ClinVar Miner

List of variants in gene DNAH8 reported as benign for Primary ciliary dyskinesia

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Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001206927.2(DNAH8):c.10141-4del rs11291395 0.50255
NM_001206927.2(DNAH8):c.7569G>A (p.Lys2523=) rs9380795 0.43274
NM_001206927.2(DNAH8):c.7680C>T (p.Val2560=) rs6458080 0.42260
NM_001206927.2(DNAH8):c.5769C>T (p.His1923=) rs2061907 0.42221
NM_001206927.2(DNAH8):c.3071G>A (p.Gly1024Glu) rs874808 0.41622
NM_001206927.2(DNAH8):c.13119A>G (p.Leu4373=) rs3737094 0.39954
NM_001206927.2(DNAH8):c.13054-17T>C rs3737095 0.39925
NM_001206927.2(DNAH8):c.5467-19G>A rs9369085 0.39224
NM_001206927.2(DNAH8):c.1516-20T>C rs2448401 0.25016
NM_001206927.2(DNAH8):c.4300T>C (p.Leu1434=) rs1678729 0.21172
NM_001206927.2(DNAH8):c.8154C>T (p.Tyr2718=) rs4714192 0.20785
NM_001206927.2(DNAH8):c.13462A>G (p.Ile4488Val) rs10484847 0.14280
NM_001206927.2(DNAH8):c.3034+19G>A rs56247993 0.14115
NM_001206927.2(DNAH8):c.12451+13A>G rs10947765 0.14089
NM_001206927.2(DNAH8):c.4255G>A (p.Glu1419Lys) rs9357283 0.14060
NM_001206927.2(DNAH8):c.3034+9T>C rs12192604 0.13716
NM_001206927.2(DNAH8):c.2368A>G (p.Ile790Val) rs3823430 0.13052
NM_001206927.2(DNAH8):c.12968C>T (p.Thr4323Met) rs1537232 0.12781
NM_001206927.2(DNAH8):c.1549T>C (p.Tyr517His) rs61748600 0.12187
NM_001206927.2(DNAH8):c.5196T>C (p.Pro1732=) rs1678744 0.11133
NM_001206927.2(DNAH8):c.13215-15C>T rs12210777 0.10623
NM_001206927.2(DNAH8):c.5541C>T (p.Ala1847=) rs1678746 0.09945
NM_001206927.2(DNAH8):c.2068G>A (p.Gly690Arg) rs1738254 0.09588
NM_001206927.2(DNAH8):c.2292T>C (p.Gly764=) rs1678664 0.09451
NM_001206927.2(DNAH8):c.12008-20T>C rs79465174 0.07141
NM_001206927.2(DNAH8):c.7982C>A (p.Thr2661Asn) rs862432 0.07013
NM_001206927.2(DNAH8):c.9369A>G (p.Arg3123=) rs4452640 0.06254
NM_001206927.2(DNAH8):c.2830G>A (p.Ala944Thr) rs1678674 0.05992
NM_001206927.2(DNAH8):c.863A>G (p.Asn288Ser) rs6935293 0.04501
NM_001206927.2(DNAH8):c.2620G>A (p.Val874Met) rs45529837 0.02534
NM_001206927.2(DNAH8):c.1920C>T (p.Asp640=) rs78139815 0.02314
NM_001206927.2(DNAH8):c.11511G>A (p.Arg3837=) rs61748646 0.02251
NM_001206927.2(DNAH8):c.1764+2T>C rs77769111 0.02157
NM_001206927.2(DNAH8):c.1617+3T>G rs58784538 0.02146
NM_001206927.2(DNAH8):c.5572-19C>T rs112343474 0.01846
NM_001206927.2(DNAH8):c.11457+18G>A rs75452505 0.01374
NM_001206927.2(DNAH8):c.11361A>G (p.Pro3787=) rs111791517 0.01368
NM_001206927.2(DNAH8):c.11204A>G (p.His3735Arg) rs77540135 0.01359
NM_001206927.2(DNAH8):c.1407+20A>G rs9470927 0.01139
NM_001206927.2(DNAH8):c.1050C>T (p.Ala350=) rs9470924 0.01136
NM_001206927.2(DNAH8):c.7551T>C (p.Asp2517=) rs78611987 0.01111
NM_001206927.2(DNAH8):c.11331T>A (p.Thr3777=) rs75954496 0.01063
NM_001206927.2(DNAH8):c.5490C>A (p.Asp1830Glu) rs45519938 0.01062
NM_001206927.2(DNAH8):c.7171G>T (p.Ala2391Ser) rs61758417 0.01041
NM_001206927.2(DNAH8):c.5733+11A>G rs7750162 0.00986
NM_001206927.2(DNAH8):c.5127C>T (p.Leu1709=) rs61748643 0.00931
NM_001206927.2(DNAH8):c.4303-14A>G rs115404395 0.00890
NM_001206927.2(DNAH8):c.4265G>A (p.Arg1422His) rs145309531 0.00681
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met) rs61757218 0.00667
NM_001206927.2(DNAH8):c.4449G>A (p.Glu1483=) rs61757623 0.00622
NM_001206927.2(DNAH8):c.12264C>T (p.Asp4088=) rs61748647 0.00588
NM_001206927.2(DNAH8):c.4084-4G>T rs61748602 0.00549
NM_001206927.2(DNAH8):c.8259+12A>T rs188009638 0.00507
NM_001206927.2(DNAH8):c.12591G>A (p.Thr4197=) rs59067570 0.00492
NM_001206927.2(DNAH8):c.5701C>T (p.Leu1901Phe) rs111580219 0.00490
NM_001206927.2(DNAH8):c.8259+6G>A rs112605623 0.00487
NM_001206927.2(DNAH8):c.8339T>C (p.Ile2780Thr) rs142328376 0.00453
NM_001206927.2(DNAH8):c.4908G>T (p.Glu1636Asp) rs61757219 0.00440
NM_001206927.2(DNAH8):c.8338A>G (p.Ile2780Val) rs116401640 0.00398
NM_001206927.2(DNAH8):c.4401G>A (p.Thr1467=) rs45622336 0.00347
NM_001206927.2(DNAH8):c.4383G>A (p.Leu1461=) rs145272110 0.00317
NM_001206927.2(DNAH8):c.12567A>C (p.Glu4189Asp) rs61757618 0.00314
NM_001206927.2(DNAH8):c.724C>T (p.Arg242Cys) rs79455046 0.00309
NM_001206927.2(DNAH8):c.9943G>A (p.Ala3315Thr) rs76387239 0.00299
NM_001206927.2(DNAH8):c.11340A>G (p.Leu3780=) rs113024778 0.00298
NM_001206927.2(DNAH8):c.1884A>G (p.Gln628=) rs149534667 0.00293
NM_001206927.2(DNAH8):c.2526G>A (p.Gln842=) rs141289823 0.00265
NM_001206927.2(DNAH8):c.8724G>A (p.Glu2908=) rs149787191 0.00261
NM_001206927.2(DNAH8):c.832A>G (p.Ile278Val) rs147580001 0.00259
NM_001206927.2(DNAH8):c.8473+18G>A rs115168718 0.00257
NM_001206927.2(DNAH8):c.11853A>G (p.Thr3951=) rs115871283 0.00255
NM_001206927.2(DNAH8):c.14100G>T (p.Val4700=) rs113990988 0.00252
NM_001206927.2(DNAH8):c.12969G>A (p.Thr4323=) rs114095356 0.00241
NM_001206927.2(DNAH8):c.9740+11T>C rs183793272 0.00235
NM_001206927.2(DNAH8):c.9987C>T (p.Ser3329=) rs150857304 0.00235
NM_001206927.2(DNAH8):c.13214+10T>C rs112998568 0.00210
NM_001206927.2(DNAH8):c.6966A>T (p.Pro2322=) rs149125241 0.00198
NM_001206927.2(DNAH8):c.9513+15T>G rs147204268 0.00170
NM_001206927.2(DNAH8):c.11776T>C (p.Leu3926=) rs148084212 0.00168
NM_001206927.2(DNAH8):c.11700C>T (p.Pro3900=) rs142515873 0.00154
NM_001206927.2(DNAH8):c.2709G>A (p.Ser903=) rs140047863 0.00154
NM_001206927.2(DNAH8):c.10591C>T (p.Leu3531=) rs150730516 0.00152
NM_001206927.2(DNAH8):c.11580C>T (p.Asp3860=) rs149356438 0.00149
NM_001206927.2(DNAH8):c.11817-7G>A rs139673856 0.00148
NM_001206927.2(DNAH8):c.11895T>C (p.Ser3965=) rs151015092 0.00148
NM_001206927.2(DNAH8):c.13372-15T>A rs201333384 0.00145
NM_001206927.2(DNAH8):c.12678+13A>G rs181156919 0.00142
NM_001206927.2(DNAH8):c.10290A>G (p.Ser3430=) rs140024206 0.00136
NM_001206927.2(DNAH8):c.2915A>T (p.Glu972Val) rs139961713 0.00135
NM_001206927.2(DNAH8):c.7620+16del rs573849239 0.00135
NM_001206927.2(DNAH8):c.11997T>C (p.Ala3999=) rs148812133 0.00132
NM_001206927.2(DNAH8):c.10818G>A (p.Thr3606=) rs79890174 0.00126
NM_001206927.2(DNAH8):c.1765-18A>C rs189204270 0.00118
NM_001206927.2(DNAH8):c.8088A>G (p.Leu2696=) rs59600851 0.00104
NM_001206927.2(DNAH8):c.3419A>G (p.His1140Arg) rs377516809 0.00092
NM_001206927.2(DNAH8):c.4881C>T (p.Ile1627=) rs200549336 0.00084
NM_001206927.2(DNAH8):c.10525-11C>T rs141138381 0.00076
NM_001206927.2(DNAH8):c.10179T>G (p.Leu3393=) rs146031264 0.00074
NM_001206927.2(DNAH8):c.9348+5G>T rs181549177 0.00070
NM_001206927.2(DNAH8):c.5364-5T>G rs200015017 0.00053
NM_001206927.2(DNAH8):c.2549A>G (p.Glu850Gly) rs117061525 0.00052
NM_001206927.2(DNAH8):c.12137G>A (p.Arg4046His) rs139446902 0.00043
NM_001206927.2(DNAH8):c.13468C>T (p.Arg4490Cys) rs78849281 0.00040
NM_001206927.2(DNAH8):c.1095A>G (p.Val365=) rs142065001 0.00031
NM_001206927.2(DNAH8):c.13494G>T (p.Leu4498Phe) rs577421218 0.00029
NM_001206927.2(DNAH8):c.10173G>A (p.Arg3391=) rs370433159 0.00023
NM_001206927.2(DNAH8):c.3582G>A (p.Ala1194=) rs199802771 0.00016
NM_001206927.2(DNAH8):c.1860A>C (p.Ile620=) rs149013727 0.00015
NM_001206927.2(DNAH8):c.2409G>A (p.Thr803=) rs150073636 0.00012
NM_001206927.2(DNAH8):c.2665-8G>A rs767746749 0.00012
NM_001206927.2(DNAH8):c.1110C>T (p.Ile370=) rs200423630 0.00009
NM_001206927.2(DNAH8):c.2853G>T (p.Leu951=) rs537668252 0.00007
NM_001206927.2(DNAH8):c.952+14T>C rs188837503 0.00006
NM_001206927.2(DNAH8):c.11781C>A (p.Ala3927=) rs777675600 0.00005
NM_001206927.2(DNAH8):c.3035-4A>G rs185584533 0.00005
NM_001206927.2(DNAH8):c.2037A>G (p.Gln679=) rs761979645 0.00004
NM_001206927.2(DNAH8):c.8524A>G (p.Ile2842Val) rs377381072 0.00004
NM_001206927.2(DNAH8):c.12526-3C>T rs374461538 0.00003
NM_001206927.2(DNAH8):c.10662+20dup rs772003827
NM_001206927.2(DNAH8):c.10795G>T (p.Val3599Leu) rs150171166
NM_001206927.2(DNAH8):c.1294-6del rs766073829
NM_001206927.2(DNAH8):c.12951+23dup rs1196316242
NM_001206927.2(DNAH8):c.13715-8del rs748982645
NM_001206927.2(DNAH8):c.13896G>A (p.Gly4632=) rs143487714
NM_001206927.2(DNAH8):c.1975G>A (p.Ala659Thr) rs61748601
NM_001206927.2(DNAH8):c.2259+21del rs2532350073
NM_001206927.2(DNAH8):c.3294C>A (p.Ser1098=) rs1678690
NM_001206927.2(DNAH8):c.3294C>G (p.Ser1098=) rs1678690
NM_001206927.2(DNAH8):c.4083+24_4083+25dup rs34231573
NM_001206927.2(DNAH8):c.4083+25del rs34231573
NM_001206927.2(DNAH8):c.4083+25dup rs34231573
NM_001206927.2(DNAH8):c.4365+19del rs754363733
NM_001206927.2(DNAH8):c.5467-15del
NM_001206927.2(DNAH8):c.5958+19del rs753808577
NM_001206927.2(DNAH8):c.5958+19dup rs753808577
NM_001206927.2(DNAH8):c.6131+19G>A rs527849962
NM_001206927.2(DNAH8):c.6131+25dup rs34840510
NM_001206927.2(DNAH8):c.6498+11del rs776099828
NM_001206927.2(DNAH8):c.6498+11dup
NM_001206927.2(DNAH8):c.7479+6dup rs2150435501
NM_001206927.2(DNAH8):c.7620+15del rs558170060
NM_001206927.2(DNAH8):c.7620+15dup rs558170060
NM_001206927.2(DNAH8):c.8748-9del rs748668438
NM_001206927.2(DNAH8):c.953-10del rs771138717
NM_001206927.2(DNAH8):c.9859+7GGAAT[2] rs878854276

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