List of variants reported as not provided for ciliopathy

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 92

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)	rs61747071	0.04969
NM_016616.4(NME8):c.271-27C>T	rs117149381	0.01739
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)	rs62542664	0.00104
NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val)	rs200158571	0.00076
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu)	rs112700048	0.00068
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)	rs144206271	0.00067
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	rs555421894	0.00053
NM_012144.4(DNAI1):c.48+2dup	rs397515363	0.00050
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)	rs141098495	0.00048
NM_080860.4(RSPH1):c.275-2A>C	rs151107532	0.00048
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)	rs141440865	0.00041
NM_017950.4(CCDC40):c.248del (p.Ala83fs)	rs397515393	0.00029
NM_025114.4(CEP290):c.2991+1655A>G	rs281865192	0.00029
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)	rs202004152	0.00024
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_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00021
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)	rs138815960	0.00021
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)	rs760909426	0.00020
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)	rs137880855	0.00014
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)	rs200321595	0.00011
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)	rs201740530	0.00010
NM_018051.5(DYNC2I1):c.2905G>A (p.Val969Met)	rs377727599	0.00009
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter)	rs749421099	0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)	rs553968087	0.00007
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)	rs373638043	0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)	rs139675596	0.00006
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)	rs138320978	0.00006
NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr)	rs565501407	0.00004
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys)	rs760906097	0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)	rs141507441	0.00004
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr)	rs773981726	0.00004
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter)	rs137852998	0.00004
NM_014714.4(IFT140):c.4041-5G>A	rs754813435	0.00003
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)	rs118204043	0.00002
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)	rs118204041	0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)	rs367543061	0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)	rs367543063	0.00002
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln)	rs552938001	0.00002
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)	rs121918300	0.00002
NM_020800.3(IFT80):c.2225T>A (p.Leu742His)	rs763284318	0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)	rs758991387	0.00002
NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)	rs118204042	0.00001
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)	rs515726134	0.00001
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter)	rs797045085	0.00001
NM_001329943.3(KIAA0586):c.2932_2944+4del	rs1278372009	0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)	rs397515541	0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)	rs771663107	0.00001
NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile)	rs765931519	0.00001
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys)	rs1243181452	0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A	rs367543062	0.00001
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro)	rs397514596	0.00001
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs)	rs397515424	0.00001
NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)	rs544674332	0.00001
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)	rs515726136	0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)	rs878855095	0.00001
NM_001010892.3(RSPH4A):c.1662+2_1662+5del	rs768986129
NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)	rs797045147
NM_001082538.3(TCTN1):c.1494+1G>A	rs1165243207
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	rs201108965
NM_001174150.2(ARL13B):c.836A>T (p.Lys279Ile)	rs2076889650
NM_001277115.2(DNAH11):c.11288_11289dup (p.Ile3764fs)	rs1562590250
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)	rs121908854
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp)	rs543921060
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)	rs1554562278
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs)	rs1188561908
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs)	rs367543064
NM_003114.5(SPAG1):c.902_906del (p.Lys301fs)	rs797045149
NM_012144.4(DNAI1):c.2001+1G>A	rs397515563
NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter)	rs141945265
NM_012472.6(DNAAF11):c.576dup (p.Glu193fs)	rs397515425
NM_012472.6(DNAAF11):c.630del (p.Trp210fs)	rs760123202
NM_014704.4(CEP104):c.52G>A (p.Gly18Ser)
NM_015896.4(ZMYND10):c.292C>A (p.Gln98Lys)
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	rs754279998
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro)	rs397514561
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)	rs587777047
NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs)	rs397515341
NM_018139.3(DNAAF2):c.1208G>A (p.Cys403Tyr)
NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter)	rs137853191
NM_018139.3(DNAAF2):c.31del (p.Glu11fs)	rs797045146
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)	rs515726135
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)	rs387907021
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)	rs587777059
NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter)	rs587777780
NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter)	rs587777779
NM_153614.4(DNAJB13):c.173-1G>A	rs1565171522
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)	rs397515339
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)	rs267607227

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