ClinVar Miner

List of variants reported as benign for ciliopathy by Genome-Nilou Lab

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 547
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.7805+13A>G rs770284 0.99996
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_001352754.2(ARMC9):c.538A>G (p.Ile180Val) rs1626450 0.99989
NM_024649.5(BBS1):c.-72C>G rs1791688 0.99902
NM_016169.4(SUFU):c.*20T>G rs4917980 0.99823
NM_004311.4(ARL3):c.264+49_264+50del rs59504153 0.99810
NM_145038.5(DRC1):c.1195T>C (p.Trp399Arg) rs939820 0.99790
NM_001270974.2(HYDIN):c.7364C>A (p.Pro2455Gln) rs1798531 0.99691
NM_052844.4(DYNC2I2):c.178T>G (p.Trp60Gly) rs4837292 0.99672
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_024753.5(TTC21B):c.430-42C>T rs10930190 0.99611
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_198428.3(BBS9):c.1330-62C>T rs9785054 0.99266
NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=) rs6963535 0.99232
NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys) rs2709859 0.99194
NM_001372.4(DNAH9):c.1334A>G (p.Gln445Arg) rs9892256 0.99167
NM_017802.4(DNAAF5):c.905+107T>C rs62432212 0.98810
NM_017950.4(CCDC40):c.207G>C (p.Val69=) rs2289527 0.98631
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97670
NM_000549.5(TSHB):c.40A>G (p.Thr14Ala) rs10776792 0.97659
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97575
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_014714.4(IFT140):c.2768+184A>G rs2745178 0.97367
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_025132.4(WDR19):c.603+23C>T rs1451817 0.96807
NM_014714.4(IFT140):c.3270+19T>C rs2745176 0.96626
NM_014956.5(CEP164):c.4299G>T (p.Ser1433=) rs522885 0.96045
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333 0.95849
NM_033028.5(BBS4):c.1036+114G>A rs9806635 0.95845
NM_023036.6(DNAI2):c.1722+78G>A rs1979371 0.95718
NM_023036.6(DNAI2):c.345+27A>G rs6501706 0.95682
NM_033028.5(BBS4):c.1248+68G>A rs12324395 0.95651
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692 0.94841
NM_002645.4(PIK3C2A):c.1239A>G (p.Ala413=) rs2302511 0.94735
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.76+19G>T rs4777527 0.94399
NM_001377.3(DYNC2H1):c.9107+34G>A rs670464 0.93561
NM_014956.5(CEP164):c.1482T>C (p.Pro494=) rs897836 0.93246
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_014704.4(CEP104):c.1836+7A>G rs6413779 0.91575
NM_014704.4(CEP104):c.744A>G (p.Glu248=) rs1891941 0.91572
NM_014704.4(CEP104):c.1837-28G>C rs2275826 0.91566
NM_152384.3(BBS5):c.-40G>C rs1879466 0.90865
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_198075.4(LRRC56):c.1182-22T>C rs3740652 0.89233
NM_198075.4(LRRC56):c.*23C>G rs10902172 0.89042
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814 0.87820
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_198075.4(LRRC56):c.423+30C>G rs11246180 0.85979
NM_018051.5(DYNC2I1):c.2547-22_2547-21insC rs34181207 0.85394
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_018051.5(DYNC2I1):c.2073A>G (p.Lys691=) rs2730238 0.85247
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_023036.6(DNAI2):c.1722+41C>T rs4239009 0.84832
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=) rs6505592 0.84626
NM_001378183.1(PIEZO2):c.2492+48del rs3830641 0.84419
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001378183.1(PIEZO2):c.4708+18C>T rs5024299 0.83716
NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=) rs7227167 0.83322
NM_017802.4(DNAAF5):c.1257+13A>G rs34761279 0.83091
NM_017802.4(DNAAF5):c.*139A>G rs62432897 0.83080
NM_052844.4(DYNC2I2):c.309T>C (p.Tyr103=) rs2298045 0.82136
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=) rs7407105 0.81713
NM_001378183.1(PIEZO2):c.3451-28T>C rs2865119 0.81541
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=) rs6665951 0.79936
NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala) rs10224537 0.79851
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_198075.4(LRRC56):c.1567G>C (p.Asp523His) rs10902171 0.79385
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_001277115.2(DNAH11):c.3630G>A (p.Gln1210=) rs3827657 0.78845
NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=) rs7241380 0.78175
NM_016616.5(NME8):c.622T>C (p.Cys208Arg) rs10250905 0.77615
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr) rs1979370 0.77449
NM_017802.4(DNAAF5):c.1932-67T>C rs4719279 0.77396
NM_198075.4(LRRC56):c.384C>T (p.Leu128=) rs7942030 0.77229
NM_017802.4(DNAAF5):c.2432-40T>C rs67721251 0.77187
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_018051.5(DYNC2I1):c.2372-9C>T rs2244789 0.76494
NM_017802.4(DNAAF5):c.906-4T>G rs6943337 0.76245
NM_023036.6(DNAI2):c.1722+34G>A rs4239008 0.75821
NM_001177701.3(IFT27):c.174+21G>A rs1048012 0.75738
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_016004.5(IFT52):c.159G>A (p.Val53=) rs2664519 0.74971
NM_001372.4(DNAH9):c.6330C>T (p.Asn2110=) rs3744578 0.73791
NM_001134831.2(AHI1):c.10+115C>A rs9402709 0.73311
NM_015650.4(TRAF3IP1):c.69C>A (p.Thr23=) rs13398676 0.72529
NM_052844.4(DYNC2I2):c.873C>T (p.Thr291=) rs4837291 0.72271
NM_001277115.2(DNAH11):c.11298T>C (p.His3766=) rs4722067 0.72158
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_001375405.1(CEP120):c.2826T>C (p.Asp942=) rs1047438 0.71935
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71871
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NM_001378183.1(PIEZO2):c.7952+33C>T rs487037 0.70798
NM_052844.4(DYNC2I2):c.627G>A (p.Gln209=) rs10760570 0.70085
NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro) rs784133 0.69639
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001277115.2(DNAH11):c.12493A>G (p.Met4165Val) rs6461613 0.69063
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.69017
NM_003114.5(SPAG1):c.1688+42T>C rs2919471 0.68499
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68248
NM_014704.4(CEP104):c.2151+43A>G rs2275832 0.67501
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_014704.4(CEP104):c.2662+62A>G rs6703035 0.67052
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_145038.5(DRC1):c.1397-15A>G rs4072407 0.66267
NM_030578.4(B9D2):c.214+25T>G rs11668109 0.66244
NM_017950.4(CCDC40):c.2450-89A>C rs11150839 0.65974
NM_017950.4(CCDC40):c.2450-53G>A rs11150840 0.65886
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_014704.4(CEP104):c.2663-91G>A rs4233019 0.65061
NM_014704.4(CEP104):c.2663-22A>G rs4648409 0.65055
NM_001044385.3(TMEM237):c.274+23A>G rs1208081 0.64988
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051 0.64838
NM_017802.4(DNAAF5):c.2228G>A (p.Arg743Lys) rs3922641 0.64560
NM_014804.3(KIAA0753):c.*21A>G rs3744720 0.64487
NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg) rs1443417 0.64459
NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro) rs2289642 0.64436
NM_001378183.1(PIEZO2):c.4514+32C>T rs8093389 0.64387
NM_003114.5(SPAG1):c.2330T>C (p.Met777Thr) rs6511 0.64386
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
NM_017802.4(DNAAF5):c.2083-31G>A rs34943122 0.64150
NM_016616.5(NME8):c.1544+22G>A rs10261071 0.63994
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=) rs8096037 0.63926
NM_001277115.2(DNAH11):c.7776C>T (p.His2592=) rs1109806 0.63800
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_006651.4(CPLX1):c.32-112A>G rs2306250 0.62923
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_014804.3(KIAA0753):c.1716T>C (p.Ala572=) rs4796519 0.61864
NM_017802.4(DNAAF5):c.1932-35G>A rs62432869 0.61848
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_183065.4(TMEM107):c.256+46C>G rs8064449 0.61047
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_017868.4(TTC12):c.504+8G>A rs2303380 0.60533
NM_015693.4(INTU):c.813G>A (p.Thr271=) rs4833380 0.59996
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_080860.4(RSPH1):c.727+46G>A rs11702140 0.59955
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_198075.4(LRRC56):c.899G>A (p.Arg300His) rs4963198 0.59216
NM_030578.4(B9D2):c.-4-40C>G rs2241713 0.59207
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_001277115.2(DNAH11):c.11691-19A>G rs4995598 0.58246
NM_153614.4(DNAJB13):c.279T>C (p.His93=) rs653263 0.57865
NM_002645.4(PIK3C2A):c.*13T>C rs10832733 0.57555
NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu) rs4722064 0.57409
NM_015681.6(B9D1):c.472+28C>T rs4924987 0.57381
NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly) rs2502726 0.57263
NM_020779.4(WDR35):c.25-46G>A rs3731663 0.57247
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_015910.7(WDPCP):c.1624+24T>A rs2138796 0.56759
NM_032930.3(CFAP300):c.192+59A>C rs7934495 0.56242
NM_015681.6(B9D1):c.63+23G>A rs10445411 0.56182
NM_015693.4(INTU):c.471A>G (p.Arg157=) rs3749507 0.55539
NM_001369.3(DNAH5):c.13724-35T>A rs2166337 0.55064
NM_014956.5(CEP164):c.766-36T>A rs2305826 0.54836
NM_001377.3(DYNC2H1):c.12156+23G>A rs2671333 0.54518
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913 0.54510
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161 0.54502
NM_033028.5(BBS4):c.643-102T>C rs6495015 0.54330
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.53777
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_018076.5(ODAD2):c.1387-42T>C rs34084011 0.53358
NM_001277115.2(DNAH11):c.7901A>G (p.Asn2634Ser) rs9639393 0.53316
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=) rs7543730 0.53314
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val) rs3734110 0.53284
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=) rs6879219 0.52860
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=) rs35578653 0.52425
NM_016343.4(CENPF):c.8186G>A (p.Arg2729Gln) rs335524 0.51917
NM_012472.6(DNAAF11):c.695C>T (p.Thr232Ile) rs2293979 0.51887
NM_001378454.1(ALMS1):c.11873-12T>C rs1320374 0.51648
NM_025132.4(WDR19):c.3716+46dup rs11096989 0.51347
NM_025132.4(WDR19):c.3841-27T>C rs12648082 0.51304
NM_018076.5(ODAD2):c.2058T>C (p.Asn686=) rs7893462 0.51292
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51121
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_016343.4(CENPF):c.8827A>G (p.Arg2943Gly) rs438034 0.51075
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.50676
NM_023036.6(DNAI2):c.1062A>G (p.Glu354=) rs8073660 0.50668
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997 0.50396
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn) rs2289643 0.49475
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_001243156.2(TAF1C):c.*1064G>A rs8692 0.49327
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=) rs7703349 0.48933
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=) rs3734111 0.48605
NM_018051.5(DYNC2I1):c.2778+36T>A rs2657331 0.48169
NM_130810.4(DNAAF4):c.572A>G (p.Glu191Gly) rs600753 0.47545
NM_015662.3(IFT172):c.2116-31T>C rs780107 0.47348
NM_015662.3(IFT172):c.1829+12G>A rs1647276 0.47329
NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) rs573455 0.47249
NM_016616.5(NME8):c.1247+25A>G rs2242027 0.47134
NM_023036.6(DNAI2):c.1347+7C>T rs2290955 0.46912
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_018076.5(ODAD2):c.1387-40C>T rs34717952 0.46114
NM_016616.5(NME8):c.1140-10T>G rs1530822 0.45910
NM_001277115.2(DNAH11):c.705C>T (p.Asn235=) rs10950854 0.45869
NM_014714.4(IFT140):c.3454-48A>G rs932391 0.45637
NM_198428.3(BBS9):c.*110C>T rs1050721 0.45573
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=) rs4615458 0.44959
NM_012144.4(DNAI1):c.1489+130G>A rs9657620 0.44707
NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val) rs2285944 0.44667
NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter) rs2285943 0.44658
NM_012144.4(DNAI1):c.902-125G>T rs4878575 0.44633
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val) rs30168 0.44440
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_001375405.1(CEP120):c.816C>T (p.His272=) rs6876883 0.44294
NM_018051.5(DYNC2I1):c.818A>G (p.Gln273Arg) rs2788478 0.43909
NM_014714.4(IFT140):c.148-22A>T rs2236269 0.43860
NM_017802.4(DNAAF5):c.1895T>C (p.Val632Ala) rs4720951 0.43572
NM_017802.4(DNAAF5):c.1784-1298C>G rs6946758 0.43082
NM_001277115.2(DNAH11):c.6469-17A>G rs1023542 0.43069
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_002645.4(PIK3C2A):c.3681+46G>A rs2052188 0.42654
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_001277115.2(DNAH11):c.6274-13T>G rs2965401 0.42569
NM_002645.4(PIK3C2A):c.270T>C (p.Ile90=) rs214936 0.42543
NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=) rs12536928 0.42173
NM_006642.5(SDCCAG8):c.-47T>A rs3904682 0.41725
NM_001372.4(DNAH9):c.10243-26G>A rs7211854 0.41639
NM_001394966.1(NEK10):c.1674A>G (p.Gly558=) rs674303 0.41443
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011 0.41204
NM_001369.3(DNAH5):c.192+14C>G rs1530497 0.41173
NM_198428.3(BBS9):c.*103T>C rs1050719 0.40841
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782 0.40522
NM_024753.5(TTC21B):c.2138+48G>A rs7590559 0.40515
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838 0.40153
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=) rs30169 0.40053
NM_001270974.2(HYDIN):c.-82A>T rs12449210 0.40012
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486 0.39967
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972 0.39950
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu) rs1530496 0.39883
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837 0.39736
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=) rs6554827 0.39500
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_017868.4(TTC12):c.217A>C (p.Met73Leu) rs723077 0.39224
NM_001369.3(DNAH5):c.12910-11C>T rs30175 0.39090
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_014704.4(CEP104):c.2152-11C>T rs6663840 0.38899
NM_001372.4(DNAH9):c.10855T>C (p.Leu3619=) rs8070256 0.38845
NM_001270974.2(HYDIN):c.4475C>A (p.Pro1492His) rs78763837 0.38686
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162 0.38498
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836 0.38173
NM_014804.3(KIAA0753):c.69C>T (p.Ser23=) rs2301873 0.38122
NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr) rs2214326 0.38066
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg) rs17856705 0.37821
NM_015662.3(IFT172):c.3915T>A (p.Ser1305=) rs56076827 0.37673
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_001369.3(DNAH5):c.5114+11T>C rs6554820 0.37240
NM_014714.4(IFT140):c.-31-52T>A rs743963 0.36752
NM_001481.3(GAS8):c.597A>G (p.Glu199=) rs868045 0.36742
NM_023036.6(DNAI2):c.-11-67A>G rs3803792 0.36694
NM_001378183.1(PIEZO2):c.7190+29A>G rs11661737 0.36619
NM_016343.4(CENPF):c.2890C>T (p.Leu964=) rs3795521 0.36604
NM_016343.4(CENPF):c.33G>A (p.Gly11=) rs2070064 0.36558
NM_001277115.2(DNAH11):c.4945-34A>G rs11769118 0.36553
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_001378183.1(PIEZO2):c.6976-47G>C rs868525 0.36451
NM_001378183.1(PIEZO2):c.7349+7C>T rs3748422 0.36363
NM_152773.5(DYNLT2B):c.113+17C>G rs2270769 0.36200
NM_016343.4(CENPF):c.7186A>G (p.Asn2396Asp) rs3748697 0.36093
NM_001372.4(DNAH9):c.429C>T (p.Pro143=) rs11078022 0.35841
NM_018051.5(DYNC2I1):c.2094+24A>G rs6459913 0.35665
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
NM_001372.4(DNAH9):c.9247-17G>A rs3744585 0.35370
NM_001369.3(DNAH5):c.9721-12A>T rs12655133 0.35219
NM_017950.4(CCDC40):c.553-41A>G rs7207441 0.34994
NM_017950.4(CCDC40):c.676+13T>C rs7212525 0.34974
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34838
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34782
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_017868.4(TTC12):c.827-16T>G rs10891537 0.34454
NM_014714.4(IFT140):c.*59T>C rs1053730 0.34440
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala) rs10269582 0.34362
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_025132.4(WDR19):c.3183+16A>G rs11096987 0.33074
NM_023036.6(DNAI2):c.865-5A>G rs8076337 0.32904
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile) rs2275824 0.32901
NM_033124.5(CCDC65):c.398A>G (p.His133Arg) rs10747556 0.32513
NM_080860.4(RSPH1):c.393G>A (p.Ala131=) rs2839536 0.32419
NM_033124.5(CCDC65):c.933A>G (p.Arg311=) rs10875893 0.32404
NM_033124.5(CCDC65):c.1176C>A (p.Thr392=) rs10875894 0.32390
NM_033124.5(CCDC65):c.1223A>G (p.Tyr408Cys) rs4760600 0.32366
NM_080860.4(RSPH1):c.-43C>T rs1573413 0.32304
NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp) rs9889363 0.32226
NM_017950.4(CCDC40):c.3180+45A>G rs59252872 0.32210
NM_001372.4(DNAH9):c.9247-14C>T rs3744586 0.32085
NM_023036.6(DNAI2):c.865-81C>T rs34880269 0.31881
NM_006346.4(PIBF1):c.499A>G (p.Ile167Val) rs1372000 0.31812
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=) rs6554812 0.30832
NM_001369.3(DNAH5):c.10102-29C>T rs6554813 0.30675
NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile) rs7234309 0.30463
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164 0.30436
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776 0.30410
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391 0.29753
NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=) rs2277860 0.29299
NM_003114.5(SPAG1):c.2715G>A (p.Ser905=) rs1788190 0.28744
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu) rs2304977 0.28533
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser) rs2305830 0.28431
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala) rs12120084 0.28388
NM_016616.5(NME8):c.177C>T (p.Asp59=) rs2598044 0.28287
NM_001394966.1(NEK10):c.-37-9A>C rs12494966 0.28273
NM_016616.5(NME8):c.128G>A (p.Arg43Lys) rs2722372 0.28270
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_001378183.1(PIEZO2):c.1379-47T>C rs56112279 0.27943
NM_001378183.1(PIEZO2):c.1528-41T>C rs6505594 0.27928
NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=) rs3748421 0.27525
NM_015631.6(TCTN3):c.1204-43T>C rs17461546 0.27142
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=) rs7227022 0.26688
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_006642.5(SDCCAG8):c.1473+48dup rs398050192 0.26150
NM_016343.4(CENPF):c.1482C>G (p.His494Gln) rs2070065 0.26083
NM_016343.4(CENPF):c.4543G>A (p.Ala1515Thr) rs2666839 0.25667
NM_001378183.1(PIEZO2):c.7349+31A>C rs3748423 0.25652
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_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=) rs10057007 0.25350
NM_001277115.2(DNAH11):c.13162+23C>A rs55714084 0.25104
NM_024649.5(BBS1):c.1180+116T>C rs3819247 0.24920
NM_198525.3(KIF7):c.3319-30A>C rs72750748 0.24857
NM_014714.4(IFT140):c.4041-44T>C rs2076434 0.24775
NM_002645.4(PIK3C2A):c.3036-37C>A rs147891939 0.24758
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155 0.23716
NM_001394966.1(NEK10):c.1791T>C (p.Asn597=) rs10510594 0.23526
NM_001394966.1(NEK10):c.1538T>C (p.Leu513Ser) rs10510592 0.23482
NM_001394966.1(NEK10):c.2010C>A (p.Thr670=) rs11129280 0.23477
NM_014714.4(IFT140):c.147+109G>A rs7192480 0.23445
NM_001394966.1(NEK10):c.2247C>G (p.Val749=) rs17680166 0.23262
NM_001394966.1(NEK10):c.2869+140C>T rs17854381 0.23113
NM_001394966.1(NEK10):c.2505+22G>T rs11926556 0.22899
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_014956.5(CEP164):c.281G>A (p.Ser94Asn) rs490262 0.21761
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_015631.6(TCTN3):c.1453-28A>G rs12784530 0.21461
NM_024649.5(BBS1):c.518+55C>T rs2276406 0.21160
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_024649.5(BBS1):c.1608+95C>T rs2305532 0.21152
NM_198075.4(LRRC56):c.729G>A (p.Pro243=) rs35537971 0.20649
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_001372.4(DNAH9):c.6584A>G (p.Asn2195Ser) rs3744581 0.20356
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_001378183.1(PIEZO2):c.2947-36G>A rs7507093 0.20120
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln) rs4796901 0.20035
NM_016343.4(CENPF):c.5310T>A (p.His1770Gln) rs3748693 0.20011
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter) rs57809907 0.18601
NM_017950.4(CCDC40):c.3022-48C>T rs72849388 0.18249
NM_018051.5(DYNC2I1):c.1921+24A>G rs10279428 0.18135
NM_001372.4(DNAH9):c.2929-18G>A rs73975043 0.17999
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_023036.6(DNAI2):c.1483G>A (p.Val495Ile) rs28725418 0.17848
NM_018051.5(DYNC2I1):c.2976C>T (p.Val992=) rs34634437 0.16768
NM_001377.3(DYNC2H1):c.11256+18C>T rs11225674 0.16562
NM_031885.5(BBS2):c.613-54C>G rs4784675 0.16235
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val) rs2288021 0.16102
NM_198428.3(BBS9):c.263+39A>G rs17169881 0.15964
NM_015512.5(DNAH1):c.11402G>A (p.Gly3801Asp) rs12163565 0.15635
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) rs9297853 0.15619
NM_012144.4(DNAI1):c.1019+42C>T rs10814116 0.15511
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg) rs12670130 0.14853
NM_018051.5(DYNC2I1):c.1137+23T>C rs842703 0.14437
NM_006346.4(PIBF1):c.672+38G>A rs9543124 0.14429
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu) rs3795958 0.14109
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192 0.13807
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700 0.13432
NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg) rs117385282 0.13197
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116 0.13007
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_023036.6(DNAI2):c.834C>T (p.Thr278=) rs34159194 0.12850
NM_014956.5(CEP164):c.1935-5C>G rs897837 0.12409
NM_023036.6(DNAI2):c.610+31G>A rs62065707 0.12287
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys) rs62441683 0.11359
NM_002645.4(PIK3C2A):c.4243A>G (p.Thr1415Ala) rs11604561 0.11089
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_016343.4(CENPF):c.3097G>A (p.Gly1033Arg) rs3795518 0.10931
NM_016343.4(CENPF):c.1806A>G (p.Leu602=) rs2070066 0.10927
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_023036.6(DNAI2):c.467+77G>T rs12452656 0.10701
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_017950.4(CCDC40):c.873C>T (p.Phe291=) rs2289531 0.09951
NM_025103.4(IFT74):c.1790C>T (p.Thr597Ile) rs3429 0.09433
NM_025103.4(IFT74):c.254A>G (p.Lys85Arg) rs11555693 0.09345
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_031885.5(BBS2):c.-42T>G rs78076550 0.07623
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_001199397.3(NEK1):c.607-3T>C rs55679731 0.07330
NM_016343.4(CENPF):c.6032A>C (p.Glu2011Ala) rs3790647 0.07277
NM_018076.5(ODAD2):c.1028T>C (p.Ile343Thr) rs4405206 0.07261
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_016343.4(CENPF):c.5933A>G (p.Asp1978Gly) rs3790646 0.07126
NM_016343.4(CENPF):c.5302G>A (p.Asp1768Asn) rs3748692 0.07122
NM_016343.4(CENPF):c.7386A>G (p.Glu2462=) rs3748698 0.07116
NM_016343.4(CENPF):c.7067C>T (p.Ala2356Val) rs3748696 0.07113
NM_016343.4(CENPF):c.7581G>A (p.Leu2527=) rs3790648 0.07113
NM_016343.4(CENPF):c.7611T>C (p.Leu2537=) rs3790649 0.07111
NM_016343.4(CENPF):c.6415G>A (p.Ala2139Thr) rs3748695 0.07107
NM_016343.4(CENPF):c.6674A>G (p.Gln2225Arg) rs12058704 0.07101
NM_016343.4(CENPF):c.2260C>G (p.Gln754Glu) rs3795523 0.06854
NM_016343.4(CENPF):c.3314C>T (p.Thr1105Ile) rs12067133 0.06848
NM_016343.4(CENPF):c.3052T>G (p.Tyr1018Asp) rs3795519 0.06847
NM_016343.4(CENPF):c.4461T>G (p.Leu1487=) rs3795516 0.06845
NM_016343.4(CENPF):c.4235T>C (p.Leu1412Ser) rs3795517 0.06844
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=) rs56064008 0.06017
NM_030578.4(B9D2):c.*18G>A rs1800468 0.05927
NM_025103.4(IFT74):c.165A>G (p.Ile55Met) rs10812505 0.05909
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_016343.4(CENPF):c.6131C>T (p.Ser2044Leu) rs7533166 0.03766
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_001372.4(DNAH9):c.8808C>T (p.Asn2936=) rs117790039 0.03365
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334 0.02549
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529 0.02103
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_183065.4(TMEM107):c.87+22A>C rs78413898 0.01477
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) rs61732031 0.01115
NM_016343.4(CENPF):c.5635C>T (p.Arg1879Cys) rs61732022 0.01110
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_025132.4(WDR19):c.3261+12G>A rs137960733 0.00076
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722 0.00044
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713 0.00006
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_001134831.2(AHI1):c.2037-77G>A rs737561
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3:c.432-11_432-10insA
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) rs890872
NM_001277115.2(DNAH11):c.11691-20dup rs5882827
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.7626G>A (p.Thr2542=) rs2072221
NM_001277115.2(DNAH11):c.8797+23T>C rs4355679
NM_001277115.2(DNAH11):c.9102+20G>A rs60554135
NM_001321218.2(B9D1):c.*61C>T rs11652712
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001352754.2(ARMC9):c.2205dup (p.Thr736fs) rs35889244
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001372.4(DNAH9):c.11014C>A (p.Arg3672=) rs112905609
NM_001372.4(DNAH9):c.3369T>C (p.Asp1123=) rs8071438
NM_001372.4(DNAH9):c.9744C>G (p.Pro3248=) rs12449553
NM_001377.3(DYNC2H1):c.3574-8del rs5794210
NM_001378183.1(PIEZO2):c.2170-19_2170-18del rs11468237
NM_001378183.1(PIEZO2):c.7953-9del rs5823112
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580
NM_001394966.1(NEK10):c.2061C>G (p.Thr687=) rs3213930
NM_001481.3(GAS8):c.*9dup rs3833069
NM_001481.3(GAS8):c.1395A>G (p.Thr465=) rs3743825
NM_003114.5(SPAG1):c.1338C>G (p.Ala446=) rs2514681
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_005427.4(TP73):c.-20C>T
NM_005427.4(TP73):c.519C>T (p.Thr173=)
NM_005427.4(TP73):c.985+15A>G
NM_014704.4(CEP104):c.558G>A (p.Thr186=) rs2275822
NM_014804.3(KIAA0753):c.507T>C (p.Ser169=) rs2072149
NM_015512.5(DNAH1):c.11495= (p.Arg3832=) rs1704644099
NM_015662.3(IFT172):c.2877+48T>G rs780106
NM_016008.4(DYNC2LI1):c.98T>C (p.Phe33Ser) rs2288709
NM_016343.4(CENPF):c.2101A>G (p.Met701Val) rs3795524
NM_016343.4(CENPF):c.2444G>A (p.Arg815His) rs3795522
NM_016343.4(CENPF):c.9318C>G (p.Asn3106Lys) rs7289
NM_017802.4(DNAAF5):c.1615-101G>A rs4495324
NM_017802.4(DNAAF5):c.2082+32C>G rs6973746
NM_017802.4(DNAAF5):c.906-125T>G rs6943174
NM_017868.4(TTC12):c.1816+30T>C rs719802
NM_018051.5(DYNC2I1):c.313_315del (p.Lys105del) rs3833679
NM_018076.5(ODAD2):c.1743+31T>G rs3824590
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_023036.6(DNAI2):c.724+158G>A rs9905633
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_030578.4(B9D2):c.-4-60_-4-59insT rs3217387
NM_032930.3(CFAP300):c.110+16A>G rs12804542
NM_145038.5(DRC1):c.495T>G (p.Ala165=) rs7423300
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_198075.4(LRRC56):c.1400G>A (p.Arg467Gln) rs12793222
NM_198075.4(LRRC56):c.1519C>G (p.Arg507Gly) rs10902170
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066

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