ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP
NM_001369.2(DNAH5):c.*1048A>G rs2896111
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.*1389C>T rs77701143
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.*649G>C rs77289648
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.10140A>G (p.Glu3380=) rs6554812
NM_001369.2(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845
NM_001369.2(DNAH5):c.10473G>A (p.Thr3491=) rs2401809
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.10815delT (p.Pro3606Hisfs) rs397515540
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.12033+7A>G rs77541151
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.12401C>T (p.Ala4134Val) rs30168
NM_001369.2(DNAH5):c.12468A>C (p.Gly4156=) rs30169
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.12658A>G (p.Thr4220Ala) rs2277046
NM_001369.2(DNAH5):c.12708T>C (p.Gly4236=) rs61744054
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.12910-11C>T rs30175
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.13071C>T (p.Ala4357=) rs10077457
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.13348A>G (p.Ile4450Val) rs3734110
NM_001369.2(DNAH5):c.13359A>G (p.Thr4453=) rs3734111
NM_001369.2(DNAH5):c.1341C>T (p.His447=) rs886060014
NM_001369.2(DNAH5):c.13458dupT (p.Asn4487Terfs) rs775696136
NM_001369.2(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437
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.1395C>T (p.Ser465=) rs34580014
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.1503T>C (p.Ile501=) rs3213936
NM_001369.2(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202
NM_001369.2(DNAH5):c.1644+12A>G rs201116549
NM_001369.2(DNAH5):c.1672A>G (p.Thr558Ala) rs1530498
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.1772T>G (p.Leu591Arg) rs35090077
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.192+14C>G rs1530497
NM_001369.2(DNAH5):c.2203G>C (p.Ala735Pro) rs150793327
NM_001369.2(DNAH5):c.2229T>C (p.Asp743=) rs1445823
NM_001369.2(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914
NM_001369.2(DNAH5):c.2260-12A>G rs184701603
NM_001369.2(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997
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_2578-6delTG rs1491199769
NM_001369.2(DNAH5):c.2578-8_2578-6delTTG rs886060011
NM_001369.2(DNAH5):c.2578-9_2578-7delTTT rs71600031
NM_001369.2(DNAH5):c.2594G>T (p.Gly865Val) rs886060008
NM_001369.2(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167
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.3016A>G (p.Ser1006Gly) rs16902886
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.3241A>G (p.Met1081Val) rs16902880
NM_001369.2(DNAH5):c.3258T>C (p.Leu1086=) rs10057007
NM_001369.2(DNAH5):c.3301G>A (p.Val1101Met) rs61747516
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.36T>G (p.His12Gln) rs339445
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.3835-3delT rs35398031
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.4152A>G (p.Thr1384=) rs7703349
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.4374G>T (p.Arg1458=) rs6554827
NM_001369.2(DNAH5):c.4431C>T (p.Ser1477=) rs74451896
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.5114+11T>C rs6554820
NM_001369.2(DNAH5):c.5115-5T>C rs4429853
NM_001369.2(DNAH5):c.5172C>T (p.Ala1724=) rs10041113
NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) rs35963491
NM_001369.2(DNAH5):c.5272-13dupG rs886059980
NM_001369.2(DNAH5):c.5272-15delT rs35337694
NM_001369.2(DNAH5):c.5272-15dupT rs35337694
NM_001369.2(DNAH5):c.5272-17_5272-15dupTTT rs35337694
NM_001369.2(DNAH5):c.5272-8dupT 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
NM_001369.2(DNAH5):c.58-13T>C rs115758625
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.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.624C>T (p.Asn208=) rs139640247
NM_001369.2(DNAH5):c.6264C>T (p.Ala2088=) rs1348689
NM_001369.2(DNAH5):c.6444+11C>T rs1348691
NM_001369.2(DNAH5):c.6444+8A>G rs1348690
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.71G>A (p.Gly24Glu) rs1530496
NM_001369.2(DNAH5):c.7206C>A (p.Ile2402=) rs747529694
NM_001369.2(DNAH5):c.7274G>A (p.Arg2425His) rs35900306
NM_001369.2(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391
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.8440_8447delGAACCAAA (p.Glu2814Terfs) rs755136231
NM_001369.2(DNAH5):c.8449-12T>C rs111313933
NM_001369.2(DNAH5):c.8449-3C>T rs772481411
NM_001369.2(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155
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.8898G>A (p.Thr2966=) rs111995400
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.9522G>A (p.Thr3174=) rs35233147
NM_001369.2(DNAH5):c.967C>T (p.Leu323=) rs746109550
NM_001369.2(DNAH5):c.9721-12A>T rs12655133
NM_001369.2(DNAH5):c.9941G>A (p.Arg3314His) rs143858741

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