ClinVar Miner

List of variants reported as benign for ciliopathy by Natera, Inc.

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 279
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814 0.87820
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr) rs1979370 0.77449
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161 0.54502
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val) rs3734110 0.53284
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=) rs1445823 0.53068
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
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_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
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_023036.6(DNAI2):c.1347+7C>T rs2290955 0.46912
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val) rs30168 0.44440
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=) rs3213936 0.43495
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782 0.40522
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=) rs10041113 0.40226
NM_001369.3(DNAH5):c.5115-5T>C rs4429853 0.40224
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=) rs1348689 0.40167
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_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_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162 0.38498
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836 0.38173
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34838
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala) rs1530498 0.34505
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_023036.6(DNAI2):c.865-5A>G rs8076337 0.32904
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=) rs6554812 0.30832
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776 0.30410
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=) rs10057007 0.25350
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155 0.23716
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391 0.20605
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
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_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192 0.13807
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700 0.13432
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116 0.13007
NM_023036.6(DNAI2):c.834C>T (p.Thr278=) rs34159194 0.12850
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10451
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046 0.09802
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371 0.09713
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077 0.06714
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360 0.06109
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_023036.6(DNAI2):c.1053G>A (p.Thr351=) rs34392071 0.04853
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437 0.03898
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680 0.03656
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_001369.3(DNAH5):c.6444+8A>G rs1348690 0.02931
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077 0.02877
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=) rs34580014 0.02846
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02757
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=) rs111995400 0.02321
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His) rs35900306 0.02307
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061 0.02260
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744 0.02246
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=) rs74451896 0.02161
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=) rs10077457 0.02135
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114 0.02099
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166 0.01778
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052 0.01769
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069 0.01749
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851 0.01669
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
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_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693 0.01292
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=) rs59499600 0.01236
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_012144.4(DNAI1):c.978A>C (p.Gln326His) rs16931555 0.01063
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_001369.3(DNAH5):c.6061+10A>G rs77957856 0.00962
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_001369.3(DNAH5):c.6579+20G>A rs115382993 0.00928
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696 0.00818
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_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057 0.00713
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=) rs140498500 0.00702
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
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_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=) rs77477793 0.00527
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_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001369.3(DNAH5):c.5707C>T (p.Leu1903=) rs7719896 0.00439
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_001369.3(DNAH5):c.6062-4G>A rs143392650 0.00433
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_023036.6(DNAI2):c.124G>A (p.Val42Met) rs151176313 0.00389
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr) rs145798624 0.00383
NM_023036.6(DNAI2):c.759G>A (p.Ala253=) rs142656395 0.00370
NM_001369.3(DNAH5):c.12465A>G (p.Gln4155=) rs34924315 0.00359
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_012144.4(DNAI1):c.639G>A (p.Thr213=) rs78865254 0.00348
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941 0.00285
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
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_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427 0.00146
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981 0.00076
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298 0.00069
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=) rs2279122 0.00066
NM_001369.3(DNAH5):c.2578-10T>G rs756212532 0.00065
NM_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00050
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722 0.00044
NM_001369.3(DNAH5):c.13125+10T>A rs2277047 0.00039
NM_031885.5(BBS2):c.2079G>A (p.Gln693=) rs150797250 0.00034
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser) rs201469505 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750 0.00019
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs) rs1553396120 0.00018
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met) rs146828513 0.00011
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713 0.00006
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 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_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.12298+5G>A rs371853987 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=) rs532450170 0.00001
NM_024649.5(BBS1):c.433-5C>T rs542052064 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_001173990.3(TMEM216):c.*6A>G rs541341560
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.2578-10_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-11_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-25dup rs71600031
NM_001369.3(DNAH5):c.2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-8_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg) rs549156484
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=) rs756959656
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=) rs569208946
NM_017777.4(MKS1):c.52C>A (p.Arg18=) rs557896607
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=) rs9908476
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile) rs200300023
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_153717.3(EVC):c.2562-4C>G rs60082311

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