ClinVar Miner

List of variants studied for ciliopathy by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001206927.2(DNAH8):c.13381C>T (p.Arg4461Cys) rs143714496 0.00205
NM_001206927.2(DNAH8):c.2174C>G (p.Ala725Gly) rs61757621 0.00170
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn) rs148883126 0.00138
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val) rs143443167 0.00104
NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val) rs201386161 0.00089
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val) rs200158571 0.00076
NM_130810.4(DNAAF4):c.4C>T (p.Pro2Ser) rs143493699 0.00075
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001206927.2(DNAH8):c.7774C>T (p.Arg2592Trp) rs113332942 0.00064
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter) rs146551804 0.00058
NM_033124.5(CCDC65):c.680A>G (p.Gln227Arg) rs149640178 0.00058
NM_015512.5(DNAH1):c.5740G>A (p.Glu1914Lys) rs199740667 0.00056
NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser) rs187533108 0.00053
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_080860.4(RSPH1):c.859C>T (p.Arg287Cys) rs143552625 0.00049
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_015512.5(DNAH1):c.7646A>G (p.Asn2549Ser) rs199694029 0.00041
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) rs141226759 0.00039
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met) rs199719583 0.00037
NM_015512.5(DNAH1):c.8048G>A (p.Arg2683Gln) rs77451372 0.00035
NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val) rs185283741 0.00034
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu) rs371668705 0.00033
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_213607.3(CCDC103):c.473C>T (p.Ala158Val) rs148834205 0.00028
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00025
NM_001372.4(DNAH9):c.7169A>C (p.Gln2390Pro) rs139937259 0.00025
NM_031924.8(RSPH3):c.1082T>G (p.Leu361Arg) rs138781661 0.00025
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val) rs376875223 0.00024
NM_001206927.2(DNAH8):c.5185A>C (p.Lys1729Gln) rs148767488 0.00022
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) rs201944089 0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_145038.5(DRC1):c.215G>C (p.Ser72Thr) rs149398412 0.00022
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) rs187993089 0.00021
NM_181426.2(CCDC39):c.1555C>A (p.His519Asn) rs374289303 0.00020
NM_018139.3(DNAAF2):c.332G>C (p.Arg111Pro) rs549781788 0.00019
NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val) rs377319302 0.00017
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_017950.4(CCDC40):c.1949A>G (p.Asn650Ser) rs201064110 0.00014
NM_178452.6(DNAAF1):c.1852C>T (p.Arg618Trp) rs369294412 0.00014
NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys) rs145772007 0.00012
NM_001206927.2(DNAH8):c.12974G>A (p.Arg4325Gln) rs368532934 0.00011
NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile) rs186358036 0.00011
NM_001277115.2(DNAH11):c.6118C>T (p.Arg2040Cys) rs199772877 0.00011
NM_001277115.2(DNAH11):c.7980A>C (p.Gln2660His) rs752284064 0.00011
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00011
NM_015896.4(ZMYND10):c.1291G>A (p.Val431Ile) rs201258677 0.00011
NM_001277115.2(DNAH11):c.11678C>T (p.Thr3893Met) rs763843747 0.00010
NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met) rs368578923 0.00010
NM_001372.4(DNAH9):c.13364A>G (p.Gln4455Arg) rs200749236 0.00010
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His) rs201293301 0.00010
NM_001010892.3(RSPH4A):c.2021A>G (p.Glu674Gly) rs368369580 0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036 0.00009
NM_001372.4(DNAH9):c.2965C>T (p.Arg989Trp) rs765666122 0.00007
NM_178452.6(DNAAF1):c.1957G>A (p.Glu653Lys) rs201034372 0.00007
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu) rs142302585 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_015512.5(DNAH1):c.10976A>G (p.Asn3659Ser) rs376694884 0.00006
NM_015512.5(DNAH1):c.6293G>A (p.Arg2098His) rs373906923 0.00006
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln) rs376927687 0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216 0.00005
NM_001206927.2(DNAH8):c.11563+1G>T rs776791493 0.00004
NM_001277115.2(DNAH11):c.13310G>A (p.Arg4437His) rs775606157 0.00004
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His) rs756069405 0.00004
NM_001481.3(GAS8):c.490C>T (p.Arg164Trp) rs151099141 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_012144.4(DNAI1):c.335C>G (p.Pro112Arg) rs201313023 0.00004
NM_015512.5(DNAH1):c.11667_11668insC (p.Asp3890fs) rs765688686 0.00004
NM_018139.3(DNAAF2):c.1391G>A (p.Gly464Asp) rs1024449397 0.00004
NM_031924.8(RSPH3):c.-120C>A rs140068249 0.00004
NM_145045.5(ODAD3):c.568C>G (p.Leu190Val) rs770832815 0.00004
NM_213607.3(CCDC103):c.710A>G (p.Glu237Gly) rs759937836 0.00004
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs) rs762267064 0.00003
NM_015512.5(DNAH1):c.77T>C (p.Val26Ala) rs772550201 0.00003
NM_015896.4(ZMYND10):c.832C>T (p.Arg278Cys) rs372975420 0.00003
NM_017802.4(DNAAF5):c.1582G>T (p.Ala528Ser) rs747552520 0.00003
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) rs201213030 0.00003
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) rs201173498 0.00003
NM_001277115.2(DNAH11):c.8317G>T (p.Gly2773Cys) rs569296562 0.00002
NM_001369.3(DNAH5):c.12604G>A (p.Gly4202Ser) rs748903850 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_015512.5(DNAH1):c.1469A>G (p.His490Arg) rs1449951214 0.00002
NM_017802.4(DNAAF5):c.694G>A (p.Gly232Ser) rs369123218 0.00002
NM_018076.5(ODAD2):c.521T>C (p.Leu174Pro) rs767173014 0.00002
NM_021147.5(CCNO):c.553_554del (p.Ile185fs) rs1745611424 0.00002
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly) rs1222240619 0.00001
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg) rs749852225 0.00001
NM_001206927.2(DNAH8):c.112A>T (p.Thr38Ser) rs778551218 0.00001
NM_001206927.2(DNAH8):c.2056A>C (p.Ile686Leu) rs376309134 0.00001
NM_001206927.2(DNAH8):c.2420G>A (p.Arg807Gln) rs1325804996 0.00001
NM_001277115.2(DNAH11):c.13445G>C (p.Arg4482Thr) rs191791959 0.00001
NM_001277115.2(DNAH11):c.3173C>A (p.Ala1058Asp) rs756753955 0.00001
NM_001277115.2(DNAH11):c.6983+1G>A rs771953930 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.13054C>T (p.Arg4352Trp) rs530188302 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.3314A>G (p.Asn1105Ser) rs371783309 0.00001
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter) rs769260126 0.00001
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg) rs771328747 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001372.4(DNAH9):c.1051T>C (p.Ser351Pro) rs770389199 0.00001
NM_001372.4(DNAH9):c.3527T>C (p.Leu1176Pro) rs1343045787 0.00001
NM_001372.4(DNAH9):c.5602C>T (p.Pro1868Ser) rs145930162 0.00001
NM_001372.4(DNAH9):c.8870_8871del (p.Pro2957fs) rs749364709 0.00001
NM_003114.5(SPAG1):c.208C>G (p.Pro70Ala) rs1468747674 0.00001
NM_003611.3(OFD1):c.1111G>A (p.Asp371Asn) rs373202088 0.00001
NM_015512.5(DNAH1):c.10664C>T (p.Ser3555Leu) rs369548008 0.00001
NM_015512.5(DNAH1):c.11376C>A (p.Asn3792Lys) rs768178830 0.00001
NM_015512.5(DNAH1):c.12426C>G (p.Ile4142Met) rs1374164718 0.00001
NM_015512.5(DNAH1):c.409G>A (p.Gly137Arg) rs770952001 0.00001
NM_015512.5(DNAH1):c.4702A>G (p.Thr1568Ala) rs753046775 0.00001
NM_015512.5(DNAH1):c.8713A>G (p.Ile2905Val) rs199519687 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_017950.4(CCDC40):c.775G>A (p.Ala259Thr) rs1301593481 0.00001
NM_017950.4(CCDC40):c.940-2A>G rs750708201 0.00001
NM_018076.5(ODAD2):c.394C>A (p.Pro132Thr) rs760457381 0.00001
NM_181426.2(CCDC39):c.331A>G (p.Ile111Val) rs368618125 0.00001
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs) rs1775758975
NM_001010892.3(RSPH4A):c.1817C>G (p.Pro606Arg) rs138413282
NM_001010892.3(RSPH4A):c.1838C>G (p.Ser613Ter) rs1775776645
NM_001010892.3(RSPH4A):c.236C>T (p.Thr79Ile) rs1775512553
NM_001010892.3(RSPH4A):c.842A>G (p.Tyr281Cys) rs1775634033
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001034853.2(RPGR):c.1954G>A (p.Glu652Lys) rs2147200398
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter) rs1291689114
NM_001206927.2(DNAH8):c.11364G>C (p.Glu3788Asp) rs2150578050
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe) rs146505940
NM_001206927.2(DNAH8):c.4610G>T (p.Arg1537Leu) rs375507271
NM_001206927.2(DNAH8):c.4847A>T (p.Asp1616Val) rs943252271
NM_001206927.2(DNAH8):c.8267A>G (p.Asn2756Ser) rs2150476745
NM_001277115.2(DNAH11):c.10051C>G (p.Leu3351Val) rs376710623
NM_001277115.2(DNAH11):c.11999C>A (p.Thr4000Asn) rs1783570244
NM_001277115.2(DNAH11):c.13184G>A (p.Arg4395Gln) rs368249392
NM_001277115.2(DNAH11):c.1372C>T (p.His458Tyr) rs1783831610
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.7525G>A (p.Val2509Ile) rs1259559217
NM_001277115.2(DNAH11):c.9826T>G (p.Leu3276Val) rs781418836
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe) rs138045391
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu) rs753367747
NM_001369.3(DNAH5):c.4094del (p.Ser1365fs) rs1769229991
NM_001369.3(DNAH5):c.4373G>T (p.Arg1458Leu) rs61747551
NM_001369.3(DNAH5):c.4702del (p.Arg1568fs) rs1554081658
NM_001369.3(DNAH5):c.4959G>C (p.Lys1653Asn) rs1207203971
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro) rs780320440
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5757del (p.Gln1919fs) rs1764868213
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter) rs1270916321
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs) rs1757084798
NM_001369.3(DNAH5):c.8982T>G (p.Asp2994Glu) rs773014523
NM_001369.3(DNAH5):c.9845A>G (p.Glu3282Gly)
NM_001372.4(DNAH9):c.10124C>G (p.Thr3375Arg)
NM_001372.4(DNAH9):c.308del (p.Phe103fs) rs769795916
NM_001372.4(DNAH9):c.7183C>T (p.Arg2395Trp) rs760224758
NM_001377.3(DYNC2H1):c.8283del (p.Phe2761fs) rs1862810311
NM_003114.5(SPAG1):c.401C>G (p.Ser134Ter) rs934869420
NM_003611.3(OFD1):c.2236C>G (p.Leu746Val) rs1184006962
NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter) rs2047909739
NM_003611.3(OFD1):c.2358_2372del (p.Val787_Pro791del) rs2147052534
NM_012144.4(DNAI1):c.1163G>T (p.Cys388Phe) rs767667443
NM_012144.4(DNAI1):c.1866_1873del (p.Gln623fs) rs1825188115
NM_012472.6(DNAAF11):c.354_355del (p.Phe119fs) rs1821475039
NM_015512.5(DNAH1):c.10317C>G (p.Ile3439Met)
NM_015512.5(DNAH1):c.10394A>G (p.Asn3465Ser) rs375477856
NM_015512.5(DNAH1):c.10919T>C (p.Met3640Thr) rs1578204270
NM_015512.5(DNAH1):c.11539G>C (p.Asp3847His) rs763059648
NM_015512.5(DNAH1):c.2929A>T (p.Asn977Tyr) rs1702436070
NM_015512.5(DNAH1):c.3431_3432delinsAT (p.Ser1144Asn) rs1702487234
NM_015512.5(DNAH1):c.5445_5457delinsT (p.Glu1815_Tyr1819delinsAsp) rs1703011374
NM_015512.5(DNAH1):c.8677A>G (p.Ile2893Val) rs1704102151
NM_015896.4(ZMYND10):c.87del (p.Glu30fs) rs1703516483
NM_017950.4(CCDC40):c.1258C>G (p.Gln420Glu)
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.3094G>C (p.Glu1032Gln) rs2038828283
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_018076.5(ODAD2):c.2125C>G (p.Leu709Val)
NM_018076.5(ODAD2):c.2531G>C (p.Trp844Ser) rs1843702025
NM_021147.5(CCNO):c.40G>T (p.Ala14Ser) rs1745666050
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu) rs199726930
NM_023036.6(DNAI2):c.892A>C (p.Ser298Arg) rs2144035001
NM_033124.5(CCDC65):c.1204G>A (p.Glu402Lys) rs1008405856
NM_130810.4(DNAAF4):c.784-1037_894-2012del
NM_145045.5(ODAD3):c.1021G>T (p.Ala341Ser) rs1408368135
NM_145045.5(ODAD3):c.514G>C (p.Val172Leu) rs1969393130
NM_145045.5(ODAD3):c.98C>A (p.Ser33Ter) rs1969627663
NM_153614.4(DNAJB13):c.106T>G (p.Ser36Ala) rs144741417
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
NM_213607.3(CCDC103):c.571T>C (p.Cys191Arg) rs2051580311

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