ClinVar Miner

List of variants reported as likely benign for ciliopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 627
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HGVS dbSNP gnomAD frequency
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.36518
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala) rs10269582 0.34362
NM_018719.5(CDCA7L):c.*980T>C rs7971 0.27747
NM_002055.5(GFAP):c.*28C>G rs11558961 0.27601
NM_213607.3(CCDC103):c.*4G>A rs8079308 0.26209
NM_002055.5(GFAP):c.*1522T>C rs17027 0.26200
NM_213607.2(CCDC103):c.-164T>G rs2277617 0.25672
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021 0.23311
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=) rs11768670 0.20699
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20643
NM_018719.5(CDCA7L):c.*501T>C rs12700325 0.20592
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_031885.3(BBS2):c.-239G>A rs2303284 0.19980
NM_152618.3(BBS12):c.*187dup rs386401352 0.19865
NM_015910.6(WDPCP):c.-396T>G rs2278718 0.19689
NM_000152.5(GAA):c.-260G>C rs2304849 0.16933
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) rs9297853 0.15619
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg) rs12670130 0.14853
NM_002055.5(GFAP):c.*338C>T rs8067254 0.14346
NM_001277115.2(DNAH11):c.11202+13G>A rs73279830 0.13824
NM_213607.3(CCDC103):c.276+6T>C rs74349463 0.12539
NM_002055.5(GFAP):c.*814T>A rs3744470 0.12217
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=) rs4392792 0.12205
NM_001134831.2(AHI1):c.*396_*397dup rs397885237 0.11907
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=) rs2072220 0.11781
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134 0.11626
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys) rs62441683 0.11359
NM_019892.6(INPP5E):c.*926T>C rs1128877 0.10951
NM_002055.5(GFAP):c.*1001G>A rs1042329 0.10683
NM_002055.5(GFAP):c.*1620C>T rs7049 0.10679
NM_001277115.2(DNAH11):c.3256-10C>G rs17745898 0.10468
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10451
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=) rs2285942 0.09968
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_018718.2(CEP41):c.-144G>A rs10230435 0.08654
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
NM_023073.3(CPLANE1):c.-234G>C rs80164363 0.08017
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747 0.07116
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001178007.1(BBS12):c.-391C>T rs28642232 0.06726
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980 0.06056
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_017950.3(CCDC40):c.-36C>T rs73437681 0.05525
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly) rs17144835 0.05345
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=) rs12666072 0.05248
NM_178452.6(DNAAF1):c.-83dup rs149813685 0.04983
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
NM_016464.4(TMEM138):c.-308A>G rs7120780 0.04768
NM_031427.4(DNAL1):c.*7710_*7711dup rs201343251 0.04579
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr) rs72655988 0.04164
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile) rs72655982 0.04096
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_198525.3(KIF7):c.-5T>G rs62021460 0.03972
NM_024809.5(TCTN2):c.-55C>A rs78846567 0.03708
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His) rs2003417 0.03504
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_001277115.2(DNAH11):c.12508-12T>C rs72658822 0.03145
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03138
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=) rs72658820 0.03062
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153 0.02890
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382 0.02858
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956 0.02787
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02757
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_000152.5(GAA):c.-178G>A rs77514632 0.02487
NM_000152.5(GAA):c.-338C>G rs144639114 0.02435
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) rs74599901 0.02427
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_017950.4(CCDC40):c.*654A>C rs2289538 0.02366
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=) rs111995400 0.02321
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr) rs72655969 0.02191
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_012144.4(DNAI1):c.-178G>C rs3802429 0.01938
NM_019892.6(INPP5E):c.-174G>A rs544247720 0.01935
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_178452.6(DNAAF1):c.228C>T (p.His76=) rs61743547 0.01842
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_017950.4(CCDC40):c.*265C>T rs74000393 0.01774
NM_002408.4(MGAT2):c.261G>T (p.Leu87=) rs2228449 0.01763
NM_018719.5(CDCA7L):c.*1052G>A rs72658841 0.01754
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr) rs28751578 0.01743
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_001377.3(DYNC2H1):c.*265C>T rs78537620 0.01600
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_015681.6(B9D1):c.580T>C (p.Leu194=) rs7212549 0.01478
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001377.3(DYNC2H1):c.-94G>T rs114993913 0.01448
NM_001369.3(DNAH5):c.*1389C>T rs77701143 0.01404
NM_001044385.3(TMEM237):c.*3124A>T rs79378497 0.01390
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01383
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_000549.5(TSHB):c.-13A>G rs77331078 0.01269
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01256
NM_001278293.3(ARL6):c.-240C>T rs116162146 0.01233
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_024809.5(TCTN2):c.*67C>T rs112214860 0.01216
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546 0.01201
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile) rs117169123 0.01149
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_023036.6(DNAI2):c.55+6G>A rs118104009 0.01132
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01103
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578 0.01102
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067 0.01099
NM_001199397.3(NEK1):c.-488C>T rs62334514 0.01094
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp) rs73980038 0.01073
NM_012144.4(DNAI1):c.978A>C (p.Gln326His) rs16931555 0.01063
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val) rs35636875 0.01015
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_001369.3(DNAH5):c.6061+10A>G rs77957856 0.00962
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_001023570.4(IQCB1):c.-178C>T rs191557781 0.00949
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071 0.00904
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_025114.4(CEP290):c.-33G>T rs139415563 0.00894
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met) rs72655972 0.00876
NM_001010892.3(RSPH4A):c.1798+11G>A rs41290844 0.00873
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_001369.3(DNAH5):c.*1502C>T rs144265705 0.00842
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 0.00808
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407 0.00785
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_181426.2(CCDC39):c.*325C>T rs73883902 0.00748
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057 0.00713
NM_014714.4(IFT140):c.*63A>G rs149678731 0.00706
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=) rs140498500 0.00702
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_018718.3(CEP41):c.*1512C>T rs73721889 0.00689
NM_001010892.3(RSPH4A):c.*250G>T rs58311062 0.00681
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_152732.5(RSPH9):c.263C>T (p.Ala88Val) rs35110984 0.00656
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00649
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_018139.3(DNAAF2):c.1626G>C (p.Arg542=) rs35763780 0.00645
NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala) rs112044935 0.00642
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00642
NM_001384732.1(CPLANE1):c.*396T>C rs115541718 0.00638
NM_001243156.2(TAF1C):c.*1033A>G rs4150186 0.00632
NM_001277115.2(DNAH11):c.6117G>A (p.Ala2039=) rs78763603 0.00628
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_001173990.3(TMEM216):c.*21A>G rs111371929 0.00615
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
NM_031885.5(BBS2):c.*13C>T rs141170836 0.00607
NM_001277115.2(DNAH11):c.3105G>A (p.Glu1035=) rs191011620 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_198428.3(BBS9):c.-305T>G rs112060099 0.00592
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=) rs144035254 0.00581
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn) rs76334696 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001369.3(DNAH5):c.*1156C>T rs115907706 0.00534
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe) rs61736879 0.00529
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=) rs77477793 0.00527
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_012210.4(TRIM32):c.*692C>G rs116058338 0.00526
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_001277115.2(DNAH11):c.1885C>T (p.Pro629Ser) rs150966144 0.00490
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_001082538.3(TCTN1):c.-46G>C rs538932401 0.00473
NM_001010892.3(RSPH4A):c.*491T>C rs116191088 0.00466
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_001277115.2(DNAH11):c.2275-15G>T rs60290948 0.00458
NM_023036.6(DNAI2):c.747C>T (p.Gly249=) rs148488355 0.00458
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001277115.2(DNAH11):c.4726-15T>C rs17144822 0.00445
NM_153717.3(EVC):c.*2126T>G rs191415414 0.00444
NM_002055.5(GFAP):c.*1074C>T rs117405516 0.00442
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_015910.7(WDPCP):c.-188G>C rs187916591 0.00436
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_181426.2(CCDC39):c.233G>A (p.Arg78His) rs115952495 0.00435
NM_001369.3(DNAH5):c.6062-4G>A rs143392650 0.00433
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro) rs141149453 0.00430
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_024753.5(TTC21B):c.*1225C>T rs60399987 0.00424
NM_033028.5(BBS4):c.*43G>T rs144706746 0.00421
NM_001044385.3(TMEM237):c.*3453T>G rs77771615 0.00420
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_001044385.3(TMEM237):c.*2137A>G rs115353606 0.00418
NM_001044385.3(TMEM237):c.*2349C>T rs74884418 0.00418
NM_001044385.3(TMEM237):c.*3372C>T rs192214909 0.00418
NM_001384732.1(CPLANE1):c.*807A>G rs78011227 0.00418
NM_012144.4(DNAI1):c.-116T>C rs62619982 0.00418
NM_001044385.3(TMEM237):c.*1107C>T rs143516209 0.00417
NM_001044385.3(TMEM237):c.*1975C>G rs142233268 0.00417
NM_001044385.3(TMEM237):c.*2719G>A rs142852956 0.00417
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001044385.3(TMEM237):c.*2180G>A rs77649251 0.00416
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn) rs150615436 0.00414
NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr) rs150737854 0.00410
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_001044385.3(TMEM237):c.*1588G>A rs150141936 0.00396
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00395
NM_023036.6(DNAI2):c.124G>A (p.Val42Met) rs151176313 0.00389
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00388
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr) rs145798624 0.00383
NM_001044385.3(TMEM237):c.*2431T>G rs142355657 0.00379
NM_020800.3(IFT80):c.*1089T>C rs181651029 0.00377
NM_024753.5(TTC21B):c.*656G>A rs180737925 0.00376
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=) rs147090213 0.00373
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_001384732.1(CPLANE1):c.4719C>T (p.Asp1573=) rs143084362 0.00368
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) rs112350099 0.00359
NM_001394148.2(LOC128706665):c.*87A>G rs140884406 0.00358
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_012144.4(DNAI1):c.639G>A (p.Thr213=) rs78865254 0.00348
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404 0.00342
NM_001044385.3(TMEM237):c.*2480T>G rs75655554 0.00337
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
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_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_017777.3(MKS1):c.-64T>C rs372127517 0.00325
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158 0.00319
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_001378615.1(CC2D2A):c.-87G>A rs145443888 0.00305
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_144596.4(TTC8):c.-25G>A rs7145692 0.00290
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00287
NM_018718.3(CEP41):c.*136T>G rs148305542 0.00287
NM_153717.3(EVC):c.*491C>T rs114993332 0.00287
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_018718.3(CEP41):c.*4314T>C rs114939029 0.00286
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_001384732.1(CPLANE1):c.7234-7C>G rs141575785 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_152618.3(BBS12):c.-61G>C rs59440868 0.00282
NM_153717.3(EVC):c.*2692G>T rs149155153 0.00279
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_147127.5(EVC2):c.*207A>G rs73072282 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235 0.00265
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_144596.4(TTC8):c.*93G>A rs116740320 0.00263
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_198525.3(KIF7):c.*37G>A rs147387691 0.00238
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00236
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) rs35301526 0.00228
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=) rs79329972 0.00226
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_014714.4(IFT140):c.3874-11C>T rs199887622 0.00220
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_024753.5(TTC21B):c.*1087A>T rs150328867 0.00213
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_001044385.3(TMEM237):c.*439G>A rs139374574 0.00208
NM_001044385.3(TMEM237):c.*634C>T rs139016907 0.00207
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00188
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 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_001384732.1(CPLANE1):c.5738-6C>T rs148634159 0.00186
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622 0.00172
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_018718.3(CEP41):c.*4594C>T rs151309255 0.00159
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279 0.00120
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_153717.3(EVC):c.*2493A>G rs188345323 0.00114
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met) rs141463861 0.00108
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn) rs142345677 0.00093
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_153717.3(EVC):c.*492G>A rs530991301 0.00090
NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala) rs80237479 0.00088
NM_015910.7(WDPCP):c.*327G>A rs565212301 0.00084
NM_006642.5(SDCCAG8):c.-4G>A rs113193158 0.00083
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_153717.3(EVC):c.*1976C>T rs56333422 0.00082
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551 0.00081
NM_014714.4(IFT140):c.*403G>A rs143732634 0.00078
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451 0.00076
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_033028.5(BBS4):c.*691G>A rs192812230 0.00074
NM_153717.3(EVC):c.*994C>T rs547970729 0.00071
NM_015102.5(NPHP4):c.-90A>T rs527962872 0.00070
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_001278293.3(ARL6):c.*470G>A rs184213166 0.00067
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=) rs2279122 0.00066
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970 0.00062
NM_144596.4(TTC8):c.*83A>G rs147325843 0.00059
NM_024753.5(TTC21B):c.*847A>C rs138656848 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe) rs550326630 0.00058
NM_024649.5(BBS1):c.*219A>G rs74451472 0.00057
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_018718.3(CEP41):c.*2481T>A rs528289176 0.00051
NM_015910.7(WDPCP):c.-113C>A rs192963932 0.00050
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr) rs35496754 0.00049
NM_018718.3(CEP41):c.*2896G>A rs147207980 0.00048
NM_018718.3(CEP41):c.*1534T>C rs149912245 0.00047
NM_018718.3(CEP41):c.*1567A>C rs139085191 0.00047
NM_024753.5(TTC21B):c.*516C>T rs185578095 0.00047
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455 0.00046
NM_001384732.1(CPLANE1):c.7920C>T (p.Ser2640=) rs141486731 0.00045
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272 0.00041
NM_017777.4(MKS1):c.*134C>T rs34224064 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_001369.3(DNAH5):c.13125+10T>A rs2277047 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_015102.5(NPHP4):c.3045-5C>T rs2297790 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_017950.4(CCDC40):c.*633C>G rs117359231 0.00036
NM_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066 0.00034
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 0.00033
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln) rs184555568 0.00033
NM_153717.3(EVC):c.*2125T>G rs139771274 0.00033
NM_015272.5(RPGRIP1L):c.*1033G>A rs145688122 0.00032
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024 0.00031
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_198428.3(BBS9):c.*444G>A rs75625812 0.00030
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_001199397.3(NEK1):c.*1222T>G rs543801862 0.00028
NM_018718.3(CEP41):c.*392G>A rs528501184 0.00026
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00026
NM_014714.4(IFT140):c.*2G>A rs144879630 0.00025
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00021
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613 0.00021
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_001384732.1(CPLANE1):c.82-14G>A rs180804052 0.00019
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_001199397.3(NEK1):c.-504T>C rs550632789 0.00017
NM_001377.3(DYNC2H1):c.12457-13T>C rs537890566 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=) rs144553338 0.00016
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680 0.00016
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193 0.00016
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001173990.2(TMEM216):c.-86G>A rs188478638 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 0.00014
NM_001173990.2(TMEM216):c.-135T>C rs183785901 0.00013
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_178452.6(DNAAF1):c.1030+14C>T rs202113269 0.00012
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg) rs4150188 0.00012
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met) rs146828513 0.00011
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336 0.00009
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001173990.2(TMEM216):c.-91G>A rs557559653 0.00009
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_018718.3(CEP41):c.*1336A>G rs781954428 0.00007
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_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_001384732.1(CPLANE1):c.1136C>T (p.Thr379Met) rs373606997 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701 0.00004
NM_000549.5(TSHB):c.223A>G (p.Arg75Gly) rs201857310 0.00003
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001394148.2(LOC128706665):c.-22+2430T>G rs377246386 0.00003
NM_014714.4(IFT140):c.*429C>T rs192256907 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 0.00003
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=) rs529083217 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_001010892.3(RSPH4A):c.*8A>G rs575857124 0.00001
NM_001128178.3(NPHP1):c.-17G>A rs566875282 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr) rs577165880 0.00001
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys) rs543224510 0.00001
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693 0.00001
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_031885.3(BBS2):c.-199A>T rs569642995 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_033028.5(BBS4):c.*522A>G rs531501103 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_000152.5(GAA):c.-75C>G rs80020206
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser) rs199736888
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001277115.2(DNAH11):c.11202+7C>A rs73279826
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile) rs12537531
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=) rs56333627
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=) rs6965750
NM_001278293.3(ARL6):c.-27-1461A>T rs143739859
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.4807C>A (p.Pro1603Thr) rs369137751
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7540+14G>T rs115273161
NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala) rs750493624
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=) rs886038613
NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp) rs886056304
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr) rs886038615
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001384732.1(CPLANE1):c.*423C>G rs190089842
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_002408.4(MGAT2):c.-351G>T rs116136260
NM_006642.5(SDCCAG8):c.*97G>A rs554190542
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015120.4(ALMS1):c.-39CTC[4] rs746980000
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_018718.2(CEP41):c.-178C>T rs10230670
NM_018719.5(CDCA7L):c.*879G>C rs62445901
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_020779.4(WDR35):c.*573A>T rs140069324
NM_020779.4(WDR35):c.*998A>G rs530093062
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_031427.4(DNAL1):c.*6015_*6016del rs10594595
NM_031427.4(DNAL1):c.*6163_*6164insTGCACG rs1555340583
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_152259.4(TICRR):c.*911dup rs113145397
NM_153717.3(EVC):c.*1314G>A rs567979829
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_170784.3(MKKS):c.-649+2202_-649+2204dup rs143825746
NM_181426.2(CCDC39):c.1363-13del rs374074877
NM_181426.2(CCDC39):c.1363-23dup rs374074877
NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr) rs561458801
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413

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