ClinVar Miner

List of variants reported as uncertain significance 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: 82
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.8798-5G>A rs189821372 0.00292
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser) rs544372581 0.00250
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg) rs201157338 0.00159
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His) rs201261243 0.00129
NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys) rs149452352 0.00121
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu) rs185011953 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser) rs201510850 0.00064
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys) rs200459402 0.00051
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser) rs72657342 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_021147.5(CCNO):c.187T>C (p.Ser63Pro) rs377241996 0.00047
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly) rs199789835 0.00042
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335 0.00042
NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser) rs201260214 0.00034
NM_001369.3(DNAH5):c.975+6C>T rs151000177 0.00029
NM_001377.3(DYNC2H1):c.5335-11T>G rs181963253 0.00029
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217 0.00029
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp) rs772439717 0.00019
NM_001256715.2(DNAAF3):c.469C>T (p.Arg157Cys) rs369116839 0.00016
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00016
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00015
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_001010892.3(RSPH4A):c.1828C>T (p.Arg610Trp) rs149268378 0.00009
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn) rs199600077 0.00009
NM_001277115.2(DNAH11):c.11506G>A (p.Val3836Ile) rs767109418 0.00008
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe) rs187863107 0.00008
NM_001277115.2(DNAH11):c.6664C>G (p.Arg2222Gly) rs773498002 0.00006
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn) rs572852817 0.00006
NM_033124.5(CCDC65):c.1297C>T (p.Arg433Trp) rs138929942 0.00006
NM_145045.5(ODAD3):c.1435-5C>A rs371246808 0.00006
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001377.3(DYNC2H1):c.8218A>G (p.Thr2740Ala) rs768871834 0.00004
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) rs755871858 0.00004
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.6700A>T (p.Thr2234Ser) rs370888884 0.00003
NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met) rs757110526 0.00003
NM_001377.3(DYNC2H1):c.2719T>C (p.Cys907Arg) rs534081459 0.00002
NM_018139.3(DNAAF2):c.404G>A (p.Ser135Asn) rs759580456 0.00002
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr) rs1263482357 0.00002
NM_001277115.2(DNAH11):c.6817G>A (p.Val2273Ile) rs772793348 0.00001
NM_001377.3(DYNC2H1):c.12317T>C (p.Leu4106Ser) rs369591902 0.00001
NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His) rs201484896 0.00001
NM_001134831.2(AHI1):c.*1A>C
NM_001134831.2(AHI1):c.3109+6788A>C
NM_001190787.3(MCIDAS):c.120+2dup
NM_001190787.3(MCIDAS):c.121-19C>A rs181955833
NM_001277115.2(DNAH11):c.1997C>A (p.Ala666Asp)
NM_001277115.2(DNAH11):c.9436G>C (p.Glu3146Gln)
NM_001369.3(DNAH5):c.11029G>T (p.Val3677Leu) rs2126690194
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)
NM_001377.3(DYNC2H1):c.10606-14A>G rs989023092
NM_001377.3(DYNC2H1):c.12109T>G (p.Ser4037Ala)
NM_001377.3(DYNC2H1):c.5930T>C (p.Ile1977Thr) rs2134994345
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu) rs199675558
NM_001377.3(DYNC2H1):c.9050T>C (p.Leu3017Pro) rs2135150032
NM_001377.3(DYNC2H1):c.9425C>T (p.Ser3142Leu)
NM_001481.3(GAS8):c.1146G>C (p.Glu382Asp)
NM_018076.5(ODAD2):c.1592T>G (p.Ile531Ser) rs370164015
NM_052844.4(DYNC2I2):c.296C>T (p.Pro99Leu) rs2132156076
NM_145038.5(DRC1):c.116G>C (p.Arg39Pro)

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