ClinVar Miner

List of variants in gene DNAH5 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_001369.3(DNAH5):c.11762-45T>C rs3777093 0.60391
NM_001369.3(DNAH5):c.11570+35A>G rs3734109 0.57196
NM_001369.3(DNAH5):c.13724-35T>A rs2166337 0.55064
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val) rs3734110 0.53284
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=) rs1445823 0.53068
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997 0.50396
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=) rs7703349 0.48933
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=) rs3734111 0.48605
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val) rs30168 0.44440
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=) rs3213936 0.43495
NM_001369.3(DNAH5):c.1198-24C>A rs13180591 0.43394
NM_001369.3(DNAH5):c.1198-45A>G rs13162553 0.43382
NM_001369.3(DNAH5):c.192+14C>G rs1530497 0.41173
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=) rs10041113 0.40226
NM_001369.3(DNAH5):c.5115-5T>C rs4429853 0.40224
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=) rs1348689 0.40167
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=) rs30169 0.40053
NM_001369.3(DNAH5):c.6444+11C>T rs1348691 0.39914
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu) rs1530496 0.39883
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=) rs6554827 0.39500
NM_001369.3(DNAH5):c.4796+41G>A rs7704417 0.39490
NM_001369.3(DNAH5):c.12910-11C>T rs30175 0.39090
NM_001369.3(DNAH5):c.7609+19C>T rs35732567 0.37414
NM_001369.3(DNAH5):c.5114+11T>C rs6554820 0.37240
NM_001369.3(DNAH5):c.9721-12A>T rs12655133 0.35219
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34838
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala) rs1530498 0.34505
NM_001369.3(DNAH5):c.5272-39T>A rs1910089 0.34183
NM_001369.3(DNAH5):c.5114+22A>T rs4701988 0.33456
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=) rs6554812 0.30832
NM_001369.3(DNAH5):c.10102-29C>T rs6554813 0.30675
NM_001369.3(DNAH5):c.3175-34G>A rs13170062 0.26940
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=) rs10057007 0.25350
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155 0.23716
NM_001369.3(DNAH5):c.7230+32A>G rs56046501 0.23667
NM_001369.3(DNAH5):c.975+30A>C rs35925547 0.22429
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391 0.20605
NM_001369.3(DNAH5):c.6688-48C>T rs6554817 0.20082
NM_001369.3(DNAH5):c.4053+32C>T rs13156044 0.12402
NM_001369.3(DNAH5):c.12034-24T>C rs17203442 0.11146
NM_001369.3(DNAH5):c.3834+40C>T rs35621834 0.10565
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046 0.09802
NM_001369.3(DNAH5):c.4117-39T>G rs11958022 0.09416
NM_001369.3(DNAH5):c.13491+37A>G rs10069041 0.06931
NM_001369.3(DNAH5):c.5114+30G>T rs795527 0.06613
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437 0.03898
NM_001369.3(DNAH5):c.6842-22A>G rs17265718 0.03346
NM_001369.3(DNAH5):c.1197+29A>G rs78594685 0.03163
NM_001369.3(DNAH5):c.6444+8A>G rs1348690 0.02931
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077 0.02877
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=) rs34580014 0.02846
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_001369.3(DNAH5):c.8449-12T>C rs111313933 0.02531
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=) rs35233147 0.02485
NM_001369.3(DNAH5):c.58-13T>C rs115758625 0.02407
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=) rs111995400 0.02321
NM_001369.3(DNAH5):c.976-31C>T rs74388007 0.02309
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His) rs35900306 0.02307
NM_001369.3(DNAH5):c.7752+24C>T rs112778044 0.02226
NM_001369.3(DNAH5):c.4116+45T>C rs11958721 0.02166
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=) rs74451896 0.02161
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=) rs10077457 0.02135
NM_001369.3(DNAH5):c.1537-50G>A rs150679902 0.01752
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_001369.3(DNAH5):c.6989-13T>C rs112344370 0.01579
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001369.3(DNAH5):c.13126-39G>A rs78940762 0.01324
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001369.3(DNAH5):c.3598+20T>C rs114961699 0.01057
NM_001369.3(DNAH5):c.13338+16C>T rs115271897 0.01021
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_001369.3(DNAH5):c.6061+10A>G rs77957856 0.00962
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_001369.3(DNAH5):c.12280-17T>C rs10214399 0.00956
NM_001369.3(DNAH5):c.5484+17T>C rs16902828 0.00937
NM_001369.3(DNAH5):c.6579+20G>A rs115382993 0.00928
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 0.00808
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057 0.00713
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=) rs140498500 0.00702
NM_001369.3(DNAH5):c.2052+22C>A rs150480592 0.00621
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_001369.3(DNAH5):c.5115-4G>T rs141141086 0.00551
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=) rs77477793 0.00527
NM_001369.3(DNAH5):c.9373+38G>A rs116721273 0.00451
NM_001369.3(DNAH5):c.12279+50A>G rs141368864 0.00440
NM_001369.3(DNAH5):c.5707C>T (p.Leu1903=) rs7719896 0.00439
NM_001369.3(DNAH5):c.6062-4G>A rs143392650 0.00433
NM_001369.3(DNAH5):c.2053-23A>C rs114717951 0.00416
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849 0.00388
NM_001369.3(DNAH5):c.5709+18G>T rs111904415 0.00348
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.10457T>C (p.Met3486Thr) rs141651941 0.00285
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
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.7752+10T>C rs149460805 0.00253
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=) rs138639741 0.00252
NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile) rs77874614 0.00250
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val) rs34920399 0.00249
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00205
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.9244C>A (p.Leu3082Ile) rs147372600 0.00180
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_001369.3(DNAH5):c.3363T>G (p.Ser1121=) rs58266192 0.00179
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=) rs144748846 0.00176
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.5882+6G>A rs377640010 0.00158
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001369.3(DNAH5):c.6039A>C (p.Arg2013=) rs112102932 0.00132
NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=) rs149045168 0.00128
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00124
NM_001369.3(DNAH5):c.7753-9C>G rs377367981 0.00122
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_001369.3(DNAH5):c.2355C>T (p.Leu785=) rs112238091 0.00114
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.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp) rs114220185 0.00096
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551 0.00081
NM_001369.3(DNAH5):c.2578-36A>T rs199959119 0.00079
NM_001369.3(DNAH5):c.1645-26C>T rs201631179 0.00073
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.6445-20A>G rs181135242 0.00068
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=) rs144893234 0.00052
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=) rs151274810 0.00046
NM_001369.3(DNAH5):c.2067T>C (p.His689=) rs140630779 0.00037
NM_001369.3(DNAH5):c.3843T>C (p.Tyr1281=) rs146492613 0.00037
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_001369.3(DNAH5):c.11570+8T>C rs369789559 0.00031
NM_001369.3(DNAH5):c.507G>A (p.Ser169=) rs146663590 0.00030
NM_001369.3(DNAH5):c.4054-20T>C rs371107640 0.00029
NM_001369.3(DNAH5):c.8247C>T (p.Tyr2749=) rs367946282 0.00027
NM_001369.3(DNAH5):c.11570+13G>A rs80199741 0.00024
NM_001369.3(DNAH5):c.12279+20T>G rs201220143 0.00024
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00024
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.12367C>T (p.His4123Tyr) rs151145750 0.00019
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001369.3(DNAH5):c.4687G>A (p.Gly1563Ser) rs147567352 0.00015
NM_001369.3(DNAH5):c.13492-15T>C rs192514899 0.00014
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311 0.00014
NM_001369.3(DNAH5):c.4053+13C>T rs543363871 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974 0.00008
NM_001369.3(DNAH5):c.11211+42T>C rs375467545 0.00007
NM_001369.3(DNAH5):c.10035T>C (p.Cys3345=) rs150268680 0.00006
NM_001369.3(DNAH5):c.2577+5T>C rs201596289 0.00006
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr) rs749503841 0.00006
NM_001369.3(DNAH5):c.3396+24C>T rs752204434 0.00006
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe) rs767853104 0.00006
NM_001369.3(DNAH5):c.5485-11A>G rs372860402 0.00006
NM_001369.3(DNAH5):c.573C>T (p.Asp191=) rs773770450 0.00006
NM_001369.3(DNAH5):c.5907T>C (p.Ala1969=) rs569572855 0.00006
NM_001369.3(DNAH5):c.192+19C>T rs374317093 0.00005
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00004
NM_001369.3(DNAH5):c.558C>T (p.Leu186=) rs145895917 0.00004
NM_001369.3(DNAH5):c.11571-9A>G rs779715252 0.00003
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile) rs749397968 0.00002
NM_001369.3(DNAH5):c.11570+4C>T rs771601699 0.00002
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759 0.00002
NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=) rs771511314 0.00002
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=) rs188428209 0.00001
NM_001369.3(DNAH5):c.11631C>T (p.Tyr3877=) rs776957889 0.00001
NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn) rs749548708 0.00001
NM_001369.3(DNAH5):c.13724-7T>G rs775698729 0.00001
NM_001369.3(DNAH5):c.348C>T (p.Thr116=) rs775947029 0.00001
NM_001369.3(DNAH5):c.3861T>C (p.Tyr1287=) rs764026489 0.00001
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His) rs876657782 0.00001
NM_001369.3(DNAH5):c.6579+3A>G rs727502976 0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) rs756216163 0.00001
NM_001369.3(DNAH5):c.-8C>T rs199528866
NM_001369.3(DNAH5):c.10197A>C (p.Val3399=) rs756720477
NM_001369.3(DNAH5):c.10545A>G (p.Lys3515=) rs727502972
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.11034A>G (p.Lys3678=) rs886038477
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.12279+48T>A rs755911946
NM_001369.3(DNAH5):c.12279+6G>C rs762179184
NM_001369.3(DNAH5):c.12690C>T (p.Asp4230=) rs531483632
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.2052+6_2052+7delinsAG rs1057518277
NM_001369.3(DNAH5):c.2229T>G (p.Asp743Glu) rs1445823
NM_001369.3(DNAH5):c.2577+5T>G rs201596289
NM_001369.3(DNAH5):c.2578-10_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-8_2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.3(DNAH5):c.269C>A (p.Ala90Glu) rs758559495
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
NM_001369.3(DNAH5):c.3835-3del rs35398031
NM_001369.3(DNAH5):c.3890A>G (p.Asp1297Gly) rs886038478
NM_001369.3(DNAH5):c.4254G>A (p.Leu1418=) rs548183364
NM_001369.3(DNAH5):c.4356-3_4356-2del rs886038479
NM_001369.3(DNAH5):c.5115-14del rs774650371
NM_001369.3(DNAH5):c.5115-49G>C rs10041099
NM_001369.3(DNAH5):c.5272-15del rs35337694
NM_001369.3(DNAH5):c.5272-16_5272-15del rs35337694
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=) rs876657454
NM_001369.3(DNAH5):c.7888-40G>A rs886038480
NM_001369.3(DNAH5):c.7888-6dup rs745582136
NM_001369.3(DNAH5):c.8128G>A (p.Gly2710Ser) rs1219540537
NM_001369.3(DNAH5):c.9147T>C (p.Asn3049=) rs886038481
NM_001369.3(DNAH5):c.9374-22C>T rs886038482
NM_001369.3(DNAH5):c.9721-12A>G rs12655133

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