ClinVar Miner

List of variants reported as benign for ciliopathy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391 0.20605
NM_181426.2(CCDC39):c.1528-43A>G rs73051767 0.13950
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046 0.09802
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234 0.05873
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_001481.3(GAS8):c.-7T>G rs80287915 0.03946
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069 0.03191
NM_001364171.2(ODAD1):c.247C>T (p.Arg83Trp) rs16981988 0.03160
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_017950.4(CCDC40):c.504G>A (p.Pro168=) rs74000351 0.02786
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_033124.5(CCDC65):c.1415G>A (p.Arg472His) rs80052257 0.02693
NM_145045.5(ODAD3):c.921C>T (p.Arg307=) rs61739937 0.02630
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_001369.3(DNAH5):c.58-13T>C rs115758625 0.02407
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001364171.2(ODAD1):c.598-5C>A rs10416590 0.02325
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_031924.8(RSPH3):c.35C>T (p.Ala12Val) rs61750777 0.02290
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_003114.5(SPAG1):c.1536-9C>G rs112884253 0.02211
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr) rs72655969 0.02191
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=) rs74451896 0.02161
NM_018076.5(ODAD2):c.1272C>T (p.Ser424=) rs111982349 0.02074
NM_145045.5(ODAD3):c.614C>T (p.Thr205Ile) rs35061520 0.02018
NM_001289104.2(PRKCSH):c.-78+38T>C rs160913 0.01869
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_031924.8(RSPH3):c.1024G>A (p.Glu342Lys) rs12204826 0.01824
NM_031924.8(RSPH3):c.767G>A (p.Arg256Gln) rs10455840 0.01819
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=) rs61749027 0.01818
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
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_152732.5(RSPH9):c.671-4259C>T rs41281830 0.01763
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_001364171.2(ODAD1):c.1071G>A (p.Glu357=) rs79967289 0.01703
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr) rs61998241 0.01690
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_001364171.2(ODAD1):c.1632C>T (p.Ala544=) rs73585332 0.01673
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_001364171.2(ODAD1):c.1737C>T (p.Pro579=) rs13346323 0.01656
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_001277115.2(DNAH11):c.6835-19A>G rs77931784 0.01620
NM_031924.8(RSPH3):c.303A>G (p.Thr101=) rs34756688 0.01596
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_031924.8(RSPH3):c.-220C>A rs41267757 0.01586
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=) rs116824266 0.01523
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_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371 0.01466
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=) rs72657372 0.01452
NM_178452.6(DNAAF1):c.352+17G>C rs142704524 0.01446
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_017802.4(DNAAF5):c.921C>A (p.Ser307Arg) rs113374052 0.01381
NM_001277115.2(DNAH11):c.6547-5C>G rs115200161 0.01380
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_001277115.2(DNAH11):c.6683+13C>G rs17145077 0.01337
NM_001277115.2(DNAH11):c.9337-9T>C rs72657378 0.01332
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_001277115.2(DNAH11):c.8317-16C>G rs76300792 0.01285
NM_001277115.2(DNAH11):c.9102+8G>A rs72657374 0.01255
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=) rs59499600 0.01236
NM_001277115.2(DNAH11):c.11059A>G (p.Lys3687Glu) rs72657402 0.01226
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_145045.5(ODAD3):c.424C>G (p.Leu142Val) rs61739927 0.01197
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_145045.5(ODAD3):c.729C>T (p.Asn243=) rs11879596 0.01155
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
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_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=) rs4889815 0.00968
NM_001364171.2(ODAD1):c.1636G>A (p.Ala546Thr) rs114111020 0.00957
NM_001369.3(DNAH5):c.12280-17T>C rs10214399 0.00956
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) rs34879202 0.00942
NM_001369.3(DNAH5):c.5484+17T>C rs16902828 0.00937
NM_001364171.2(ODAD1):c.2027G>A (p.Ser676Asn) rs74351635 0.00931
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_001377.3(DYNC2H1):c.4968+18G>A rs144263658 0.00894
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met) rs114601492 0.00882
NM_001256715.2(DNAAF3):c.-5+5G>T rs114393069 0.00871
NM_001364171.2(ODAD1):c.1672G>A (p.Ala558Thr) rs115124604 0.00870
NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=) rs150362958 0.00844
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696 0.00818
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_001377.3(DYNC2H1):c.1485+19G>A rs111375449 0.00764
NM_003114.5(SPAG1):c.1586T>C (p.Met529Thr) rs78436093 0.00763
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_145045.5(ODAD3):c.173T>C (p.Phe58Ser) rs61741137 0.00754
NM_001364171.2(ODAD1):c.1214G>A (p.Arg405Gln) rs73585360 0.00719
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556 0.00689
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_018076.5(ODAD2):c.717G>A (p.Pro239=) rs150780082 0.00675
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_018076.5(ODAD2):c.1743+11G>A rs74127161 0.00653
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00649
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00642
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val) rs114292876 0.00632
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514 0.00612
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858 0.00606
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076 0.00599
NM_001364171.2(ODAD1):c.1275C>T (p.Asp425=) rs35930441 0.00595
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=) rs113537035 0.00594
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_015896.4(ZMYND10):c.1073A>G (p.Gln358Arg) rs114329675 0.00540
NM_017950.4(CCDC40):c.1441-18C>G rs181295177 0.00530
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe) rs61736879 0.00529
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=) rs76833922 0.00476
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_001277115.2(DNAH11):c.4501-7A>T rs62447794 0.00461
NM_001377.3(DYNC2H1):c.6477+14A>T rs111970770 0.00460
NM_031427.4(DNAL1):c.153-12G>C rs201880561 0.00436
NM_001277115.2(DNAH11):c.6041+18T>C rs72657336 0.00425
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_001364171.2(ODAD1):c.185G>A (p.Arg62His) rs7248372 0.00372
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106 0.00365
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545 0.00344
NM_018076.5(ODAD2):c.2610+11A>G rs111710872 0.00343
NM_181426.2(CCDC39):c.930+12C>G rs1401333 0.00338
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941 0.00285
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00229
NM_020800.3(IFT80):c.777+20A>G rs192387448 0.00217
NM_018076.5(ODAD2):c.2496-12G>T rs182886953 0.00195
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00172
NM_001377.3(DYNC2H1):c.1661+16T>C rs187129481 0.00164
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646 0.00161
NM_033124.5(CCDC65):c.1180-8A>C rs192209412 0.00144
NM_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu) rs181843638 0.00127
NM_080860.4(RSPH1):c.727+19del rs144909525 0.00118
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00113
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu) rs398123604
NM_001277115.2(DNAH11):c.13263G>C (p.Pro4421=) rs72658834
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=) rs2072221
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_016616.5(NME8):c.1007G>A (p.Arg336His) rs62001869
NM_031924.8(RSPH3):c.992A>C (p.His331Pro) rs78116655

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