1):c.1911+14G>A rs79077926 0.00565
NM_014989.7(RIMS1):c.2670T>C (p.His890=) rs34821160 0.00550
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser) rs55971855 0.00530
NM_172364.5(CACNA2D4):c.*1596G>A rs114262354 0.00523
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_006017.3(PROM1):c.1683-3C>T rs143470288 0.00518
NM_031220.4(PITPNM3):c.*3541C>T rs142047814 0.00511
NM_000554.6(CRX):c.*1961G>A rs117186518 0.00497
NM_006017.3(PROM1):c.*684C>T rs140362696 0.00496
NM_031220.4(PITPNM3):c.*555C>T rs147071422 0.00494
NM_014989.7(RIMS1):c.*2125G>C rs138055062 0.00491
NM_022367.4(SEMA4A):c.1434+12C>A rs114835695 0.00483
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_000554.6(CRX):c.*972C>G rs12462416 0.00473
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_000554.6(CRX):c.*2739G>A rs149039830 0.00452
NM_014989.7(RIMS1):c.*2251G>A rs116453051 0.00452
NM_014989.7(RIMS1):c.*1991T>G rs41265503 0.00445
NM_172364.5(CACNA2D4):c.2189C>T (p.Ala730Val) rs181994120 0.00442
NM_001319074.4(RAX2):c.45T>G (p.Gly15=) rs139127905 0.00435
NM_172364.5(CACNA2D4):c.139G>A (p.Val47Met) rs74606734 0.00424
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000326.5(RLBP1):c.796-7C>G rs74029958 0.00409
NM_014989.7(RIMS1):c.5076A>G (p.Ser1692=) rs61736795 0.00409
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_172364.5(CACNA2D4):c.1940+15C>T rs114870926 0.00397
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_031220.4(PITPNM3):c.*1617A>G rs191391858 0.00369
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_000554.6(CRX):c.*860C>T rs185098538 0.00359
NM_000180.4(GUCY2D):c.1566+17G>A rs140657975 0.00357
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg) rs150656720 0.00357
NM_001256789.3(CACNA1F):c.2334+123G>C rs185254714 0.00356
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000554.6(CRX):c.*767G>A rs544037698 0.00339
NM_000554.6(CRX):c.*2137G>A rs181823708 0.00337
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00329
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023 0.00324
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_014989.7(RIMS1):c.1459G>A (p.Ala487Thr) rs200422266 0.00320
NM_031220.4(PITPNM3):c.1477C>T (p.Arg493Trp) rs147943969 0.00314
NM_000554.6(CRX):c.*2396C>T rs374128749 0.00312
NM_005148.4(UNC119):c.*362C>G rs73278545 0.00312
NM_031220.4(PITPNM3):c.2472G>A (p.Leu824=) rs144737056 0.00305
NM_172364.5(CACNA2D4):c.2187C>T (p.Asp729=) rs78335326 0.00301
NM_014989.7(RIMS1):c.438C>T (p.Arg146=) rs142196418 0.00298
NM_001319074.4(RAX2):c.*1324A>G rs138882802 0.00293
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_000322.5(PRPH2):c.*509G>A rs56194662 0.00277
NM_031220.4(PITPNM3):c.226+9C>G rs145880642 0.00273
NM_001319074.4(RAX2):c.-270C>T rs776666200 0.00265
NM_014989.7(RIMS1):c.4923C>T (p.Ile1641=) rs144188801 0.00249
NM_000322.5(PRPH2):c.*1524G>C rs183409467 0.00247
NM_031220.4(PITPNM3):c.-24C>T rs572344237 0.00242
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_000554.6(CRX):c.*1063C>T rs143939023 0.00231
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_031220.4(PITPNM3):c.*1223C>T rs141728004 0.00224
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_031220.4(PITPNM3):c.*561C>G rs186452214 0.00205
NM_001319074.4(RAX2):c.*689C>T rs115071988 0.00201
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_014336.5(AIPL1):c.228T>C (p.Leu76=) rs141947237 0.00199
NM_005148.4(UNC119):c.220+15G>C rs200265148 0.00198
NM_006017.3(PROM1):c.-25T>A rs149845694 0.00194
NM_014989.7(RIMS1):c.3308+12T>G rs115294253 0.00192
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu) rs181567056 0.00191
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000322.5(PRPH2):c.*1687C>T rs139177846 0.00186
NM_014336.5(AIPL1):c.318G>A (p.Gln106=) rs142208422 0.00185
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_000554.6(CRX):c.*595C>T rs111448395 0.00176
NM_014989.7(RIMS1):c.3171C>T (p.Ser1057=) rs201355521 0.00174
NM_031220.4(PITPNM3):c.*198G>A rs542520491 0.00172
NM_031220.4(PITPNM3):c.*3253G>C rs563717612 0.00172
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_014989.7(RIMS1):c.*283A>G rs140634975 0.00168
NM_022367.4(SEMA4A):c.*102C>G rs76347207 0.00161
NM_014989.7(RIMS1):c.*1935A>G rs115062476 0.00159
NM_031220.4(PITPNM3):c.330C>T (p.Ile110=) rs141380388 0.00158
NM_000554.6(CRX):c.*2039C>T rs189556251 0.00156
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.2211+7C>T rs372262346 0.00150
NM_014989.7(RIMS1):c.594A>G (p.Thr198=) rs149442461 0.00147
NM_031220.4(PITPNM3):c.*34G>T rs189434615 0.00140
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294 0.00138
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=) rs144585562 0.00130
NM_000554.6(CRX):c.*996C>G rs550939154 0.00129
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) rs146849545 0.00128
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
NM_001319074.4(RAX2):c.*45C>T rs139146360 0.00120
NM_014336.5(AIPL1):c.853G>A (p.Ala285Thr) rs145430356 0.00119
NM_014336.5(AIPL1):c.854C>A (p.Ala285Glu) rs148543951 0.00119
NM_031220.4(PITPNM3):c.*2336A>G rs74390995 0.00116
NM_031220.4(PITPNM3):c.*2830G>C rs192300339 0.00115
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=) rs151106252 0.00111
NM_014989.7(RIMS1):c.3465G>A (p.Ala1155=) rs190562383 0.00108
NM_014336.5(AIPL1):c.756C>T (p.His252=) rs202182152 0.00107
NM_000554.6(CRX):c.102C>T (p.Ser34=) rs139778328 0.00102
NM_001319074.4(RAX2):c.282C>T (p.Ala94=) rs201021639 0.00102
NM_014336.5(AIPL1):c.234C>T (p.Ser78=) rs62635774 0.00102
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00100
NM_001319074.4(RAX2):c.*191C>T rs150808899 0.00099
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln) rs142465256 0.00090
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_005148.4(UNC119):c.267C>G (p.Val89=) rs145710399 0.00084
NM_000554.6(CRX):c.*19C>T rs79186398 0.00083
NM_031220.4(PITPNM3):c.*3685A>C rs572030994 0.00083
NM_003816.3(ADAM9):c.1728G>A (p.Glu576=) rs139284078 0.00081
NM_000322.5(PRPH2):c.*1372C>A rs56385342 0.00080
NM_014989.7(RIMS1):c.2367T>C (p.Asp789=) rs370823273 0.00077
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_020366.4(RPGRIP1):c.490+11A>C rs200740893 0.00076
NM_000322.5(PRPH2):c.*152G>A rs113384495 0.00073
NM_020366.4(RPGRIP1):c.2037C>T (p.Thr679=) rs372813238 0.00073
NM_000554.6(CRX):c.618C>T (p.Ser206=) rs145117150 0.00072
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) rs200520976 0.00070
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_014989.7(RIMS1):c.-302C>T rs577898637 0.00065
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=) rs146899730 0.00062
NM_031220.4(PITPNM3):c.216C>T (p.Asp72=) rs61755429 0.00061
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236 0.00061
NM_001319074.4(RAX2):c.156G>A (p.Pro52=) rs141804618 0.00059
NM_000554.6(CRX):c.*1684G>A rs141564522 0.00058
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) rs202029748 0.00058
NM_014989.7(RIMS1):c.813-14T>G rs180682682 0.00058
NM_031220.4(PITPNM3):c.*3390C>T rs552116533 0.00058
NM_031220.4(PITPNM3):c.2107C>T (p.Arg703Trp) rs149585484 0.00058
NM_031220.4(PITPNM3):c.*3509C>T rs188088185 0.00057
NM_031220.4(PITPNM3):c.1128G>A (p.Ala376=) rs146033772 0.00056
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
NM_005148.4(UNC119):c.502C>T (p.Arg168Cys) rs146916036 0.00053
NM_000322.5(PRPH2):c.909C>T (p.Ser303=) rs144111167 0.00049
NM_000326.5(RLBP1):c.306A>C (p.Ala102=) rs143817941 0.00049
NM_014989.7(RIMS1):c.-140T>C rs528494309 0.00049
NM_001319074.4(RAX2):c.-281G>A rs182965071 0.00048
NM_001319074.4(RAX2):c.-316G>A rs576680324 0.00048
NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=) rs369515171 0.00048
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_000180.4(GUCY2D):c.2413-14C>T rs189559705 0.00046
NM_014989.7(RIMS1):c.3786G>A (p.Ser1262=) rs369147538 0.00046
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_000326.5(RLBP1):c.795+15C>T rs181863443 0.00041
NM_005148.4(UNC119):c.*140A>G rs568283544 0.00041
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=) rs74748737 0.00041
NM_005148.4(UNC119):c.*226C>T rs80000715 0.00039
NM_031220.4(PITPNM3):c.*1313G>C rs188929777 0.00039
NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln) rs201865787 0.00038
NM_005148.4(UNC119):c.663C>T (p.Phe221=) rs139354163 0.00038
NM_000180.4(GUCY2D):c.3225-10C>T rs200705417 0.00034
NM_006017.3(PROM1):c.1911+8G>A rs370302107 0.00033
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_014989.7(RIMS1):c.*2291C>T rs78214534 0.00032
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_000180.4(GUCY2D):c.615C>A (p.Leu205=) rs568227769 0.00031
NM_001319074.4(RAX2):c.*1169G>A rs554924169 0.00031
NM_000554.6(CRX):c.*117T>A rs574641672 0.00030
NM_000554.6(CRX):c.*118C>A rs543729483 0.00030
NM_000554.6(CRX):c.*527C>T rs371749408 0.00030
NM_014989.7(RIMS1):c.942G>A (p.Arg314=) rs185069362 0.00025
NM_000180.4(GUCY2D):c.2577-15G>A rs199708312 0.00024
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_014989.7(RIMS1):c.*1458A>T rs549225918 0.00023
NM_005148.4(UNC119):c.*83G>C rs566810319 0.00022
NM_000180.4(GUCY2D):c.1026+6C>T rs147410617 0.00021
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00020
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_005148.4(UNC119):c.234C>T (p.Ser78=) rs147732652 0.00018
NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro) rs201798320 0.00018
NM_014989.7(RIMS1):c.3194+9C>A rs564292772 0.00017
NM_000180.4(GUCY2D):c.3246C>T (p.Ser1082=) rs374580575 0.00016
NM_014989.7(RIMS1):c.*1310A>G rs191038983 0.00015
NM_172364.5(CACNA2D4):c.227+11C>T rs75470223 0.00015
NM_014989.7(RIMS1):c.2242-12C>T rs190023733 0.00014
NM_014989.7(RIMS1):c.165-5C>G rs532652925 0.00013
NM_000554.6(CRX):c.*2602C>T rs562310108 0.00012
NM_005148.4(UNC119):c.437+7C>T rs200659406 0.00012
NM_000554.6(CRX):c.*1671G>A rs550538685 0.00010
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) rs146434364 0.00010
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743 0.00010
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_020366.4(RPGRIP1):c.86-20A>T rs372867069 0.00008
NM_000180.4(GUCY2D):c.1659T>G (p.Gly553=) rs766570845 0.00007
NM_014989.7(RIMS1):c.4860+15G>A rs553488575 0.00007
NM_031220.4(PITPNM3):c.287G>A (p.Arg96Gln) rs199749069 0.00007
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 0.00006
NM_000554.6(CRX):c.*1917G>A rs557773336 0.00006
NM_000554.6(CRX):c.*2539C>T rs146417527 0.00006
NM_000554.6(CRX):c.-39G>C rs531267959 0.00006
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800 0.00006
NM_005148.4(UNC119):c.-66T>G rs568917704 0.00006
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00005
NM_000554.6(CRX):c.276T>G (p.Ala92=) rs536401910 0.00005
NM_001319074.4(RAX2):c.*1054C>T rs368356816 0.00005
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser) rs200935038 0.00005
NM_000322.5(PRPH2):c.*1121A>C rs187919973 0.00004
NM_000554.6(CRX):c.591G>A (p.Pro197=) rs769009205 0.00004
NM_000554.6(CRX):c.645C>T (p.Phe215=) rs191794330 0.00004
NM_006017.3(PROM1):c.*1052G>A rs577484119 0.00004
NM_020366.4(RPGRIP1):c.2592T>C (p.Tyr864=) rs201639860 0.00004
NM_031220.4(PITPNM3):c.*3723G>A rs371539500 0.00004
NM_172364.5(CACNA2D4):c.837C>T (p.Arg279=) rs545533620 0.00004
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) rs763651232 0.00003
NM_005148.4(UNC119):c.281G>A (p.Arg94Gln) rs763481567 0.00003
NM_005148.4(UNC119):c.356G>A (p.Arg119Gln) rs200211619 0.00003
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092 0.00003
NM_020366.4(RPGRIP1):c.3749-6C>A rs373373799 0.00003
NM_031220.4(PITPNM3):c.838G>A (p.Ala280Thr) rs140298487 0.00003
NM_000554.6(CRX):c.*366C>T rs560185740 0.00002
NM_001319074.4(RAX2):c.*679C>T rs576669713 0.00001
NM_001319074.4(RAX2):c.217-10C>T rs772762463 0.00001
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) rs199674847 0.00001
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) rs568361529 0.00001
NM_014989.7(RIMS1):c.*783G>A rs150486970 0.00001
NM_014989.7(RIMS1):c.458A>C (p.Asn153Thr) rs552482751 0.00001
NM_014989.7(RIMS1):c.4842A>G (p.Pro1614=) rs376289027 0.00001
NM_020366.4(RPGRIP1):c.3239-14C>T rs542859849 0.00001
NM_000180.4(GUCY2D):c.11G>A (p.Cys4Tyr)
NM_000180.4(GUCY2D):c.1956+15del
NM_000180.4(GUCY2D):c.2114-9del rs2151802761
NM_000180.4(GUCY2D):c.2769+16del
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000180.4(GUCY2D):c.3043+15del
NM_000180.4(GUCY2D):c.3225-10del rs750454050
NM_000322.5(PRPH2):c.*797G>A rs188694434
NM_000322.5(PRPH2):c.483C>T (p.Ile161=) rs76989855
NM_000350.3(ABCA4):c.1240-65del rs3215952
NM_000350.3(ABCA4):c.4352+54A>G rs547806
NM_000350.3(ABCA4):c.4774-17_4774-16del rs55860151
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000409.5(GUCA1ANB-GUCA1A):c.-457-8C>T rs58894089
NM_000554.6(CRX):c.*2155G>A rs113560570
NM_000554.6(CRX):c.*2758C>A rs117717088
NM_000554.6(CRX):c.*2937T>C rs7248427
NM_000554.6(CRX):c.*591G>C rs3859430
NM_000554.6(CRX):c.101-3del rs727503894
NM_001256789.3(CACNA1F):c.2928+5C>T rs2147908085
NM_001256789.3(CACNA1F):c.3037-30G>A rs2065733290
NM_003816.3(ADAM9):c.1130+15_1130+18dup rs10651669
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) rs199727800
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.853_854delinsAA (p.Ala285Lys) rs2150674893
NM_014336.5(AIPL1):c.96+14del
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014989.7(RIMS1):c.*2049T>A rs542135172
NM_014989.7(RIMS1):c.*2429G>A rs570975514
NM_014989.7(RIMS1):c.459+12A>G rs552585116
NM_020061.6(OPN1LW):c.511G>A (p.Val171Met) rs5986963
NM_020061.6(OPN1LW):c.513G>T (p.Val171=) rs5986964
NM_020366.4(RPGRIP1):c.3748+17dup rs578107768
NM_020366.4(RPGRIP1):c.490+23dup
NM_020366.4(RPGRIP1):c.907-25AAT[3] rs398099213
NM_022367.4(SEMA4A):c.*334C>T rs148852472
NM_031220.4(PITPNM3):c.*2061C>T rs4796499
NM_031220.4(PITPNM3):c.*3708G>A rs574669515
NM_031220.4(PITPNM3):c.*3734G>A rs145961702
NM_031220.4(PITPNM3):c.*924G>A rs549677933
NM_031220.4(PITPNM3):c.36G>A (p.Pro12=) rs369702538
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr) rs201515900
NM_172240.3(POC1B):c.453-12_453-3del rs59139895
NM_172364.5(CACNA2D4):c.*1202del rs57667551
NM_172364.5(CACNA2D4):c.*1428_*1429insGAG rs77487055
NM_172364.5(CACNA2D4):c.1359C>T (p.Tyr453=) rs573565912
NM_172364.5(CACNA2D4):c.1879-63C>G rs2370057
NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=) rs116214586
NM_172364.5(CACNA2D4):c.2342+96C>A rs7137553
NM_172364.5(CACNA2D4):c.419C>G (p.Ala140Gly) rs202054008
NM_172364.5(CACNA2D4):c.781+55_781+56insAAGAC rs59151112
NM_177965.4(CFAP418):c.*1811A>G rs114732021

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