ClinVar Miner

List of variants in gene CCDC40 studied for Ciliary dyskinesia, primary, 15

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
Download table as spreadsheet
HGVS dbSNP
NM_017950.4(CCDC40):c.*17C>T rs202179507
NM_017950.4(CCDC40):c.*18G>A rs746718107
NM_017950.4(CCDC40):c.*190A>G rs886053535
NM_017950.4(CCDC40):c.*199G>A rs886053536
NM_017950.4(CCDC40):c.*201G>A
NM_017950.4(CCDC40):c.*202T>C rs539904864
NM_017950.4(CCDC40):c.*220C>T rs538221665
NM_017950.4(CCDC40):c.*342G>A rs886053537
NM_017950.4(CCDC40):c.*347C>T rs886053538
NM_017950.4(CCDC40):c.*383G>A rs114892048
NM_017950.4(CCDC40):c.*415G>A rs886053539
NM_017950.4(CCDC40):c.*517G>C
NM_017950.4(CCDC40):c.*633C>G rs117359231
NM_017950.4(CCDC40):c.*663C>T rs886053540
NM_017950.4(CCDC40):c.*681T>C
NM_017950.4(CCDC40):c.*706T>C
NM_017950.4(CCDC40):c.1054C>T (p.His352Tyr)
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His) rs373746597
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr) rs371071557
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=) rs74692882
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys) rs2289532
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys)
NM_017950.4(CCDC40):c.1159+12C>T rs2289533
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile) rs200701665
NM_017950.4(CCDC40):c.1221C>T (p.Ile407=) rs760734578
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=) rs375199947
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=) rs145013523
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) rs371595543
NM_017950.4(CCDC40):c.1315C>T (p.Gln439Ter) rs387907091
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=) rs61734950
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) rs187993089
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser) rs2289526
NM_017950.4(CCDC40):c.1440+15C>T rs779133902
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=) rs116824266
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr) rs185157579
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile) rs61739354
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=) rs200154414
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met) rs200902099
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser) rs201739201
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His) rs757879326
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.1673C>G (p.Thr558Arg) rs191736683
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406
NM_017950.4(CCDC40):c.1806+15G>A rs767093580
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=) rs571288423
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met) rs376363442
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val) rs61749058
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=) rs35578653
NM_017950.4(CCDC40):c.1896C>T (p.Ile632=) rs886053534
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp) rs200551690
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
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.2017G>A (p.Asp673Asn) rs115850223
NM_017950.4(CCDC40):c.2038G>C (p.Asp680His)
NM_017950.4(CCDC40):c.2070A>C (p.Ala690=)
NM_017950.4(CCDC40):c.207G>C (p.Val69=) rs2289527
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=) rs72849355
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp) rs377219039
NM_017950.4(CCDC40):c.2236-15G>A rs148674510
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys) rs199850214
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met) rs60684213
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=) rs202075842
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly) rs139435501
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val)
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys) rs202220442
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln) rs755608579
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=) rs61749027
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His)
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu) rs367596393
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=) rs4889815
NM_017950.4(CCDC40):c.2711+11G>T
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944
NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp) rs587778819
NM_017950.4(CCDC40):c.2832+332_2832+395del rs1567813101
NM_017950.4(CCDC40):c.2832+4A>T rs756602466
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=)
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=) rs1982243
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951
NM_017950.4(CCDC40):c.28C>G (p.Arg10Gly)
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.290A>G (p.Tyr97Cys)
NM_017950.4(CCDC40):c.2926G>C (p.Glu976Gln) rs761440789
NM_017950.4(CCDC40):c.2936G>A (p.Arg979His)
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=)
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile) rs775788498
NM_017950.4(CCDC40):c.3021+13G>A
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=) rs79588289
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093
NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met)
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His) rs773033304
NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His)
NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs) rs1567819753
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu) rs368814379
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro) rs778612110
NM_017950.4(CCDC40):c.384A>G (p.Ala128=) rs375586063
NM_017950.4(CCDC40):c.388G>A (p.Asp130Asn) rs758879011
NM_017950.4(CCDC40):c.504G>A (p.Pro168=) rs74000351
NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu) rs369066468
NM_017950.4(CCDC40):c.507G>A (p.Ser169=) rs2885349
NM_017950.4(CCDC40):c.552+5G>A
NM_017950.4(CCDC40):c.553-6C>A rs758045878
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile) rs200292678
NM_017950.4(CCDC40):c.608G>A (p.Arg203His)
NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln)
NM_017950.4(CCDC40):c.630C>T (p.Ser210=) rs117419007
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn) rs150615436
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala) rs760951742
NM_017950.4(CCDC40):c.676+13T>C rs7212525
NM_017950.4(CCDC40):c.677-4C>G rs2289530
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn) rs201815496
NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys)
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940
NM_017950.4(CCDC40):c.873C>T (p.Phe291=) rs2289531
NM_017950.4(CCDC40):c.940-7G>A rs727504972
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr) rs61998241
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753
NM_017950.4(CCDC40):c.966C>T (p.Ala322=) rs369089505
NM_017950.4(CCDC40):c.994T>C (p.Tyr332His)

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.