ClinVar Miner

List of variants in gene DNAH5 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 155
Download table as spreadsheet
HGVS dbSNP
NM_001369.2(DNAH5):c.*1119T>C rs148467464
NM_001369.2(DNAH5):c.*1156C>T rs115907706
NM_001369.2(DNAH5):c.*1342T>G rs886059931
NM_001369.2(DNAH5):c.*1361G>T rs886059930
NM_001369.2(DNAH5):c.*1502C>T rs144265705
NM_001369.2(DNAH5):c.*1506G>A rs574438524
NM_001369.2(DNAH5):c.*1613G>A rs763635720
NM_001369.2(DNAH5):c.*426C>T rs541323896
NM_001369.2(DNAH5):c.*445G>A rs139979856
NM_001369.2(DNAH5):c.*563G>A rs189538534
NM_001369.2(DNAH5):c.*802A>G rs886059932
NM_001369.2(DNAH5):c.*92G>A rs886059933
NM_001369.2(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313
NM_001369.2(DNAH5):c.10066T>C (p.Leu3356=) rs138441172
NM_001369.2(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845
NM_001369.2(DNAH5):c.10556-15T>C rs754992743
NM_001369.2(DNAH5):c.10593T>A (p.Ser3531=) rs200974254
NM_001369.2(DNAH5):c.10640G>A (p.Arg3547Gln) rs779977337
NM_001369.2(DNAH5):c.10731C>A (p.Asn3577Lys) rs376292253
NM_001369.2(DNAH5):c.10738G>A (p.Gly3580Ser) rs886059972
NM_001369.2(DNAH5):c.1090-6T>C rs886060015
NM_001369.2(DNAH5):c.10974A>G (p.Pro3658=) rs774653078
NM_001369.2(DNAH5):c.10983T>A (p.Asp3661Glu) rs886059971
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.11463G>A (p.Thr3821=) rs200744540
NM_001369.2(DNAH5):c.11570+13G>A rs80199741
NM_001369.2(DNAH5):c.11571-9A>G rs779715252
NM_001369.2(DNAH5):c.11586G>A (p.Pro3862=) rs755874851
NM_001369.2(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160
NM_001369.2(DNAH5):c.11694G>T (p.Leu3898Phe) rs200798994
NM_001369.2(DNAH5):c.11761+5A>G rs780205801
NM_001369.2(DNAH5):c.11986C>T (p.Arg3996Cys) rs886059970
NM_001369.2(DNAH5):c.12234C>T (p.Gly4078=) rs886059967
NM_001369.2(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750
NM_001369.2(DNAH5):c.12396C>T (p.Thr4132=) rs776715085
NM_001369.2(DNAH5):c.12500-11G>A rs200056509
NM_001369.2(DNAH5):c.12546G>A (p.Lys4182=) rs146330391
NM_001369.2(DNAH5):c.12566C>T (p.Ala4189Val) rs138788207
NM_001369.2(DNAH5):c.12586C>G (p.Gln4196Glu) rs886059965
NM_001369.2(DNAH5):c.12631G>A (p.Glu4211Lys) rs762673561
NM_001369.2(DNAH5):c.12734T>C (p.Met4245Thr) rs766597612
NM_001369.2(DNAH5):c.12842T>C (p.Phe4281Ser) rs886059964
NM_001369.2(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057
NM_001369.2(DNAH5):c.12937G>C (p.Val4313Leu) rs769666008
NM_001369.2(DNAH5):c.13005C>T (p.Thr4335=) rs755271975
NM_001369.2(DNAH5):c.13070C>G (p.Ala4357Gly) rs368776967
NM_001369.2(DNAH5):c.13072C>T (p.Arg4358Trp) rs753960777
NM_001369.2(DNAH5):c.13155A>T (p.Pro4385=) rs202103048
NM_001369.2(DNAH5):c.1321-15T>C rs202081804
NM_001369.2(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047
NM_001369.2(DNAH5):c.1341C>T (p.His447=) rs886060014
NM_001369.2(DNAH5):c.13467G>A (p.Gln4489=) rs140498500
NM_001369.2(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.2(DNAH5):c.1362A>G (p.Lys454=) rs371157628
NM_001369.2(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216
NM_001369.2(DNAH5):c.13747T>C (p.Ser4583Pro) rs770287375
NM_001369.2(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427
NM_001369.2(DNAH5):c.13778C>T (p.Thr4593Met) rs142036266
NM_001369.2(DNAH5):c.13817C>A (p.Ala4606Asp) rs770244453
NM_001369.2(DNAH5):c.13825C>A (p.Pro4609Thr) rs886059934
NM_001369.2(DNAH5):c.1382A>G (p.Gln461Arg) rs886060013
NM_001369.2(DNAH5):c.1420G>A (p.Glu474Lys) rs886060012
NM_001369.2(DNAH5):c.1475C>A (p.Thr492Lys) rs189145014
NM_001369.2(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202
NM_001369.2(DNAH5):c.1644+12A>G rs201116549
NM_001369.2(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131
NM_001369.2(DNAH5):c.1728A>C (p.Glu576Asp) rs769083484
NM_001369.2(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967
NM_001369.2(DNAH5):c.1870G>A (p.Ala624Thr) rs373727231
NM_001369.2(DNAH5):c.2203G>C (p.Ala735Pro) rs150793327
NM_001369.2(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914
NM_001369.2(DNAH5):c.2260-12A>G rs184701603
NM_001369.2(DNAH5):c.2368G>A (p.Ala790Thr) rs201417702
NM_001369.2(DNAH5):c.2400G>A (p.Glu800=) rs199951976
NM_001369.2(DNAH5):c.2431+5G>A rs369244905
NM_001369.2(DNAH5):c.2578-5delG rs752460183
NM_001369.2(DNAH5):c.2578-7_2578-6del rs1491199769
NM_001369.2(DNAH5):c.2578-8_2578-6del rs886060011
NM_001369.2(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.2(DNAH5):c.2594G>T (p.Gly865Val) rs886060008
NM_001369.2(DNAH5):c.2984A>G (p.Asp995Gly) rs749983185
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970
NM_001369.2(DNAH5):c.3084A>G (p.Glu1028=) rs766451124
NM_001369.2(DNAH5):c.3112G>A (p.Val1038Met) rs146828513
NM_001369.2(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251
NM_001369.2(DNAH5):c.3315C>A (p.Asn1105Lys) rs144053917
NM_001369.2(DNAH5):c.3643G>C (p.Val1215Leu) rs763448297
NM_001369.2(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692
NM_001369.2(DNAH5):c.367C>T (p.Leu123Phe) rs148017278
NM_001369.2(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746
NM_001369.2(DNAH5):c.3769A>G (p.Met1257Val) rs886060007
NM_001369.2(DNAH5):c.3777G>A (p.Ala1259=) rs144893234
NM_001369.2(DNAH5):c.393C>T (p.Ile131=) rs202190908
NM_001369.2(DNAH5):c.4054-4T>C rs200608915
NM_001369.2(DNAH5):c.4139G>A (p.Arg1380Gln) rs779980906
NM_001369.2(DNAH5):c.4338C>G (p.Leu1446=) rs377432140
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001369.2(DNAH5):c.4498A>G (p.Thr1500Ala) rs886059989
NM_001369.2(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667
NM_001369.2(DNAH5):c.4596+5A>C rs182677317
NM_001369.2(DNAH5):c.465G>A (p.Ala155=) rs763709302
NM_001369.2(DNAH5):c.4703G>A (p.Arg1568His) rs200994058
NM_001369.2(DNAH5):c.4707A>G (p.Gly1569=) rs886059985
NM_001369.2(DNAH5):c.5022T>A (p.Ser1674Arg) rs758627759
NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) rs35963491
NM_001369.2(DNAH5):c.5272-13dupG rs886059980
NM_001369.2(DNAH5):c.5272-15dupT rs35337694
NM_001369.2(DNAH5):c.5272-17_5272-15dupTTT rs35337694
NM_001369.2(DNAH5):c.5272-8dup rs886059979
NM_001369.2(DNAH5):c.535A>G (p.Thr179Ala) rs755082450
NM_001369.2(DNAH5):c.536C>A (p.Thr179Lys) rs747116308
NM_001369.2(DNAH5):c.5425G>A (p.Ala1809Thr) rs758513686
NM_001369.2(DNAH5):c.5472C>T (p.Ser1824=) rs372046349
NM_001369.2(DNAH5):c.5538T>G (p.Leu1846=) rs886059978
NM_001369.2(DNAH5):c.5643G>A (p.Thr1881=) rs150429110
NM_001369.2(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264
NM_001369.2(DNAH5):c.57_57+1delGGinsAA rs1560984816
NM_001369.2(DNAH5):c.5848A>G (p.Thr1950Ala) rs368863709
NM_001369.2(DNAH5):c.5911G>A (p.Gly1971Arg) rs764973765
NM_001369.2(DNAH5):c.6018T>C (p.Cys2006=) rs368456533
NM_001369.2(DNAH5):c.6062-4G>A rs143392650
NM_001369.2(DNAH5):c.6230T>C (p.Phe2077Ser) rs141196027
NM_001369.2(DNAH5):c.624C>T (p.Asn208=) rs139640247
NM_001369.2(DNAH5):c.6454G>A (p.Asp2152Asn) rs886059975
NM_001369.2(DNAH5):c.6579+6A>G rs141389162
NM_001369.2(DNAH5):c.6705A>T (p.Leu2235Phe) rs765945557
NM_001369.2(DNAH5):c.6791G>A (p.Ser2264Asn) rs78484669
NM_001369.2(DNAH5):c.6856C>T (p.His2286Tyr) rs201114289
NM_001369.2(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881
NM_001369.2(DNAH5):c.7037T>C (p.Ile2346Thr) rs757623380
NM_001369.2(DNAH5):c.7091G>C (p.Gly2364Ala) rs373657849
NM_001369.2(DNAH5):c.7206C>A (p.Ile2402=) rs747529694
NM_001369.2(DNAH5):c.7449G>A (p.Leu2483=) rs886059974
NM_001369.2(DNAH5):c.7452C>A (p.Phe2484Leu) rs561666802
NM_001369.2(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309
NM_001369.2(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187
NM_001369.2(DNAH5):c.7825C>A (p.Pro2609Thr) rs886059973
NM_001369.2(DNAH5):c.7923T>G (p.Gly2641=) rs748304927
NM_001369.2(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883
NM_001369.2(DNAH5):c.8006A>T (p.Asp2669Val) rs770090882
NM_001369.2(DNAH5):c.8099T>C (p.Ile2700Thr) rs760739660
NM_001369.2(DNAH5):c.8268A>C (p.Ser2756=) rs775185371
NM_001369.2(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224
NM_001369.2(DNAH5):c.8449-3C>T rs772481411
NM_001369.2(DNAH5):c.8725C>T (p.Arg2909Cys) rs369744828
NM_001369.2(DNAH5):c.8726G>A (p.Arg2909His) rs756069405
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.8765G>A (p.Arg2922His) rs148539877
NM_001369.2(DNAH5):c.88C>T (p.Arg30Trp) rs114220185
NM_001369.2(DNAH5):c.894C>G (p.Asn298Lys) rs116995413
NM_001369.2(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600
NM_001369.2(DNAH5):c.946C>T (p.Leu316Phe) rs201706790
NM_001369.2(DNAH5):c.967C>T (p.Leu323=) rs746109550
NM_001369.2(DNAH5):c.9941G>A (p.Arg3314His) rs143858741

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.