ClinVar Miner

List of variants reported as likely benign for Primary ciliary dyskinesia 23 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_018076.5(ODAD2):c.995A>G (p.Lys332Arg) rs148930400 0.00307
NM_018076.5(ODAD2):c.383-5G>T rs1286999429 0.00294
NM_018076.5(ODAD2):c.205G>C (p.Glu69Gln) rs61729351 0.00246
NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val) rs145619075 0.00205
NM_018076.5(ODAD2):c.390A>G (p.Arg130=) rs12777433 0.00184
NM_018076.5(ODAD2):c.1207T>A (p.Ser403Thr) rs150723128 0.00160
NM_018076.5(ODAD2):c.1654A>C (p.Lys552Gln) rs138205369 0.00137
NM_018076.5(ODAD2):c.2496-7A>G rs201203284 0.00137
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe) rs138588942 0.00116
NM_018076.5(ODAD2):c.1228C>G (p.Gln410Glu) rs531033796 0.00115
NM_018076.5(ODAD2):c.1353T>C (p.Tyr451=) rs149432727 0.00114
NM_018076.5(ODAD2):c.2983G>A (p.Asp995Asn) rs149981194 0.00108
NM_018076.5(ODAD2):c.1386+14A>G rs113561552 0.00067
NM_018076.5(ODAD2):c.1386+11T>C rs113221934 0.00066
NM_018076.5(ODAD2):c.583A>T (p.Ser195Cys) rs138425193 0.00059
NM_018076.5(ODAD2):c.378T>C (p.Val126=) rs144145876 0.00051
NM_018076.5(ODAD2):c.2592A>G (p.Pro864=) rs145042199 0.00048
NM_018076.5(ODAD2):c.960G>A (p.Gln320=) rs146568420 0.00042
NM_018076.5(ODAD2):c.1986+16C>T rs367991055 0.00034
NM_018076.5(ODAD2):c.1869G>A (p.Thr623=) rs189617150 0.00023
NM_018076.5(ODAD2):c.682+18G>C rs188215744 0.00023
NM_018076.5(ODAD2):c.937-7A>G rs370699691 0.00019
NM_018076.5(ODAD2):c.2572G>A (p.Ala858Thr) rs200363248 0.00018
NM_018076.5(ODAD2):c.3021+18T>C rs374256784 0.00016
NM_018076.5(ODAD2):c.2151G>A (p.Lys717=) rs375534822 0.00014
NM_018076.5(ODAD2):c.1534-12T>C rs760820385 0.00011
NM_018076.5(ODAD2):c.765C>T (p.His255=) rs147124402 0.00010
NM_018076.5(ODAD2):c.1218C>T (p.His406=) rs774971206 0.00009
NM_018076.5(ODAD2):c.2610+9G>A rs374705044 0.00009
NM_018076.5(ODAD2):c.1142+15G>A rs374352757 0.00006
NM_018076.5(ODAD2):c.12T>G (p.Ala4=) rs757096123 0.00005
NM_018076.5(ODAD2):c.1266T>C (p.Thr422=) rs531062950 0.00004
NM_018076.5(ODAD2):c.1380T>C (p.Tyr460=) rs771197791 0.00004
NM_018076.5(ODAD2):c.1716G>T (p.Val572=) rs146489459 0.00004
NM_018076.5(ODAD2):c.1791G>A (p.Ser597=) rs779015420 0.00004
NM_018076.5(ODAD2):c.2079C>T (p.Cys693=) rs140338410 0.00004
NM_018076.5(ODAD2):c.571T>C (p.Ser191Pro) rs11599060 0.00004
NM_018076.5(ODAD2):c.1092C>A (p.Thr364=) rs760207733 0.00003
NM_018076.5(ODAD2):c.1460A>T (p.Gln487Leu) rs773452157 0.00003
NM_018076.5(ODAD2):c.2271C>G (p.Ala757=) rs112483026 0.00003
NM_018076.5(ODAD2):c.2934C>T (p.Asn978=) rs139934178 0.00003
NM_018076.5(ODAD2):c.42C>T (p.Ala14=) rs537638168 0.00003
NM_018076.5(ODAD2):c.534G>C (p.Leu178Phe) rs550542420 0.00003
NM_018076.5(ODAD2):c.657C>T (p.Val219=) rs765025001 0.00003
NM_018076.5(ODAD2):c.906A>G (p.Ser302=) rs767652411 0.00003
NM_018076.5(ODAD2):c.1677C>T (p.Ile559=) rs182410357 0.00002
NM_018076.5(ODAD2):c.2559C>T (p.Asp853=) rs553264617 0.00002
NM_018076.5(ODAD2):c.1387-4G>T rs1590099355 0.00001
NM_018076.5(ODAD2):c.1416G>A (p.Ala472=) rs1420271169 0.00001
NM_018076.5(ODAD2):c.1515C>T (p.Thr505=) rs369884669 0.00001
NM_018076.5(ODAD2):c.1728G>A (p.Gly576=) rs1198624354 0.00001
NM_018076.5(ODAD2):c.192G>A (p.Ala64=) rs760968744 0.00001
NM_018076.5(ODAD2):c.2098-6G>A rs1226089165 0.00001
NM_018076.5(ODAD2):c.2166A>G (p.Leu722=) rs772901515 0.00001
NM_018076.5(ODAD2):c.225-15A>G rs1448669531 0.00001
NM_018076.5(ODAD2):c.2286G>A (p.Val762=) rs780112130 0.00001
NM_018076.5(ODAD2):c.2322G>T (p.Val774=) rs757039976 0.00001
NM_018076.5(ODAD2):c.2496-15T>G rs750965893 0.00001
NM_018076.5(ODAD2):c.2901A>C (p.Pro967=) rs750081562 0.00001
NM_018076.5(ODAD2):c.3114A>C (p.Thr1038=) rs1379144760 0.00001
NM_018076.5(ODAD2):c.382+14T>C rs1180938245 0.00001
NM_018076.5(ODAD2):c.383-9T>A rs1193786815 0.00001
NM_018076.5(ODAD2):c.468A>G (p.Lys156=) rs780220531 0.00001
NM_018076.5(ODAD2):c.672A>G (p.Glu224=) rs1299728001 0.00001
NM_018076.5(ODAD2):c.1029T>C (p.Ile343=)
NM_018076.5(ODAD2):c.1113A>G (p.Leu371=)
NM_018076.5(ODAD2):c.1125C>A (p.Thr375=)
NM_018076.5(ODAD2):c.1142+11A>G
NM_018076.5(ODAD2):c.1142+7A>T
NM_018076.5(ODAD2):c.1239-13T>A
NM_018076.5(ODAD2):c.1239-14G>A
NM_018076.5(ODAD2):c.1254G>A (p.Lys418=)
NM_018076.5(ODAD2):c.126C>A (p.Ile42=) rs1394621534
NM_018076.5(ODAD2):c.1278C>T (p.Ser426=) rs1060504993
NM_018076.5(ODAD2):c.1296A>G (p.Glu432=)
NM_018076.5(ODAD2):c.1347A>G (p.Ser449=)
NM_018076.5(ODAD2):c.1386+19A>G
NM_018076.5(ODAD2):c.1387-10A>G
NM_018076.5(ODAD2):c.1387-15A>G
NM_018076.5(ODAD2):c.1387-17G>C
NM_018076.5(ODAD2):c.1387-4G>A
NM_018076.5(ODAD2):c.138T>C (p.Pro46=)
NM_018076.5(ODAD2):c.1461G>A (p.Gln487=)
NM_018076.5(ODAD2):c.1533+10T>A rs2132635163
NM_018076.5(ODAD2):c.1533+12T>C
NM_018076.5(ODAD2):c.1552C>T (p.Leu518=)
NM_018076.5(ODAD2):c.1614A>G (p.Pro538=) rs920398574
NM_018076.5(ODAD2):c.1632T>G (p.Leu544=)
NM_018076.5(ODAD2):c.1674T>C (p.Thr558=)
NM_018076.5(ODAD2):c.1713G>A (p.Val571=)
NM_018076.5(ODAD2):c.1731T>C (p.Gly577=)
NM_018076.5(ODAD2):c.1743+10C>T
NM_018076.5(ODAD2):c.1744-10A>G
NM_018076.5(ODAD2):c.1744-19G>A
NM_018076.5(ODAD2):c.1752A>C (p.Leu584=)
NM_018076.5(ODAD2):c.1797G>A (p.Leu599=) rs926907910
NM_018076.5(ODAD2):c.1812C>T (p.Asp604=)
NM_018076.5(ODAD2):c.1906C>T (p.Leu636=)
NM_018076.5(ODAD2):c.1929T>A (p.Thr643=)
NM_018076.5(ODAD2):c.1941C>T (p.Asn647=)
NM_018076.5(ODAD2):c.1956G>T (p.Val652=)
NM_018076.5(ODAD2):c.1986+10C>G
NM_018076.5(ODAD2):c.1986+11C>T
NM_018076.5(ODAD2):c.1986+13G>T
NM_018076.5(ODAD2):c.1987-19T>A
NM_018076.5(ODAD2):c.1987-19T>C rs368642943
NM_018076.5(ODAD2):c.1987-4C>T rs1418326493
NM_018076.5(ODAD2):c.1997G>C (p.Arg666Pro) rs35472668
NM_018076.5(ODAD2):c.2031C>T (p.Asn677=) rs1022012517
NM_018076.5(ODAD2):c.2097+20C>T rs764297273
NM_018076.5(ODAD2):c.2097+8G>A
NM_018076.5(ODAD2):c.2098-7C>G
NM_018076.5(ODAD2):c.2098-7C>T
NM_018076.5(ODAD2):c.2098-8T>C
NM_018076.5(ODAD2):c.2115A>G (p.Glu705=)
NM_018076.5(ODAD2):c.2130T>G (p.Val710=)
NM_018076.5(ODAD2):c.2139C>T (p.His713=)
NM_018076.5(ODAD2):c.2190G>A (p.Glu730=)
NM_018076.5(ODAD2):c.2199T>G (p.Ala733=)
NM_018076.5(ODAD2):c.21A>G (p.Lys7=) rs2133232560
NM_018076.5(ODAD2):c.2208A>G (p.Thr736=)
NM_018076.5(ODAD2):c.224+11T>C
NM_018076.5(ODAD2):c.224+12A>G
NM_018076.5(ODAD2):c.224+8A>G
NM_018076.5(ODAD2):c.225-16T>C
NM_018076.5(ODAD2):c.2252+11G>T
NM_018076.5(ODAD2):c.2252+18A>G rs764886603
NM_018076.5(ODAD2):c.2252+19T>A rs2134099850
NM_018076.5(ODAD2):c.2253-12T>C
NM_018076.5(ODAD2):c.2253-13A>T
NM_018076.5(ODAD2):c.2253-14dup
NM_018076.5(ODAD2):c.2283G>A (p.Leu761=)
NM_018076.5(ODAD2):c.22T>C (p.Leu8=)
NM_018076.5(ODAD2):c.2304G>A (p.Gln768=)
NM_018076.5(ODAD2):c.2306C>A (p.Pro769His)
NM_018076.5(ODAD2):c.2310A>G (p.Glu770=)
NM_018076.5(ODAD2):c.2460A>T (p.Ala820=)
NM_018076.5(ODAD2):c.2496-15T>C
NM_018076.5(ODAD2):c.2496-5G>A rs1012390138
NM_018076.5(ODAD2):c.2571C>T (p.Ser857=)
NM_018076.5(ODAD2):c.2592A>C (p.Pro864=)
NM_018076.5(ODAD2):c.2595C>T (p.Cys865=)
NM_018076.5(ODAD2):c.2598C>A (p.Ile866=)
NM_018076.5(ODAD2):c.2610+19T>C
NM_018076.5(ODAD2):c.2610+8C>G rs372647560
NM_018076.5(ODAD2):c.2610+8C>T
NM_018076.5(ODAD2):c.2611-5T>C
NM_018076.5(ODAD2):c.2634C>T (p.Ser878=)
NM_018076.5(ODAD2):c.276A>G (p.Leu92=)
NM_018076.5(ODAD2):c.2788C>T (p.Leu930=)
NM_018076.5(ODAD2):c.2799+10A>G rs1840112898
NM_018076.5(ODAD2):c.2799+8A>G
NM_018076.5(ODAD2):c.2800-10C>T
NM_018076.5(ODAD2):c.2800-6G>T
NM_018076.5(ODAD2):c.2826A>G (p.Leu942=)
NM_018076.5(ODAD2):c.2877C>T (p.Phe959=)
NM_018076.5(ODAD2):c.2919A>G (p.Lys973=)
NM_018076.5(ODAD2):c.2937G>A (p.Val979=)
NM_018076.5(ODAD2):c.2946G>A (p.Ala982=)
NM_018076.5(ODAD2):c.2946G>T (p.Ala982=) rs371338930
NM_018076.5(ODAD2):c.2961G>A (p.Leu987=)
NM_018076.5(ODAD2):c.3018A>G (p.Val1006=)
NM_018076.5(ODAD2):c.3022-21_3022-19del
NM_018076.5(ODAD2):c.3022-9G>A
NM_018076.5(ODAD2):c.3024T>A (p.Leu1008=) rs2132709711
NM_018076.5(ODAD2):c.3030G>A (p.Leu1010=) rs866397170
NM_018076.5(ODAD2):c.3069T>C (p.Ala1023=) rs546928912
NM_018076.5(ODAD2):c.3069T>G (p.Ala1023=)
NM_018076.5(ODAD2):c.3129C>T (p.Tyr1043=)
NM_018076.5(ODAD2):c.382+13C>T
NM_018076.5(ODAD2):c.382+17A>C
NM_018076.5(ODAD2):c.382+7T>C
NM_018076.5(ODAD2):c.383-14T>C
NM_018076.5(ODAD2):c.429A>C (p.Thr143=)
NM_018076.5(ODAD2):c.429A>G (p.Thr143=)
NM_018076.5(ODAD2):c.456T>C (p.Asn152=)
NM_018076.5(ODAD2):c.465C>T (p.Gly155=)
NM_018076.5(ODAD2):c.480T>C (p.Asp160=)
NM_018076.5(ODAD2):c.534G>A (p.Leu178=)
NM_018076.5(ODAD2):c.561A>G (p.Leu187=)
NM_018076.5(ODAD2):c.575+8T>G
NM_018076.5(ODAD2):c.609G>A (p.Lys203=)
NM_018076.5(ODAD2):c.63C>T (p.Leu21=)
NM_018076.5(ODAD2):c.642A>G (p.Lys214=)
NM_018076.5(ODAD2):c.682+18G>A
NM_018076.5(ODAD2):c.683-18C>G
NM_018076.5(ODAD2):c.6T>G (p.Gly2=) rs2133232732
NM_018076.5(ODAD2):c.780G>A (p.Leu260=) rs2133123588
NM_018076.5(ODAD2):c.798A>G (p.Ala266=)
NM_018076.5(ODAD2):c.807A>G (p.Val269=)
NM_018076.5(ODAD2):c.819+20C>T
NM_018076.5(ODAD2):c.819+8A>C
NM_018076.5(ODAD2):c.820-20A>C
NM_018076.5(ODAD2):c.820-6C>T
NM_018076.5(ODAD2):c.820-8T>G
NM_018076.5(ODAD2):c.843C>T (p.Asp281=)
NM_018076.5(ODAD2):c.867A>T (p.Ser289=)
NM_018076.5(ODAD2):c.882T>C (p.Leu294=)
NM_018076.5(ODAD2):c.975T>C (p.Asp325=)
NM_018076.5(ODAD2):c.978G>A (p.Gln326=) rs769554961

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