ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 15

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 216
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.207G>C (p.Val69=) rs2289527 0.98631
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_017950.4(CCDC40):c.2450-89A>C rs11150839 0.65974
NM_017950.4(CCDC40):c.2450-53G>A rs11150840 0.65886
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=) rs35578653 0.52425
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
NM_017950.4(CCDC40):c.*149T>C rs2304852 0.48973
NM_017950.4(CCDC40):c.*186A>C rs2304851 0.38175
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) rs56407805 0.35335
NM_017950.4(CCDC40):c.553-41A>G rs7207441 0.34994
NM_017950.4(CCDC40):c.676+13T>C rs7212525 0.34974
NM_017950.4(CCDC40):c.3180+45A>G rs59252872 0.32210
NM_017950.4(CCDC40):c.677-4C>G rs2289530 0.19337
NM_017950.4(CCDC40):c.1159+12C>T rs2289533 0.19106
NM_017950.4(CCDC40):c.3022-48C>T rs72849388 0.18249
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met) rs60684213 0.11874
NM_017950.4(CCDC40):c.873C>T (p.Phe291=) rs2289531 0.09951
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val) rs61749058 0.08699
NM_017950.4(CCDC40):c.507G>A (p.Ser169=) rs2885349 0.05290
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=) rs61734950 0.04617
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=) rs1982243 0.02985
NM_017950.4(CCDC40):c.504G>A (p.Pro168=) rs74000351 0.02786
NM_017950.4(CCDC40):c.*654A>C rs2289538 0.02366
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=) rs61749027 0.01818
NM_017950.4(CCDC40):c.*265C>T rs74000393 0.01774
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr) rs61998241 0.01690
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=) rs74692882 0.01622
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile) rs61739354 0.01613
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=) rs116824266 0.01523
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_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_017950.4(CCDC40):c.1441-18C>G rs181295177 0.00530
NM_017950.4(CCDC40):c.630C>T (p.Ser210=) rs117419007 0.00481
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn) rs150615436 0.00414
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00395
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223 0.00301
NM_017950.4(CCDC40):c.2236-15G>A rs148674510 0.00295
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=) rs145013523 0.00203
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406 0.00200
NM_017950.4(CCDC40):c.*383G>A rs114892048 0.00193
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_017950.4(CCDC40):c.856-18G>A rs189118723 0.00151
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_017950.4(CCDC40):c.1562+2018C>T rs562415439 0.00092
NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val) rs201126001 0.00081
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_017950.4(CCDC40):c.*220C>T rs538221665 0.00066
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) rs72849355 0.00054
NM_017950.4(CCDC40):c.*202T>C rs539904864 0.00048
NM_017950.4(CCDC40):c.552G>A (p.Leu184=) rs141588728 0.00044
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met) rs563467821 0.00039
NM_017950.4(CCDC40):c.*17C>T rs202179507 0.00038
NM_017950.4(CCDC40):c.*633C>G rs117359231 0.00036
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=) rs375199947 0.00034
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser) rs201739201 0.00031
NM_017950.4(CCDC40):c.1109G>A (p.Arg370His) rs77027689 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys) rs2289532 0.00028
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501 0.00025
NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn) rs370948871 0.00024
NM_017950.4(CCDC40):c.384A>G (p.Ala128=) rs375586063 0.00024
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr) rs185157579 0.00022
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) rs187993089 0.00021
NM_017950.4(CCDC40):c.1456G>A (p.Asp486Asn) rs375800869 0.00020
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) rs377219039 0.00020
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln) rs200902434 0.00019
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile) rs200292678 0.00018
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile) rs200701665 0.00016
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp) rs200551690 0.00016
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=) rs202075842 0.00016
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn) rs201815496 0.00016
NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys) rs758247990 0.00016
NM_017950.4(CCDC40):c.*18G>A rs746718107 0.00013
NM_017950.4(CCDC40):c.*199G>A rs886053536 0.00012
NM_017950.4(CCDC40):c.*706T>C rs373188258 0.00012
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His) rs373746597 0.00012
NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp) rs201858385 0.00012
NM_017950.4(CCDC40):c.1221C>T (p.Ile407=) rs760734578 0.00011
NM_017950.4(CCDC40):c.3021+13G>A rs762011731 0.00011
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys) rs199850214 0.00010
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys) rs202220442 0.00010
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His) rs201293301 0.00010
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=) rs79588289 0.00010
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=) rs372856318 0.00010
NM_017950.4(CCDC40):c.966C>T (p.Ala322=) rs369089505 0.00010
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr) rs371071557 0.00009
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met) rs200902099 0.00009
NM_017950.4(CCDC40):c.1806+15G>A rs767093580 0.00008
NM_017950.4(CCDC40):c.28C>G (p.Arg10Gly) rs377599647 0.00008
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln) rs369512832 0.00008
NM_017950.4(CCDC40):c.763G>C (p.Glu255Gln) rs763892619 0.00008
NM_017950.4(CCDC40):c.2423T>C (p.Met808Thr) rs780626544 0.00007
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met) rs376363442 0.00006
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His) rs373717036 0.00006
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=) rs374909386 0.00006
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=) rs571288423 0.00005
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=) rs573028412 0.00005
NM_017950.4(CCDC40):c.3250G>A (p.Val1084Met) rs546314844 0.00005
NM_017950.4(CCDC40):c.994T>C (p.Tyr332His) rs371604414 0.00005
NM_017950.4(CCDC40):c.*342G>A rs886053537 0.00004
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys) rs761769193 0.00004
NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu) rs369066468 0.00004
NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln) rs572093892 0.00004
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala) rs760951742 0.00004
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_017950.4(CCDC40):c.*415G>A rs886053539 0.00003
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His) rs757879326 0.00003
NM_017950.4(CCDC40):c.2038G>C (p.Asp680His) rs765976507 0.00003
NM_017950.4(CCDC40):c.2936G>A (p.Arg979His) rs760027732 0.00003
NM_017950.4(CCDC40):c.3262C>T (p.Arg1088Cys) rs766993149 0.00003
NM_017950.4(CCDC40):c.*663C>T rs886053540 0.00002
NM_017950.4(CCDC40):c.1440+15C>T rs779133902 0.00002
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu) rs367596393 0.00002
NM_017950.4(CCDC40):c.2832+360C>T rs1567813319 0.00002
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=) rs199575834 0.00002
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His) rs142135083 0.00002
NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln) rs114740534 0.00002
NM_017950.4(CCDC40):c.*517G>C rs967873995 0.00001
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys) rs758068198 0.00001
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) rs371595543 0.00001
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser) rs2289526 0.00001
NM_017950.4(CCDC40):c.1645G>A (p.Glu549Lys) rs1414723148 0.00001
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn) rs202093340 0.00001
NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys) rs948532763 0.00001
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln) rs759468416 0.00001
NM_017950.4(CCDC40):c.2070A>C (p.Ala690=) rs758677009 0.00001
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val) rs376911979 0.00001
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln) rs755608579 0.00001
NM_017950.4(CCDC40):c.2832+4A>T rs756602466 0.00001
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile) rs775788498 0.00001
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter) rs1312712049 0.00001
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val) rs369522039 0.00001
NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met) rs374932269 0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304 0.00001
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro) rs778612110 0.00001
NM_017950.4(CCDC40):c.388G>A (p.Asp130Asn) rs758879011 0.00001
NM_017950.4(CCDC40):c.608G>A (p.Arg203His) rs764262876 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NM_000152.5(GAA):c.-325C>T rs1402918119
NM_000152.5(GAA):c.-75C>G rs80020206
NM_017950.4(CCDC40):c.*190A>G rs886053535
NM_017950.4(CCDC40):c.*201G>A rs1371835117
NM_017950.4(CCDC40):c.*347C>T rs886053538
NM_017950.4(CCDC40):c.*681T>C rs2038901677
NM_017950.4(CCDC40):c.1054C>T (p.His352Tyr) rs763452738
NM_017950.4(CCDC40):c.1096C>G (p.Leu366Val)
NM_017950.4(CCDC40):c.1266_1281dup (p.Glu428fs)
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter) rs775299709
NM_017950.4(CCDC40):c.1315C>T (p.Gln439Ter) rs387907091
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_017950.4(CCDC40):c.1416del (p.Ile473fs) rs764011276
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=) rs200154414
NM_017950.4(CCDC40):c.1481G>A (p.Arg494His)
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu) rs368929374
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.1544C>T (p.Ala515Val) rs774455448
NM_017950.4(CCDC40):c.1562+2003C>A
NM_017950.4(CCDC40):c.1896C>T (p.Ile632=) rs886053534
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter) rs387907092
NM_017950.4(CCDC40):c.1974G>A (p.Lys658=) rs777997435
NM_017950.4(CCDC40):c.2026C>T (p.Gln676Ter)
NM_017950.4(CCDC40):c.2096_2104del (p.Asp699_Asp701del)
NM_017950.4(CCDC40):c.2236-213_2832+2269del
NM_017950.4(CCDC40):c.2257dup (p.Glu753fs) rs2143748349
NM_017950.4(CCDC40):c.2476C>T (p.Gln826Ter)
NM_017950.4(CCDC40):c.2619+45G>A rs1225389709
NM_017950.4(CCDC40):c.2699del (p.Leu900fs)
NM_017950.4(CCDC40):c.2711+11G>T rs1434924240
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
NM_017950.4(CCDC40):c.2778C>T (p.Ser926=)
NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp) rs587778819
NM_017950.4(CCDC40):c.2832+297G>T rs1187849857
NM_017950.4(CCDC40):c.2832+306G>T rs1435853783
NM_017950.4(CCDC40):c.2832+332_2832+395del rs1567813101
NM_017950.4(CCDC40):c.2832+395dup rs1216169899
NM_017950.4(CCDC40):c.2832+461_2832+462insCCA
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu) rs61686936
NM_017950.4(CCDC40):c.2926G>C (p.Glu976Gln) rs761440789
NM_017950.4(CCDC40):c.298del (p.Thr100fs) rs2037232562
NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs) rs1278589861
NM_017950.4(CCDC40):c.3058G>T (p.Glu1020Ter)
NM_017950.4(CCDC40):c.3092_3093dup (p.Glu1032Ter) rs2143781646
NM_017950.4(CCDC40):c.3103G>A (p.Glu1035Lys)
NM_017950.4(CCDC40):c.3129del (p.Phe1044fs) rs1418585908
NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His) rs200145777
NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs) rs1567819753
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu) rs368814379
NM_017950.4(CCDC40):c.3G>A (p.Met1Ile) rs2143550064
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter) rs1568667609
NM_017950.4(CCDC40):c.466G>A (p.Val156Ile)
NM_017950.4(CCDC40):c.511C>A (p.Gln171Lys) rs2143578223
NM_017950.4(CCDC40):c.552+5G>A rs2037242772
NM_017950.4(CCDC40):c.553-6C>A rs758045878
NM_017950.4(CCDC40):c.595G>C (p.Gly199Arg)
NM_017950.4(CCDC40):c.676+2_676+3dup rs756160039
NM_017950.4(CCDC40):c.798del (p.Ser267fs)
NM_017950.4(CCDC40):c.833dup (p.Val279fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.