ClinVar Miner

List of variants reported as uncertain significance for Primary ciliary dyskinesia 3

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ClinVar version:
Total variants: 472
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.*84C>T rs151143347 0.00442
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_001369.3(DNAH5):c.4796+11C>A rs146696580 0.00299
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_001369.3(DNAH5):c.*426C>T rs541323896 0.00260
NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile) rs77874614 0.00250
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=) rs138639741 0.00241
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00231
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00206
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00194
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu) rs143251588 0.00185
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845 0.00185
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600 0.00176
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_001369.3(DNAH5):c.*1652C>T rs149589710 0.00165
NM_001369.3(DNAH5):c.1321-15T>C rs202081804 0.00160
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00157
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys) rs111912673 0.00127
NM_001369.3(DNAH5):c.7753-9C>G rs377367981 0.00122
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00119
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692 0.00112
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00111
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=) rs112911055 0.00109
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) rs114220185 0.00096
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250 0.00085
NM_001369.3(DNAH5):c.*1613G>A rs763635720 0.00084
NM_001369.3(DNAH5):c.1090-14G>T rs150627172 0.00079
NM_001369.3(DNAH5):c.342C>T (p.Phe114=) rs145920072 0.00078
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00074
NM_001369.3(DNAH5):c.5882+133A>G rs530043272 0.00074
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015 0.00070
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=) rs138157585 0.00070
NM_001369.3(DNAH5):c.8224+15G>A rs148099176 0.00070
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.11570+124G>C rs543104462 0.00057
NM_001369.3(DNAH5):c.12500-11G>A rs200056509 0.00057
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) rs529225111 0.00056
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=) rs144893234 0.00052
NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=) rs150429110 0.00052
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881 0.00052
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00051
NM_001369.3(DNAH5):c.*445G>A rs139979856 0.00046
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=) rs775185371 0.00046
NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile) rs149489069 0.00046
NM_001369.3(DNAH5):c.*427G>A rs564203224 0.00045
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val) rs143745645 0.00044
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=) rs151274810 0.00044
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn) rs144128250 0.00044
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala) rs140227610 0.00042
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe) rs146750552 0.00039
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met) rs142036266 0.00039
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met) rs140345677 0.00039
NM_001369.3(DNAH5):c.975+6C>T rs151000177 0.00039
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00038
NM_001369.3(DNAH5):c.2067T>C (p.His689=) rs140630779 0.00037
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00036
NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg) rs150050027 0.00036
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser) rs201469505 0.00034
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln) rs144949095 0.00034
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311 0.00033
NM_001369.3(DNAH5):c.11570+13G>A rs80199741 0.00031
NM_001369.3(DNAH5):c.11570+8T>C rs369789559 0.00031
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=) rs147865593 0.00031
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val) rs139180192 0.00030
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala) rs149187750 0.00029
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys) rs138968139 0.00027
NM_001369.3(DNAH5):c.2431+5G>A rs369244905 0.00026
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe) rs148017278 0.00026
NM_001369.3(DNAH5):c.382G>A (p.Val128Met) rs200553244 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750 0.00025
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00024
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) rs138441172 0.00023
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001369.3(DNAH5):c.11761+5A>G rs780205801 0.00022
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=) rs201484389 0.00022
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00022
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961 0.00021
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg) rs148666497 0.00020
NM_001369.3(DNAH5):c.1830G>A (p.Gln610=) rs549164618 0.00019
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn) rs138832246 0.00019
NM_001369.3(DNAH5):c.5911G>A (p.Gly1971Arg) rs764973765 0.00019
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser) rs141196027 0.00019
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=) rs201028861 0.00018
NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu) rs146215039 0.00018
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser) rs368959723 0.00016
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr) rs140700961 0.00016
NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=) rs371663826 0.00015
NM_001369.3(DNAH5):c.1335C>T (p.Cys445=) rs192739957 0.00015
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=) rs199951976 0.00015
NM_001369.3(DNAH5):c.4016T>G (p.Leu1339Arg) rs367816483 0.00015
NM_001369.3(DNAH5):c.4587G>A (p.Glu1529=) rs569428035 0.00015
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys) rs144053917 0.00014
NM_001369.3(DNAH5):c.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.4797-7A>G rs374917069 0.00014
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=) rs368456533 0.00014
NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp) rs182512638 0.00013
NM_001369.3(DNAH5):c.*291G>A rs771015963 0.00012
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) rs200101760 0.00012
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00012
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val) rs201939338 0.00012
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=) rs144001451 0.00012
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys) rs376292253 0.00011
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=) rs755149967 0.00011
NM_001369.3(DNAH5):c.12546G>A (p.Lys4182=) rs146330391 0.00011
NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=) rs376510352 0.00011
NM_001369.3(DNAH5):c.3397-8G>T rs200694593 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.12105G>A (p.Thr4035=) rs199735129 0.00010
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His) rs148539877 0.00010
NM_001369.3(DNAH5):c.*920A>G rs1386874771 0.00009
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313 0.00009
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=) rs149580135 0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239 0.00009
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly) rs368776967 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 0.00009
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro) rs150793327 0.00009
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=) rs139916610 0.00009
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) rs73055857 0.00009
NM_001369.3(DNAH5):c.393C>T (p.Ile131=) rs202190908 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.8828G>A (p.Arg2943His) rs184758570 0.00009
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) rs201242847 0.00008
NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro) rs200249508 0.00008
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val) rs148837179 0.00008
NM_001369.3(DNAH5):c.56C>T (p.Thr19Met) rs757712771 0.00008
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala) rs368863709 0.00008
NM_001369.3(DNAH5):c.7867A>G (p.Thr2623Ala) rs371099382 0.00008
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe) rs201706790 0.00008
NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr) rs757212818 0.00008
NM_001369.3(DNAH5):c.*1361G>T rs886059930 0.00007
NM_001369.3(DNAH5):c.*281T>C rs936169293 0.00007
NM_001369.3(DNAH5):c.11969C>A (p.Ser3990Tyr) rs1000624148 0.00007
NM_001369.3(DNAH5):c.11998A>T (p.Ile4000Phe) rs1490888369 0.00007
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00007
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met) rs141828476 0.00007
NM_001369.3(DNAH5):c.2481C>T (p.Arg827=) rs777353326 0.00007
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr) rs117989731 0.00007
NM_001369.3(DNAH5):c.7752+3A>G rs200385399 0.00007
NM_001369.3(DNAH5):c.10377C>T (p.Asp3459=) rs139317626 0.00006
NM_001369.3(DNAH5):c.10593T>A (p.Ser3531=) rs200974254 0.00006
NM_001369.3(DNAH5):c.10639C>T (p.Arg3547Trp) rs747041428 0.00006
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His) rs138838869 0.00006
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=) rs202103048 0.00006
NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=) rs201264488 0.00006
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala) rs373657849 0.00006
NM_001369.3(DNAH5):c.7452C>A (p.Phe2484Leu) rs561666802 0.00006
NM_001369.3(DNAH5):c.11826A>G (p.Thr3942=) rs140220517 0.00005
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00005
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln) rs376927687 0.00005
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp) rs753960777 0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216 0.00005
NM_001369.3(DNAH5):c.2260-2552G>T rs1047408706 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.3655C>T (p.Arg1219Cys) rs745321705 0.00005
NM_001369.3(DNAH5):c.3745G>A (p.Asp1249Asn) rs140471516 0.00005
NM_001369.3(DNAH5):c.4262G>A (p.Ser1421Asn) rs774855042 0.00005
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=) rs377432140 0.00005
NM_001369.3(DNAH5):c.4614G>A (p.Ala1538=) rs78667898 0.00005
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr) rs758513686 0.00005
NM_001369.3(DNAH5):c.6659C>T (p.Pro2220Leu) rs144308691 0.00005
NM_001369.3(DNAH5):c.727C>G (p.Leu243Val) rs761877376 0.00005
NM_001369.3(DNAH5):c.*305C>T rs955336890 0.00004
NM_001369.3(DNAH5):c.*697A>G rs972489046 0.00004
NM_001369.3(DNAH5):c.1240A>G (p.Asn414Asp) rs143391709 0.00004
NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His) rs373749995 0.00004
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln) rs761289479 0.00004
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly) rs749983185 0.00004
NM_001369.3(DNAH5):c.3934C>T (p.Arg1312Cys) rs781667158 0.00004
NM_001369.3(DNAH5):c.6989-14G>T rs368353964 0.00004
NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His) rs373885245 0.00004
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224 0.00004
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=) rs770064361 0.00004
NM_001369.3(DNAH5):c.*1506G>A rs574438524 0.00003
NM_001369.3(DNAH5):c.*349G>A rs866931796 0.00003
NM_001369.3(DNAH5):c.*891A>G rs764924502 0.00003
NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys) rs147882360 0.00003
NM_001369.3(DNAH5):c.10282G>A (p.Ala3428Thr) rs760220268 0.00003
NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu) rs150532311 0.00003
NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln) rs779977337 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.11463G>A (p.Thr3821=) rs200744540 0.00003
NM_001369.3(DNAH5):c.11571-9A>G rs779715252 0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=) rs755874851 0.00003
NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe) rs572139897 0.00003
NM_001369.3(DNAH5):c.12234C>T (p.Gly4078=) rs886059967 0.00003
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=) rs572468560 0.00003
NM_001369.3(DNAH5):c.12646G>A (p.Asp4216Asn) rs768917457 0.00003
NM_001369.3(DNAH5):c.13492-11G>T rs749125197 0.00003
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys) rs749862482 0.00003
NM_001369.3(DNAH5):c.1537-10A>T rs777597757 0.00003
NM_001369.3(DNAH5):c.2260-12A>G rs184701603 0.00003
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser) rs752638332 0.00003
NM_001369.3(DNAH5):c.465G>A (p.Ala155=) rs763709302 0.00003
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021 0.00003
NM_001369.3(DNAH5):c.535A>G (p.Thr179Ala) rs755082450 0.00003
NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=) rs372046349 0.00003
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00003
NM_001369.3(DNAH5):c.6109A>G (p.Ile2037Val) rs200551639 0.00003
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val) rs752077073 0.00003
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg) rs187551830 0.00003
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val) rs189971831 0.00003
NM_001369.3(DNAH5):c.7987A>G (p.Ile2663Val) rs113576049 0.00003
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val) rs770090882 0.00003
NM_001369.3(DNAH5):c.8085C>G (p.Thr2695=) rs147427207 0.00003
NM_001369.3(DNAH5):c.8099T>C (p.Ile2700Thr) rs760739660 0.00003
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn) rs572852817 0.00003
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His) rs756069405 0.00003
NM_001369.3(DNAH5):c.9128A>T (p.Asp3043Val) rs759475605 0.00003
NM_001369.3(DNAH5):c.9590G>A (p.Arg3197Gln) rs573476401 0.00003
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln) rs376626613 0.00003
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=) rs771715883 0.00003
NM_001369.3(DNAH5):c.*100G>A rs527863586 0.00002
NM_001369.3(DNAH5):c.*1298T>A rs917055972 0.00002
NM_001369.3(DNAH5):c.1092A>G (p.Leu364=) rs759149687 0.00002
NM_001369.3(DNAH5):c.11465G>A (p.Arg3822Gln) rs779624238 0.00002
NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met) rs773699669 0.00002
NM_001369.3(DNAH5):c.12566C>T (p.Ala4189Val) rs138788207 0.00002
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr) rs766597612 0.00002
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg) rs886060013 0.00002
NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr) rs373727231 0.00002
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu) rs779509527 0.00002
NM_001369.3(DNAH5):c.2283A>C (p.Arg761Ser) rs1162539227 0.00002
NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu) rs774680760 0.00002
NM_001369.3(DNAH5):c.4054-4T>C rs200608915 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile) rs777579934 0.00002
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=) rs556936569 0.00002
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile) rs769656114 0.00002
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759 0.00002
NM_001369.3(DNAH5):c.6989-6T>C rs1761231844 0.00002
NM_001369.3(DNAH5):c.7098G>C (p.Arg2366=) rs768567429 0.00002
NM_001369.3(DNAH5):c.7574G>A (p.Gly2525Glu) rs1465026258 0.00002
NM_001369.3(DNAH5):c.8036T>A (p.Leu2679Gln) rs1424415934 0.00002
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu) rs773643407 0.00002
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys) rs369744828 0.00002
NM_001369.3(DNAH5):c.967C>T (p.Leu323=) rs746109550 0.00002
NM_001369.3(DNAH5):c.*355G>A rs778207515 0.00001
NM_001369.3(DNAH5):c.*883T>C rs1427522956 0.00001
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139 0.00001
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala) rs1398835710 0.00001
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile) rs376253368 0.00001
NM_001369.3(DNAH5):c.10556-15T>C rs754992743 0.00001
NM_001369.3(DNAH5):c.10738G>A (p.Gly3580Ser) rs886059972 0.00001
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met) rs376067762 0.00001
NM_001369.3(DNAH5):c.11038G>T (p.Gly3680Cys) rs777140914 0.00001
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile) rs559545340 0.00001
NM_001369.3(DNAH5):c.11349C>T (p.Val3783=) rs774415631 0.00001
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe) rs201068342 0.00001
NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=) rs1024441903 0.00001
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe) rs200798994 0.00001
NM_001369.3(DNAH5):c.11986C>T (p.Arg3996Cys) rs886059970 0.00001
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp) rs749640233 0.00001
NM_001369.3(DNAH5):c.12125G>A (p.Arg4042Gln) rs746715378 0.00001
NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=) rs776715085 0.00001
NM_001369.3(DNAH5):c.12502G>A (p.Val4168Ile) rs747409181 0.00001
NM_001369.3(DNAH5):c.12574C>A (p.His4192Asn) rs748199626 0.00001
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His) rs375694023 0.00001
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys) rs762673561 0.00001
NM_001369.3(DNAH5):c.12842T>C (p.Phe4281Ser) rs886059964 0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176 0.00001
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu) rs769666008 0.00001
NM_001369.3(DNAH5):c.1305G>A (p.Ala435=) rs766746657 0.00001
NM_001369.3(DNAH5):c.1420G>A (p.Glu474Lys) rs886060012 0.00001
NM_001369.3(DNAH5):c.1578A>G (p.Leu526=) rs1775984639 0.00001
NM_001369.3(DNAH5):c.1728A>C (p.Glu576Asp) rs769083484 0.00001
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn) rs141072655 0.00001
NM_001369.3(DNAH5):c.2432-3A>G rs1773163926 0.00001
NM_001369.3(DNAH5):c.2483T>C (p.Ile828Thr) rs769408333 0.00001
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys) rs762848961 0.00001
NM_001369.3(DNAH5):c.2951G>A (p.Arg984His) rs780758815 0.00001
NM_001369.3(DNAH5):c.2983+5T>C rs1353417066 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 0.00001
NM_001369.3(DNAH5):c.362T>C (p.Val121Ala) rs752992572 0.00001
NM_001369.3(DNAH5):c.3643G>C (p.Val1215Leu) rs763448297 0.00001
NM_001369.3(DNAH5):c.3769A>G (p.Met1257Val) rs886060007 0.00001
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala) rs761168416 0.00001
NM_001369.3(DNAH5):c.40G>A (p.Val14Ile) rs1015850611 0.00001
NM_001369.3(DNAH5):c.4116+15T>C rs201947846 0.00001
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His) rs200994058 0.00001
NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=) rs886059985 0.00001
NM_001369.3(DNAH5):c.4855A>G (p.Thr1619Ala) rs80164898 0.00001
NM_001369.3(DNAH5):c.5276A>G (p.Tyr1759Cys) rs762444469 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+14G>T rs756464306 0.00001
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His) rs876657782 0.00001
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val) rs778507942 0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) rs756444637 0.00001
NM_001369.3(DNAH5):c.6856C>T (p.His2286Tyr) rs201114289 0.00001
NM_001369.3(DNAH5):c.7037T>C (p.Ile2346Thr) rs757623380 0.00001
NM_001369.3(DNAH5):c.7088A>G (p.Asn2363Ser) rs910750925 0.00001
NM_001369.3(DNAH5):c.7132G>A (p.Glu2378Lys) rs1409796457 0.00001
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser) rs777962194 0.00001
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=) rs876657454 0.00001
NM_001369.3(DNAH5):c.7258G>A (p.Glu2420Lys) rs1404921254 0.00001
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met) rs766316984 0.00001
NM_001369.3(DNAH5):c.7734C>T (p.Thr2578=) rs1222953554 0.00001
NM_001369.3(DNAH5):c.8005G>T (p.Asp2669Tyr) rs773280167 0.00001
NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=) rs112594597 0.00001
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln) rs1182948401 0.00001
NM_001369.3(DNAH5):c.8449-3C>T rs772481411 0.00001
NM_001369.3(DNAH5):c.8764C>T (p.Arg2922Cys) rs369455386 0.00001
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys) rs150899380 0.00001
NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly) rs1755004469 0.00001
NM_001369.3(DNAH5):c.9347G>A (p.Arg3116Gln) rs745557874 0.00001
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly) rs762677340 0.00001
NM_001369.3(DNAH5):c.950C>T (p.Ala317Val) rs199691556 0.00001
NM_001369.3(DNAH5):c.9678G>A (p.Ala3226=) rs547729937 0.00001
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu) rs561380021 0.00001
NM_001369.3(DNAH5):c.*1119T>C rs148467464
NM_001369.3(DNAH5):c.*1342T>G rs886059931
NM_001369.3(DNAH5):c.*563G>A rs189538534
NM_001369.3(DNAH5):c.*802A>G rs886059932
NM_001369.3(DNAH5):c.*92G>A rs886059933
NM_001369.3(DNAH5):c.-8C>A rs199528866
NM_001369.3(DNAH5):c.-8C>T rs199528866
NM_001369.3(DNAH5):c.1035G>A (p.Val345=) rs150335023
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln) rs202169624
NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=) rs1750680564
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr) rs766829989
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del) rs773869600
NM_001369.3(DNAH5):c.10731C>A (p.Asn3577Lys) rs376292253
NM_001369.3(DNAH5):c.1090-6T>C rs886060015
NM_001369.3(DNAH5):c.10974A>G (p.Pro3658=) rs774653078
NM_001369.3(DNAH5):c.10983T>A (p.Asp3661Glu) rs886059971
NM_001369.3(DNAH5):c.11005A>C (p.Ile3669Leu) rs1326900384
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=) rs1580060938
NM_001369.3(DNAH5):c.11028+5G>A rs1419129615
NM_001369.3(DNAH5):c.11029G>T (p.Val3677Leu) rs2126690194
NM_001369.3(DNAH5):c.11456-7C>T rs2546564339
NM_001369.3(DNAH5):c.11468G>A (p.Gly3823Asp)
NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser) rs1060501463
NM_001369.3(DNAH5):c.12152T>C (p.Met4051Thr)
NM_001369.3(DNAH5):c.12315A>G (p.Gly4105=) rs2126519204
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.3(DNAH5):c.12500-3C>T rs1311123080
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.12586C>G (p.Gln4196Glu) rs886059965
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
NM_001369.3(DNAH5):c.12997C>A (p.Leu4333Met) rs1217758791
NM_001369.3(DNAH5):c.13114G>A (p.Val4372Ile) rs1744009916
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.13369T>G (p.Trp4457Gly) rs1427121789
NM_001369.3(DNAH5):c.1341C>T (p.His447=) rs886060014
NM_001369.3(DNAH5):c.13481C>T (p.Ala4494Val) rs756228394
NM_001369.3(DNAH5):c.13491+8C>A rs1742074967
NM_001369.3(DNAH5):c.13491+8C>T rs1742074967
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.13734T>C (p.Asp4578=) rs1740774348
NM_001369.3(DNAH5):c.13747T>C (p.Ser4583Pro) rs770287375
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp) rs770244453
NM_001369.3(DNAH5):c.13825C>A (p.Pro4609Thr) rs886059934
NM_001369.3(DNAH5):c.1405A>G (p.Ile469Val) rs754377047
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys) rs189145014
NM_001369.3(DNAH5):c.1475C>T (p.Thr492Met) rs189145014
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.1896G>T (p.Gln632His) rs746476934
NM_001369.3(DNAH5):c.2126A>G (p.Asn709Ser) rs1774434030
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr) rs1773692803
NM_001369.3(DNAH5):c.2487T>A (p.Asp829Glu) rs2151948949
NM_001369.3(DNAH5):c.2581C>T (p.Leu861Phe) rs753213789
NM_001369.3(DNAH5):c.2594G>T (p.Gly865Val) rs886060008
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile) rs1772373275
NM_001369.3(DNAH5):c.2743+12G>A rs1380292180
NM_001369.3(DNAH5):c.2780C>T (p.Ser927Leu) rs2547038533
NM_001369.3(DNAH5):c.283C>G (p.Leu95Val) rs757542755
NM_001369.3(DNAH5):c.283C>T (p.Leu95Phe) rs757542755
NM_001369.3(DNAH5):c.2867G>A (p.Arg956His) rs752260329
NM_001369.3(DNAH5):c.294A>T (p.Leu98=) rs1458038548
NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=) rs766451124
NM_001369.3(DNAH5):c.3175A>G (p.Lys1059Glu) rs1771856279
NM_001369.3(DNAH5):c.3202G>T (p.Ala1068Ser) rs200249508
NM_001369.3(DNAH5):c.3275T>C (p.Ile1092Thr) rs2547014381
NM_001369.3(DNAH5):c.3304C>A (p.Gln1102Lys) rs774143246
NM_001369.3(DNAH5):c.4054-12C>G rs1769241274
NM_001369.3(DNAH5):c.4171C>A (p.Leu1391Ile) rs1000047685
NM_001369.3(DNAH5):c.4199C>T (p.Pro1400Leu) rs922374480
NM_001369.3(DNAH5):c.4225C>G (p.Leu1409Val)
NM_001369.3(DNAH5):c.4324A>G (p.Ile1442Val) rs371141184
NM_001369.3(DNAH5):c.4341A>T (p.Leu1447Phe) rs1769139958
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu) rs144958262
NM_001369.3(DNAH5):c.4474A>G (p.Met1492Val) rs1768940067
NM_001369.3(DNAH5):c.4498A>G (p.Thr1500Ala) rs886059989
NM_001369.3(DNAH5):c.4556T>A (p.Ile1519Asn) rs371453794
NM_001369.3(DNAH5):c.4704T>C (p.Arg1568=) rs1175413447
NM_001369.3(DNAH5):c.4756G>A (p.Glu1586Lys) rs2151905632
NM_001369.3(DNAH5):c.5022T>A (p.Ser1674Arg) rs758627759
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.3(DNAH5):c.5272-16_5272-15dup
NM_001369.3(DNAH5):c.5272-9C>T rs555481241
NM_001369.3(DNAH5):c.536C>A (p.Thr179Lys) rs747116308
NM_001369.3(DNAH5):c.5538T>G (p.Leu1846=) rs886059978
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=) rs763656985
NM_001369.3(DNAH5):c.5614G>A (p.Asp1872Asn) rs2151860259
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val) rs754033261
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=) rs1764848840
NM_001369.3(DNAH5):c.5926G>A (p.Gly1976Arg)
NM_001369.3(DNAH5):c.6049C>G (p.Arg2017Gly) rs143679999
NM_001369.3(DNAH5):c.6070C>A (p.Gln2024Lys) rs989184330
NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro) rs777013412
NM_001369.3(DNAH5):c.6349G>T (p.Val2117Leu) rs1763365674
NM_001369.3(DNAH5):c.661-8C>T rs1227311322
NM_001369.3(DNAH5):c.6705A>T (p.Leu2235Phe) rs765945557
NM_001369.3(DNAH5):c.7018C>A (p.Pro2340Thr) rs202082284
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=) rs747529694
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly) rs201469471
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser) rs112103817
NM_001369.3(DNAH5):c.7408-14T>C rs1454703878
NM_001369.3(DNAH5):c.7449G>A (p.Leu2483=) rs886059974
NM_001369.3(DNAH5):c.7511T>G (p.Leu2504Arg) rs1344694038
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.7636A>T (p.Thr2546Ser)
NM_001369.3(DNAH5):c.765T>C (p.Asp255=) rs767772613
NM_001369.3(DNAH5):c.7748G>T (p.Gly2583Val) rs2127006063
NM_001369.3(DNAH5):c.777A>G (p.Val259=) rs1580893242
NM_001369.3(DNAH5):c.7786A>C (p.Lys2596Gln) rs1759848562
NM_001369.3(DNAH5):c.7825C>A (p.Pro2609Thr) rs886059973
NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=) rs748304927
NM_001369.3(DNAH5):c.796C>T (p.Gln266Ter) rs748605406
NM_001369.3(DNAH5):c.8072C>T (p.Pro2691Leu) rs2546743777
NM_001369.3(DNAH5):c.8153A>G (p.Gln2718Arg) rs1757348928
NM_001369.3(DNAH5):c.8168A>T (p.Gln2723Leu) rs201935354
NM_001369.3(DNAH5):c.8217G>C (p.Lys2739Asn) rs375287005
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His) rs199643592
NM_001369.3(DNAH5):c.8324A>G (p.Gln2775Arg) rs2126900531
NM_001369.3(DNAH5):c.8668G>C (p.Asp2890His) rs1756005971
NM_001369.3(DNAH5):c.8821-14G>A rs769508388
NM_001369.3(DNAH5):c.8905G>T (p.Ala2969Ser) rs756306722
NM_001369.3(DNAH5):c.8982T>G (p.Asp2994Glu) rs773014523
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu) rs113742238
NM_001369.3(DNAH5):c.9245T>C (p.Leu3082Pro) rs1489151063
NM_001369.3(DNAH5):c.9373+5G>T
NM_001369.3(DNAH5):c.9552C>A (p.Gly3184=) rs149749266
NM_001369.3(DNAH5):c.9573A>G (p.Glu3191=) rs373510512
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.3(DNAH5):c.972G>A (p.Leu324=) rs757404057
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val) rs780887847
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.3(DNAH5):c.9850C>A (p.Leu3284Met) rs1752912351
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) rs770166503
NM_001369.3(DNAH5):c.9912G>A (p.Ser3304=) rs188218914
NM_001369.3(DNAH5):c.9955A>G (p.Ile3319Val) rs1752483044
NM_001369.3(DNAH5):c.9956T>G (p.Ile3319Ser) rs2126762596
NM_001369.3(DNAH5):c.[2577+5T>G;5413C>T]
NM_004380.3(CREBBP):c.2891C>T (p.Ala964Val)

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