ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 3 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01240
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_001369.3(DNAH5):c.7752+7C>G rs143848918 0.00116
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00074
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00060
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 0.00033
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001369.3(DNAH5):c.2431+5G>A rs369244905 0.00026
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn) rs138832246 0.00019
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.360T>C (p.Asp120=) rs368412855 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile) rs369279743 0.00011
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301 0.00011
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His) rs148539877 0.00010
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met) rs140690090 0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036 0.00009
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00007
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His) rs769458738 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met) rs186180802 0.00005
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216 0.00005
NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr) rs201417702 0.00005
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly) rs369783406 0.00005
NM_001369.3(DNAH5):c.3745G>A (p.Asp1249Asn) rs140471516 0.00005
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00005
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001369.3(DNAH5):c.12171T>C (p.Asp4057=) rs181510043 0.00004
NM_001369.3(DNAH5):c.2307C>T (p.Ala769=) rs773547505 0.00004
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006 0.00003
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) rs758395320 0.00003
NM_001369.3(DNAH5):c.11228G>T (p.Arg3743Ile) rs774599183 0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys) rs749862482 0.00003
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser) rs752638332 0.00003
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter) rs772230378 0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro) rs748763552 0.00002
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile) rs777579934 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.6989-6T>C rs1761231844 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_001369.3(DNAH5):c.10825C>T (p.Gln3609Ter) rs749980719 0.00001
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=) rs188428209 0.00001
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe) rs201068342 0.00001
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103 0.00001
NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter) rs1743041017 0.00001
NM_001369.3(DNAH5):c.1828C>T (p.Gln610Ter) rs121908853 0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983 0.00001
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter) rs1060501458 0.00001
NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter) rs760081822 0.00001
NM_001369.3(DNAH5):c.3873A>T (p.Ile1291=) rs970611077 0.00001
NM_001369.3(DNAH5):c.4237C>T (p.Gln1413Ter) rs752734772 0.00001
NM_001369.3(DNAH5):c.4314del (p.Asn1438fs) rs765355281 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.439-2A>G rs565076112 0.00001
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys) rs752339132 0.00001
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser) rs368576880 0.00001
NM_001369.3(DNAH5):c.57+1G>A rs376118760 0.00001
NM_001369.3(DNAH5):c.5883-1G>A rs1195745037 0.00001
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228 0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=) rs764201218 0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) rs756444637 0.00001
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser) rs777962194 0.00001
NM_001369.3(DNAH5):c.7734C>T (p.Thr2578=) rs1222953554 0.00001
NM_001369.3(DNAH5):c.8010+3A>G rs748171209 0.00001
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448 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.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys) rs150899380 0.00001
NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=) rs1754239719 0.00001
NM_001369.3(DNAH5):c.9346C>T (p.Arg3116Ter) rs1264701182 0.00001
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly) rs762677340 0.00001
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504 0.00001
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter) rs369683202 0.00001
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter) rs1752923333 0.00001
NM_001369.3(DNAH5):c.9980del (p.Leu3327fs) rs1752478598 0.00001
NM_001369.3(DNAH5):c.10102-1G>A
NM_001369.3(DNAH5):c.10102-1G>C
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln) rs202169624
NM_001369.3(DNAH5):c.10555+1G>C
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr) rs766829989
NM_001369.3(DNAH5):c.10719del (p.Ser3574fs) rs765980788
NM_001369.3(DNAH5):c.10757T>A (p.Leu3586Ter)
NM_001369.3(DNAH5):c.10996A>T (p.Arg3666Ter) rs2546611536
NM_001369.3(DNAH5):c.11389C>T (p.Gln3797Ter) rs1467939954
NM_001369.3(DNAH5):c.11585del (p.Pro3862fs)
NM_001369.3(DNAH5):c.11658_11668del (p.Leu3887fs) rs2126607061
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.3(DNAH5):c.1181del (p.Thr394fs)
NM_001369.3(DNAH5):c.11883+1G>A
NM_001369.3(DNAH5):c.12033+7A>C rs77541151
NM_001369.3(DNAH5):c.12499+1dup
NM_001369.3(DNAH5):c.12586C>T (p.Gln4196Ter) rs886059965
NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter) rs762673561
NM_001369.3(DNAH5):c.1302del (p.Ala435fs)
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13126-1G>C
NM_001369.3(DNAH5):c.13141C>T (p.Gln4381Ter)
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=) rs541266118
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe) rs1775975227
NM_001369.3(DNAH5):c.1891dup (p.Arg631fs)
NM_001369.3(DNAH5):c.2053-2A>G
NM_001369.3(DNAH5):c.2136_2139dup (p.Ile714fs)
NM_001369.3(DNAH5):c.2137C>T (p.Gln713Ter) rs2547087810
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs) rs1462578042
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr) rs1773692803
NM_001369.3(DNAH5):c.2557G>T (p.Glu853Ter)
NM_001369.3(DNAH5):c.2577+1G>A rs867422125
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter) rs1484394072
NM_001369.3(DNAH5):c.2695G>T (p.Glu899Ter)
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile) rs1772373275
NM_001369.3(DNAH5):c.2732dup (p.Asn911fs)
NM_001369.3(DNAH5):c.283C>T (p.Leu95Phe) rs757542755
NM_001369.3(DNAH5):c.3142dup (p.Val1048fs)
NM_001369.3(DNAH5):c.3396+1G>A
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His) rs1554085372
NM_001369.3(DNAH5):c.3466del (p.Ile1156fs) rs775866092
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs) rs1561477725
NM_001369.3(DNAH5):c.3598+1G>A rs2151920209
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.3598G>A (p.Ala1200Thr)
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter) rs769582678
NM_001369.3(DNAH5):c.3721A>T (p.Lys1241Ter)
NM_001369.3(DNAH5):c.376del (p.Val126fs) rs35129409
NM_001369.3(DNAH5):c.4052del (p.Asp1350_Leu1351insTer)
NM_001369.3(DNAH5):c.4171C>A (p.Leu1391Ile) rs1000047685
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.3(DNAH5):c.4556T>A (p.Ile1519Asn) rs371453794
NM_001369.3(DNAH5):c.4597-2A>T rs756687157
NM_001369.3(DNAH5):c.5131C>T (p.Arg1711Ter) rs760869074
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.3(DNAH5):c.5271+1G>A
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.54_57+5del rs2547213808
NM_001369.3(DNAH5):c.5556del (p.Asp1852fs)
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.5632_5633del (p.Leu1878fs)
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001369.3(DNAH5):c.5999dup (p.Tyr2000Ter) rs1372787085
NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter) rs2546879148
NM_001369.3(DNAH5):c.6088T>G (p.Cys2030Gly) rs1763453207
NM_001369.3(DNAH5):c.6293del (p.Lys2098fs) rs1060501461
NM_001369.3(DNAH5):c.6349G>T (p.Val2117Leu) rs1763365674
NM_001369.3(DNAH5):c.6423_6424del (p.Cys2141_Glu2142delinsTer) rs1580457416
NM_001369.3(DNAH5):c.6508dup (p.Arg2170fs) rs878854458
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter) rs1270916321
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter) rs2151814430
NM_001369.3(DNAH5):c.6842-1G>A
NM_001369.3(DNAH5):c.7343del (p.Glu2448fs)
NM_001369.3(DNAH5):c.7400del (p.Pro2467fs)
NM_001369.3(DNAH5):c.7408-1G>A rs2546807137
NM_001369.3(DNAH5):c.7475_7500delinsTTG (p.Ala2492fs) rs2546806383
NM_001369.3(DNAH5):c.7500_7503del (p.Arg2501fs) rs1465499923
NM_001369.3(DNAH5):c.7522dup (p.Leu2508fs)
NM_001369.3(DNAH5):c.7569_7570insA (p.Pro2524fs)
NM_001369.3(DNAH5):c.7647C>G (p.Tyr2549Ter) rs2546801150
NM_001369.3(DNAH5):c.7753-1G>T rs2546794222
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter) rs988596344
NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter) rs1199634064
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs) rs1757084798
NM_001369.3(DNAH5):c.8385del (p.Asp2796fs) rs1178766548
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser) rs77377082
NM_001369.3(DNAH5):c.8692G>T (p.Glu2898Ter)
NM_001369.3(DNAH5):c.877A>T (p.Arg293Ter)
NM_001369.3(DNAH5):c.877dup (p.Arg293fs) rs781566109
NM_001369.3(DNAH5):c.8848G>T (p.Gly2950Ter) rs1338867680
NM_001369.3(DNAH5):c.8999del (p.Arg3000fs) rs1580180757
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.9235C>T (p.Arg3079Ter) rs1175877764
NM_001369.3(DNAH5):c.9272dup (p.Glu3093fs)
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001369.3(DNAH5):c.958_959dup (p.Lys322fs) rs752110126
NM_001369.3(DNAH5):c.9620del (p.Leu3207fs) rs769691641
NM_001369.3(DNAH5):c.9721-8del rs560450857
NM_001369.3(DNAH5):c.9805del (p.Ile3269fs) rs2546656292
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter) rs771715883

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.