ClinVar Miner

List of variants reported as pathogenic for Primary ciliary dyskinesia by Ambry Genetics

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ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter) rs148139814 0.00019
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595 0.00010
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) rs368260932 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His) rs769458738 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_152732.5(RSPH9):c.466C>T (p.Arg156Ter) rs376496894 0.00006
NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter) rs750528020 0.00005
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665 0.00004
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter) rs121908855 0.00003
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964 0.00003
NM_001364171.2(ODAD1):c.597+1G>A rs606231238 0.00003
NM_003114.5(SPAG1):c.742C>T (p.Arg248Ter) rs770777381 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter) rs150975285 0.00003
NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter) rs72658817 0.00002
NM_001277115.2(DNAH11):c.2965C>T (p.Arg989Ter) rs753010997 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_017802.4(DNAAF5):c.2374C>T (p.Arg792Ter) rs1216182303 0.00002
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter) rs387907152 0.00001
NM_001277115.2(DNAH11):c.10324C>T (p.Gln3442Ter) rs72657393 0.00001
NM_001277115.2(DNAH11):c.1247C>A (p.Ser416Ter) rs1783826754 0.00001
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter) rs374107286 0.00001
NM_001277115.2(DNAH11):c.4621C>T (p.Arg1541Ter) rs757013900 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.6406C>T (p.Gln2136Ter) rs1261633400 0.00001
NM_001277115.2(DNAH11):c.8076_8077del (p.Met2693fs) rs1785931346 0.00001
NM_001364171.2(ODAD1):c.170+1G>A rs1326332740 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983 0.00001
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter) rs754982008 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.5114+1G>C rs878854457 0.00001
NM_001369.3(DNAH5):c.6898C>T (p.Gln2300Ter) rs1157521172 0.00001
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) rs775946081 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504 0.00001
NM_012472.6(DNAAF11):c.738_745dup (p.Phe249fs) rs771548650 0.00001
NM_017802.4(DNAAF5):c.2152C>T (p.Arg718Ter) rs1778714650 0.00001
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter) rs747233125 0.00001
NM_017950.4(CCDC40):c.2920C>T (p.Gln974Ter) rs977416538 0.00001
NM_018076.5(ODAD2):c.334del (p.Ile113fs) rs1175750984 0.00001
NM_023036.6(DNAI2):c.1697del (p.Asp566fs) rs764971993 0.00001
NM_152732.5(RSPH9):c.117C>A (p.Tyr39Ter) rs1233811324 0.00001
NM_000328.3(RPGR):c.1997_1998del (p.Val666fs) rs2519757776
NM_001010892.3(RSPH4A):c.517C>T (p.Gln173Ter) rs1244173581
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.1880C>G (p.Ser627Ter) rs2147200625
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer) rs2147297973
NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter) rs2085819579
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs) rs886042735
NM_001277115.2(DNAH11):c.10680del (p.Gly3563fs) rs2535362742
NM_001277115.2(DNAH11):c.13240dup (p.Thr4414fs) rs759332741
NM_001277115.2(DNAH11):c.2931dup (p.Cys978fs) rs1446965214
NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter) rs374802008
NM_001277115.2(DNAH11):c.3898_3906delinsG (p.Gln1300fs) rs2534689583
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs) rs761764078
NM_001277115.2(DNAH11):c.4425C>A (p.Tyr1475Ter) rs373706559
NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter) rs774689207
NM_001277115.2(DNAH11):c.4552C>T (p.Gln1518Ter) rs369681389
NM_001277115.2(DNAH11):c.5163_5164insCAGCC (p.Ile1722fs)
NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter) rs372143147
NM_001277115.2(DNAH11):c.7140_7141del (p.Val2382fs) rs878854445
NM_001277115.2(DNAH11):c.9228del (p.Glu3076fs) rs2535218090
NM_001277115.2(DNAH11):c.9243del (p.Phe3081fs) rs2535218168
NM_001277115.2(DNAH11):c.9430C>T (p.Gln3144Ter) rs1428188386
NM_001277115.2(DNAH11):c.9560_9561insAGTT (p.Ala3189fs) rs2535252563
NM_001277115.2(DNAH11):c.966dup (p.Leu323fs) rs1462707634
NM_001364171.2(ODAD1):c.424del (p.Leu142fs) rs2515950149
NM_001364171.2(ODAD1):c.451del (p.Arg151fs) rs751909800
NM_001369.3(DNAH5):c.10348G>T (p.Glu3450Ter) rs758739748
NM_001369.3(DNAH5):c.11047_11050del (p.Lys3682_Glu3683insTer) rs1750178563
NM_001369.3(DNAH5):c.11611_11612del (p.Ile3871fs) rs2546561572
NM_001369.3(DNAH5):c.11840del (p.Val3947fs) rs2546547058
NM_001369.3(DNAH5):c.11860_11870del (p.Gln3954fs) rs2546546922
NM_001369.3(DNAH5):c.12858_12863delinsGTAAAAT (p.Tyr4287_Asn4288delinsTer) rs2546508833
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter) rs2546486911
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779
NM_001369.3(DNAH5):c.1534C>T (p.Gln512Ter) rs764935565
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter) rs1484394072
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.3341_3342del (p.Lys1114fs) rs768881056
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter) rs116128702
NM_001369.3(DNAH5):c.3504del (p.Glu1168fs) rs2546999923
NM_001369.3(DNAH5):c.4257C>A (p.Tyr1419Ter) rs1769153825
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter) rs1344601147
NM_001369.3(DNAH5):c.4695del (p.Phe1565fs) rs2151905765
NM_001369.3(DNAH5):c.506C>A (p.Ser169Ter) rs749078502
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.5326del (p.Asp1776fs) rs2546911765
NM_001369.3(DNAH5):c.5389C>T (p.Gln1797Ter) rs2546911328
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.5902C>T (p.Gln1968Ter) rs775125740
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6343del (p.Ile2114_Ile2115insTer) rs1474945018
NM_001369.3(DNAH5):c.6368del (p.Gly2123fs) rs2151835119
NM_001369.3(DNAH5):c.7455_7456dup (p.Phe2486fs) rs2127015093
NM_001369.3(DNAH5):c.791_794del (p.Thr264fs) rs1391084505
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter) rs1060501459
NM_001369.3(DNAH5):c.8751T>G (p.Tyr2917Ter) rs1755980161
NM_001369.3(DNAH5):c.8782_8786dup (p.Phe2930fs) rs1755969817
NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter) rs764948792
NM_001369.3(DNAH5):c.9679A>T (p.Lys3227Ter) rs2546658786
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter) rs923842695
NM_001369.3(DNAH5):c.9990dup (p.Gln3331fs) rs2126762332
NM_003114.5(SPAG1):c.1285_1294del (p.Gly429fs) rs918324226
NM_003611.3(OFD1):c.1117_1121del (p.Arg373fs) rs2518886212
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter) rs2147086302
NM_003611.3(OFD1):c.393del (p.Asp132fs) rs2518777923
NM_003611.3(OFD1):c.655-2A>G rs1569122408
NM_003611.3(OFD1):c.935+1G>T rs2518857883
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter) rs1824451856
NM_012144.4(DNAI1):c.336del (p.Asp114fs) rs876657683
NM_012144.4(DNAI1):c.342del (p.Ser115fs) rs2492032478
NM_012472.6(DNAAF11):c.328C>T (p.Gln110Ter) rs777779770
NM_012472.6(DNAAF11):c.630del (p.Trp210fs) rs760123202
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs) rs769220870
NM_012472.6(DNAAF11):c.936_937del (p.Asp312fs) rs1586586381
NM_017950.4(CCDC40):c.1233dup (p.Arg412fs) rs2510295858
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter) rs775299709
NM_017950.4(CCDC40):c.1416del (p.Ile473fs) rs764011276
NM_017950.4(CCDC40):c.2408del (p.Lys803fs) rs2510315381
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2852dup (p.Lys952fs) rs878855042
NM_018076.5(ODAD2):c.395_396del (p.Pro132fs) rs1277709050
NM_018139.3(DNAAF2):c.1159G>T (p.Glu387Ter) rs1439733262
NM_018139.3(DNAAF2):c.1585C>T (p.Gln529Ter) rs139416233
NM_023036.6(DNAI2):c.1122del (p.Phe375fs) rs2053123483
NM_152732.5(RSPH9):c.131_144delinsG (p.Val44fs) rs2532698369
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) rs745495583
NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter) rs1060502829
NM_178452.6(DNAAF1):c.331dup (p.Thr111fs) rs767808030
NM_181426.2(CCDC39):c.1625_1632del (p.Arg542fs) rs2473806213
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) rs1560086701
NM_181426.2(CCDC39):c.1898_1901del (p.Ser633fs) rs776301372
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) rs1174553107
NM_181426.2(CCDC39):c.216_217del (p.Cys73fs) rs1489439743
NM_181426.2(CCDC39):c.2190del (p.Glu731fs) rs587778820
NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs) rs771057685
NM_181426.2(CCDC39):c.277G>T (p.Glu93Ter) rs2473826256
NM_181426.2(CCDC39):c.547_548del (p.Leu183fs) rs758482424
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_213607.3(DNAAF19):c.115C>T (p.Gln39Ter) rs1060503433

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