ClinVar Miner

List of variants in gene DNAH5 reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 281
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HGVS dbSNP
NM_001369.2(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139
NM_001369.2(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313
NM_001369.2(DNAH5):c.10044C>T (p.Pro3348=) rs369902800
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.10195G>A (p.Val3399Ile) rs749397968
NM_001369.2(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845
NM_001369.2(DNAH5):c.10347C>T (p.Ala3449=) rs150773884
NM_001369.2(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015
NM_001369.2(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972
NM_001369.2(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941
NM_001369.2(DNAH5):c.10473G>A (p.Thr3491=) rs2401809
NM_001369.2(DNAH5):c.10646A>G (p.Glu3549Gly) rs758546967
NM_001369.2(DNAH5):c.10658G>A (p.Arg3553Gln)
NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) rs397515540
NM_001369.2(DNAH5):c.11130T>C (p.Arg3710=) rs765391783
NM_001369.2(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.1126G>T (p.Ala376Ser) rs201469505
NM_001369.2(DNAH5):c.11376C>T (p.Ala3792=) rs755149967
NM_001369.2(DNAH5):c.11414C>A (p.Thr3805Lys) rs1554027892
NM_001369.2(DNAH5):c.11463G>A (p.Thr3821=) rs200744540
NM_001369.2(DNAH5):c.11476C>T (p.Leu3826Phe) rs146750552
NM_001369.2(DNAH5):c.11512G>A (p.Glu3838Lys)
NM_001369.2(DNAH5):c.11974G>C (p.Asp3992His) rs143251480
NM_001369.2(DNAH5):c.1198G>A (p.Val400Met) rs144575803
NM_001369.2(DNAH5):c.12033+7A>C rs77541151
NM_001369.2(DNAH5):c.12033+7A>G rs77541151
NM_001369.2(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270
NM_001369.2(DNAH5):c.12076G>A (p.Glu4026Lys) rs776854779
NM_001369.2(DNAH5):c.12105G>A (p.Thr4035=) rs199735129
NM_001369.2(DNAH5):c.12123A>C (p.Pro4041=) rs149580135
NM_001369.2(DNAH5):c.12151A>G (p.Met4051Val) rs138162689
NM_001369.2(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.2(DNAH5):c.12401C>T (p.Ala4134Val) rs30168
NM_001369.2(DNAH5):c.12465A>G (p.Gln4155=) rs34924315
NM_001369.2(DNAH5):c.12468A>C (p.Gly4156=) rs30169
NM_001369.2(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672
NM_001369.2(DNAH5):c.12523G>A (p.Val4175Met) rs148123430
NM_001369.2(DNAH5):c.12558C>T (p.Tyr4186=) rs748817131
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.12709G>T (p.Val4237Phe) rs138045391
NM_001369.2(DNAH5):c.12734T>C (p.Met4245Thr) rs766597612
NM_001369.2(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176
NM_001369.2(DNAH5):c.1290A>G (p.Glu430=) rs990691780
NM_001369.2(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057
NM_001369.2(DNAH5):c.13005C>T (p.Thr4335=) rs755271975
NM_001369.2(DNAH5):c.13065G>C (p.Val4355=) rs372488592
NM_001369.2(DNAH5):c.13071C>T (p.Ala4357=) rs10077457
NM_001369.2(DNAH5):c.13077G>A (p.Leu4359=) rs148805204
NM_001369.2(DNAH5):c.13095G>A (p.Glu4365=) rs372604448
NM_001369.2(DNAH5):c.13125+10T>A rs2277047
NM_001369.2(DNAH5):c.13155A>T (p.Pro4385=) rs202103048
NM_001369.2(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611
NM_001369.2(DNAH5):c.13276G>A (p.Glu4426Lys)
NM_001369.2(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047
NM_001369.2(DNAH5):c.1329G>A (p.Gln443=) rs141621142
NM_001369.2(DNAH5):c.13331G>T (p.Trp4444Leu) rs1060501467
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.13410G>A (p.Ser4470=) rs368920785
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) 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.13486C>T (p.Arg4496Ter) rs200901816
NM_001369.2(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.2(DNAH5):c.13569C>T (p.Asp4523=) 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.1395C>T (p.Ser465=) rs34580014
NM_001369.2(DNAH5):c.1431C>T (p.His477=) rs1028207982
NM_001369.2(DNAH5):c.1475C>T (p.Thr492Met)
NM_001369.2(DNAH5):c.1503T>C (p.Ile501=) rs3213936
NM_001369.2(DNAH5):c.1612G>A (p.Glu538Lys) rs141651575
NM_001369.2(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202
NM_001369.2(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176
NM_001369.2(DNAH5):c.1647C>T (p.Asn549=) rs139160176
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.1752T>C (p.Gly584=) rs201028861
NM_001369.2(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077
NM_001369.2(DNAH5):c.1810T>C (p.Ser604Pro)
NM_001369.2(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967
NM_001369.2(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.2(DNAH5):c.1904A>G (p.His635Arg)
NM_001369.2(DNAH5):c.1955G>A (p.Ser652Asn) rs749126116
NM_001369.2(DNAH5):c.1982G>A (p.Arg661His) rs185855852
NM_001369.2(DNAH5):c.2229T>C (p.Asp743=) rs1445823
NM_001369.2(DNAH5):c.2235C>T (p.Tyr745=) rs139916610
NM_001369.2(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914
NM_001369.2(DNAH5):c.2259+8A>G rs202137813
NM_001369.2(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997
NM_001369.2(DNAH5):c.2307C>T (p.Ala769=) rs773547505
NM_001369.2(DNAH5):c.2400G>A (p.Glu800=) rs199951976
NM_001369.2(DNAH5):c.2462A>G (p.Asn821Ser) rs750670743
NM_001369.2(DNAH5):c.2578-7del rs71600031
NM_001369.2(DNAH5):c.2578-8_2578-7del rs71600031
NM_001369.2(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.2(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167
NM_001369.2(DNAH5):c.2891A>T (p.His964Leu) rs199698421
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.3064G>A (p.Val1022Ile) rs375218798
NM_001369.2(DNAH5):c.3112G>A (p.Val1038Met) rs146828513
NM_001369.2(DNAH5):c.3154A>C (p.Ser1052Arg)
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.3302T>C (p.Val1101Ala) rs376453450
NM_001369.2(DNAH5):c.3427C>T (p.Arg1143Cys)
NM_001369.2(DNAH5):c.349G>A (p.Glu117Lys) rs116128702
NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110
NM_001369.2(DNAH5):c.360T>C (p.Asp120=) rs368412855
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.3734G>A (p.Arg1245His) rs77939839
NM_001369.2(DNAH5):c.3760C>T (p.Arg1254Trp)
NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391
NM_001369.2(DNAH5):c.3777G>A (p.Ala1259=) rs144893234
NM_001369.2(DNAH5):c.378A>G (p.Val126=) rs377275027
NM_001369.2(DNAH5):c.3835-3del rs35398031
NM_001369.2(DNAH5):c.3897T>C (p.Val1299=) rs749416187
NM_001369.2(DNAH5):c.3905del (p.Leu1302fs) rs754698253
NM_001369.2(DNAH5):c.39C>T (p.Ser13=) rs370788337
NM_001369.2(DNAH5):c.4054-4T>C rs200608915
NM_001369.2(DNAH5):c.4071C>T (p.Ser1357=) rs201264488
NM_001369.2(DNAH5):c.4082C>G (p.Pro1361Arg)
NM_001369.2(DNAH5):c.4152A>G (p.Thr1384=) rs7703349
NM_001369.2(DNAH5):c.4319A>C (p.Glu1440Ala) rs147322363
NM_001369.2(DNAH5):c.4331A>G (p.Asn1444Ser) rs567013299
NM_001369.2(DNAH5):c.4338C>G (p.Leu1446=) rs377432140
NM_001369.2(DNAH5):c.4374G>T (p.Arg1458=) rs6554827
NM_001369.2(DNAH5):c.438+5G>C rs776343117
NM_001369.2(DNAH5):c.4431C>T (p.Ser1477=) rs74451896
NM_001369.2(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955
NM_001369.2(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667
NM_001369.2(DNAH5):c.4525G>A (p.Val1509Met) rs140345677
NM_001369.2(DNAH5):c.4596+5A>C rs182677317
NM_001369.2(DNAH5):c.4689C>T (p.Gly1563=) rs375658702
NM_001369.2(DNAH5):c.4836G>A (p.Val1612=) rs34671383
NM_001369.2(DNAH5):c.4877T>C (p.Met1626Thr) rs753163103
NM_001369.2(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941
NM_001369.2(DNAH5):c.4995C>T (p.Ile1665=) rs748438142
NM_001369.2(DNAH5):c.5114+1G>C rs878854457
NM_001369.2(DNAH5):c.5115-4G>T rs141141086
NM_001369.2(DNAH5):c.5115-5T>C rs4429853
NM_001369.2(DNAH5):c.5146C>T (p.Arg1716Trp) rs368644722
NM_001369.2(DNAH5):c.5157C>T (p.Phe1719=) rs749688197
NM_001369.2(DNAH5):c.5172C>T (p.Ala1724=) rs10041113
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_001369.2(DNAH5):c.5198C>T (p.Ser1733Leu) rs146087064
NM_001369.2(DNAH5):c.5199G>A (p.Ser1733=) rs142806046
NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) rs35963491
NM_001369.2(DNAH5):c.5272-9C>T rs555481241
NM_001369.2(DNAH5):c.5281C>A (p.Arg1761=) rs148891849
NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849
NM_001369.2(DNAH5):c.537G>A (p.Thr179=) rs370805321
NM_001369.2(DNAH5):c.5392T>C (p.Ser1798Pro) rs1060501468
NM_001369.2(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986
NM_001369.2(DNAH5):c.5476C>G (p.Pro1826Ala) rs928564123
NM_001369.2(DNAH5):c.5518C>T (p.Arg1840Trp) rs760640325
NM_001369.2(DNAH5):c.553G>A (p.Glu185Lys) rs752339132
NM_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094
NM_001369.2(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.2(DNAH5):c.5647C>T (p.Arg1883Ter) rs575017579
NM_001369.2(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264
NM_001369.2(DNAH5):c.5692G>A (p.Asp1898Asn)
NM_001369.2(DNAH5):c.5707C>T (p.Leu1903=) rs7719896
NM_001369.2(DNAH5):c.5710-2A>G rs548521732
NM_001369.2(DNAH5):c.5714A>G (p.His1905Arg)
NM_001369.2(DNAH5):c.574G>A (p.Ala192Thr) rs140700961
NM_001369.2(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154
NM_001369.2(DNAH5):c.6018T>C (p.Cys2006=) rs368456533
NM_001369.2(DNAH5):c.6061+10A>G rs77957856
NM_001369.2(DNAH5):c.6062-4G>A rs143392650
NM_001369.2(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759
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.636T>G (p.Gly212=) rs376360357
NM_001369.2(DNAH5):c.6381C>T (p.Asn2127=) rs767344710
NM_001369.2(DNAH5):c.6444+8A>G rs1348690
NM_001369.2(DNAH5):c.6579+20G>A rs115382993
NM_001369.2(DNAH5):c.6579+6A>G rs141389162
NM_001369.2(DNAH5):c.660+9G>A rs762915801
NM_001369.2(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993
NM_001369.2(DNAH5):c.6747C>T (p.Phe2249=) rs568499996
NM_001369.2(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881
NM_001369.2(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036
NM_001369.2(DNAH5):c.71G>A (p.Gly24Glu) rs1530496
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.7502G>C (p.Arg2501Pro) rs78853309
NM_001369.2(DNAH5):c.7515G>A (p.Glu2505=) rs1032671138
NM_001369.2(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.2(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169
NM_001369.2(DNAH5):c.7602G>T (p.Ala2534=) rs770309996
NM_001369.2(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187
NM_001369.2(DNAH5):c.7752+10T>C rs149460805
NM_001369.2(DNAH5):c.7752+3A>G rs200385399
NM_001369.2(DNAH5):c.7888-4A>G rs775268409
NM_001369.2(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875
NM_001369.2(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124
NM_001369.2(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883
NM_001369.2(DNAH5):c.8167C>T (p.Gln2723Ter) rs1309660408
NM_001369.2(DNAH5):c.8190G>A (p.Thr2730=) rs752656841
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.8314C>T (p.Arg2772Ter) rs781469274
NM_001369.2(DNAH5):c.8353C>T (p.Pro2785Ser)
NM_001369.2(DNAH5):c.841G>A (p.Val281Ile) rs548585661
NM_001369.2(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231
NM_001369.2(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301
NM_001369.2(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155
NM_001369.2(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.8772C>T (p.Ala2924=) rs552458966
NM_001369.2(DNAH5):c.8820+6G>A
NM_001369.2(DNAH5):c.8821-7A>G rs776228125
NM_001369.2(DNAH5):c.8837G>A (p.Arg2946His) rs140975593
NM_001369.2(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221
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.8960A>T (p.Asn2987Ile) rs149489069
NM_001369.2(DNAH5):c.8998C>T (p.Arg3000Ter) rs769054713
NM_001369.2(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961
NM_001369.2(DNAH5):c.9111T>C (p.Ser3037=) rs765029802
NM_001369.2(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.2(DNAH5):c.9150C>T (p.Ser3050=) rs77477793
NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121
NM_001369.2(DNAH5):c.9213C>T (p.His3071=) rs563907105
NM_001369.2(DNAH5):c.9230G>A (p.Arg3077Gln) rs113742238
NM_001369.2(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600
NM_001369.2(DNAH5):c.9287G>A (p.Arg3096Gln) rs1388732051
NM_001369.2(DNAH5):c.935T>G (p.Val312Gly) rs762677340
NM_001369.2(DNAH5):c.9461A>C (p.Asp3154Ala) rs149187750
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.9549G>A (p.Gln3183=) rs147865593
NM_001369.2(DNAH5):c.9589C>T (p.Arg3197Trp) rs753913853
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001369.2(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.2(DNAH5):c.9714C>T (p.Ala3238=) rs375561333
NM_001369.2(DNAH5):c.9720+5G>A rs763440781
NM_001369.2(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.2(DNAH5):c.9897+9A>G rs774932799
NM_001369.2(DNAH5):c.9911C>T (p.Ser3304Leu) rs139821753
NM_001369.2(DNAH5):c.9941G>A (p.Arg3314His) rs143858741
NM_001369.3(DNAH5):c.10301A>G (p.Glu3434Gly)
NM_001369.3(DNAH5):c.1165A>G (p.Thr389Ala)
NM_001369.3(DNAH5):c.11803T>C (p.Ser3935Pro)
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp)
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=)
NM_001369.3(DNAH5):c.13513G>T (p.Gly4505Cys)
NM_001369.3(DNAH5):c.13535T>C (p.Val4512Ala)
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=)
NM_001369.3(DNAH5):c.13765A>G (p.Lys4589Glu)
NM_001369.3(DNAH5):c.1678G>A (p.Ala560Thr)
NM_001369.3(DNAH5):c.1913A>G (p.Gln638Arg)
NM_001369.3(DNAH5):c.1967C>T (p.Ala656Val)
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)
NM_001369.3(DNAH5):c.259G>A (p.Val87Met)
NM_001369.3(DNAH5):c.3043A>G (p.Thr1015Ala)
NM_001369.3(DNAH5):c.356A>G (p.Asn119Ser)
NM_001369.3(DNAH5):c.4042G>T (p.Asp1348Tyr)
NM_001369.3(DNAH5):c.4355+5G>A
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val)
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)
NM_001369.3(DNAH5):c.660+10A>G
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val)
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=)
NM_001369.3(DNAH5):c.7445G>A (p.Arg2482Gln)
NM_001369.3(DNAH5):c.7583C>T (p.Ala2528Val)
NM_001369.3(DNAH5):c.8029C>T rs775946081
NM_001369.3(DNAH5):c.882C>T (p.Leu294=)
NM_001369.3(DNAH5):c.912G>A (p.Leu304=)
NM_001369.3(DNAH5):c.9871T>C (p.Leu3291=)

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