ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP
NC_000005.10:g.(?_13691964)_(13944458_?)del
NC_000005.10:g.(?_13691974)_(13944448_?)del
NC_000005.10:g.(?_13718872)_(13721255_?)del
NC_000005.10:g.(?_13765956)_(13769635_?)del
NC_000005.10:g.(?_13765966)_(13769625_?)del
NC_000005.10:g.(?_13824199)_(13830775_?)del
NC_000005.10:g.(?_13830078)_(13842859_?)del
NC_000005.10:g.(?_13864377)_(13868012_?)del
NC_000005.10:g.(?_13864387)_(13868002_?)del
NC_000005.10:g.(?_13913723)_(13913978_?)del
NC_000005.10:g.13701332C>T
NC_000005.10:g.13708302G>A
NC_000005.10:g.13716583C>T
NC_000005.10:g.13718886A>T
NC_000005.10:g.13721055del
NC_000005.10:g.13721172C>T
NC_000005.10:g.13727599C>A
NC_000005.10:g.13727645_13727651del
NC_000005.10:g.13735852G>A
NC_000005.10:g.13752136T>A
NC_000005.10:g.13762807dup
NC_000005.10:g.13769079G>A
NC_000005.10:g.13777242G>T
NC_000005.10:g.13777341G>C
NC_000005.10:g.13786213_13786217dup
NC_000005.10:g.13792057del
NC_000005.10:g.13810192dup
NC_000005.10:g.13811778G>A
NC_000005.10:g.13840957G>C
NC_000005.10:g.13844961C>G
NC_000005.10:g.13844977G>A
NC_000005.10:g.13864487_13874687del
NC_000005.10:g.13867915A>C
NC_000005.10:g.13871759del
NC_000005.10:g.13882731G>A
NC_000005.10:g.13885133CTTT[1]
NC_000005.10:g.13900401_13900430del
NC_000005.10:g.13901254G>A
NC_000005.10:g.13913908del
NC_000005.10:g.13919265T>A
NC_000005.10:g.13920608G>A
NC_000005.10:g.13923291_13923292delinsC
NC_000005.9:g.(?_13792093)_(13944557_?)dup
NC_000005.9:g.(?_13817647)_(13820618_?)del
NC_000005.9:g.(?_13824302)_(13830890_?)del
NC_000005.9:g.(?_13844936)_(13845112_?)del
NC_000005.9:g.(?_13864596_13874796del
NC_000005.9:g.(?_13922434_13923774del
NC_000005.9:g.(?_13931209)_(13931363_?)del
NC_000005.9:g.13714728_13714729del
NM_001369.2(DNAH5):c.(?_-1)_(*1_?)del
NM_001369.2(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407
NM_001369.2(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972
NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500
NM_001369.2(DNAH5):c.10452_10464del (p.His3484fs) rs1580072662
NM_001369.2(DNAH5):c.10504del (p.Arg3502fs) rs1554035330
NM_001369.2(DNAH5):c.1054G>T (p.Glu352Ter)
NM_001369.2(DNAH5):c.10616G>A (p.Arg3539His) rs769458738
NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) rs397515540
NM_001369.2(DNAH5):c.10858C>T (p.Arg3620Ter) rs1283070426
NM_001369.2(DNAH5):c.1089+1G>A rs574586008
NM_001369.2(DNAH5):c.10910del (p.Leu3637fs) rs769691189
NM_001369.2(DNAH5):c.10930G>T (p.Gly3644Ter)
NM_001369.2(DNAH5):c.11029-2A>T rs369312501
NM_001369.2(DNAH5):c.11070del (p.Phe3690fs)
NM_001369.2(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160
NM_001369.2(DNAH5):c.11804C>A (p.Ser3935Ter) rs1579942510
NM_001369.2(DNAH5):c.11853del (p.Lys3951fs) rs1579942226
NM_001369.2(DNAH5):c.11907G>A (p.Trp3969Ter) rs1561122898
NM_001369.2(DNAH5):c.12265C>T (p.Gln4089Ter) rs1060501456
NM_001369.2(DNAH5):c.12287G>A (p.Trp4096Ter)
NM_001369.2(DNAH5):c.12586C>T (p.Gln4196Ter) rs886059965
NM_001369.2(DNAH5):c.12599dup (p.Phe4201fs) rs1554020233
NM_001369.2(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787
NM_001369.2(DNAH5):c.12631G>T (p.Glu4211Ter) rs762673561
NM_001369.2(DNAH5):c.12850dup (p.Tyr4284fs)
NM_001369.2(DNAH5):c.12910-1G>C rs1561097225
NM_001369.2(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.2(DNAH5):c.13126-2A>C rs863224503
NM_001369.2(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.2(DNAH5):c.13285C>T (p.Arg4429Ter)
NM_001369.2(DNAH5):c.13331G>A (p.Trp4444Ter) rs1060501467
NM_001369.2(DNAH5):c.13338+5G>A rs374718437
NM_001369.2(DNAH5):c.13338del (p.Ala4447fs) rs1554017211
NM_001369.2(DNAH5):c.13346G>A (p.Trp4449Ter) rs1561073938
NM_001369.2(DNAH5):c.13426C>T (p.Arg4476Ter) rs767716511
NM_001369.2(DNAH5):c.13432_13435del (p.His4478fs) rs760742856
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816
NM_001369.2(DNAH5):c.13633T>C (p.Trp4545Arg) rs1161303371
NM_001369.2(DNAH5):c.1427_1428del (p.Phe476fs) rs774493427
NM_001369.2(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131
NM_001369.2(DNAH5):c.1517dup (p.Asp506fs) rs1554101045
NM_001369.2(DNAH5):c.1611C>G (p.Tyr537Ter) rs367877988
NM_001369.2(DNAH5):c.1639del (p.Leu547fs) rs1580853061
NM_001369.2(DNAH5):c.1722del (p.Lys574fs) rs1164037667
NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541
NM_001369.2(DNAH5):c.1852C>T (p.Arg618Ter) rs778780449
NM_001369.2(DNAH5):c.1915C>T (p.Gln639Ter) rs1580809557
NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983
NM_001369.2(DNAH5):c.2250_2259+674del rs1561532139
NM_001369.2(DNAH5):c.2261dup (p.Met754fs) rs672601333
NM_001369.2(DNAH5):c.252T>G (p.Tyr84Ter) rs754982008
NM_001369.2(DNAH5):c.2533C>T (p.Gln845Ter) rs1060501458
NM_001369.2(DNAH5):c.2710G>T (p.Glu904Ter) rs1554090927
NM_001369.2(DNAH5):c.271G>T (p.Glu91Ter) rs750649191
NM_001369.2(DNAH5):c.2734G>T (p.Glu912Ter)
NM_001369.2(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.2(DNAH5):c.278-?_438+?del
NM_001369.2(DNAH5):c.2984-2A>C rs757801770
NM_001369.2(DNAH5):c.3291dup (p.Pro1098fs) rs762081081
NM_001369.2(DNAH5):c.3341_3342del (p.Lys1114fs) rs768881056
NM_001369.2(DNAH5):c.3378_3379insTG (p.Ile1127Ter) rs1561487416
NM_001369.2(DNAH5):c.3466del (p.Ile1156fs) rs775866092
NM_001369.2(DNAH5):c.3484C>T (p.Gln1162Ter)
NM_001369.2(DNAH5):c.349G>T (p.Glu117Ter) rs116128702
NM_001369.2(DNAH5):c.3598+2T>C rs981267400
NM_001369.2(DNAH5):c.3905del (p.Leu1302fs) rs754698253
NM_001369.2(DNAH5):c.3943G>T (p.Glu1315Ter) rs753397685
NM_001369.2(DNAH5):c.4157del (p.Thr1386fs) rs1554082872
NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107
NM_001369.2(DNAH5):c.4360C>T (p.Arg1454Ter)
NM_001369.2(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.2(DNAH5):c.4605dup (p.Ile1536fs) rs864622512
NM_001369.2(DNAH5):c.46C>T (p.Arg16Ter) rs772230378
NM_001369.2(DNAH5):c.4702del (p.Arg1568fs) rs1554081658
NM_001369.2(DNAH5):c.5037T>A (p.Cys1679Ter) rs1580578744
NM_001369.2(DNAH5):c.5059C>T (p.Gln1687Ter) rs1188507108
NM_001369.2(DNAH5):c.5114+1G>C rs878854457
NM_001369.2(DNAH5):c.5118C>G (p.Tyr1706Ter) rs1554074565
NM_001369.2(DNAH5):c.5162C>G (p.Ser1721Ter) rs1580543538
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_001369.2(DNAH5):c.5198C>A (p.Ser1733Ter) rs146087064
NM_001369.2(DNAH5):c.5266G>T (p.Glu1756Ter) rs116524991
NM_001369.2(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.2(DNAH5):c.5290T>C (p.Ser1764Pro) rs748763552
NM_001369.2(DNAH5):c.5482C>T (p.Gln1828Ter) rs1354919632
NM_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094
NM_001369.2(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.2(DNAH5):c.559G>T (p.Glu187Ter) rs759059925
NM_001369.2(DNAH5):c.5647C>T (p.Arg1883Ter) rs575017579
NM_001369.2(DNAH5):c.5710-2A>G rs548521732
NM_001369.2(DNAH5):c.5881dup (p.Arg1961fs) rs1554072027
NM_001369.2(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154
NM_001369.2(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.6273_6274delinsA (p.Glu2092fs) rs1060501457
NM_001369.2(DNAH5):c.6293del (p.Lys2098fs) rs1060501461
NM_001369.2(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228
NM_001369.2(DNAH5):c.6335_6336insT (p.Gln2112fs) rs779506456
NM_001369.2(DNAH5):c.6343del (p.Ile2114_Ile2115insTer) rs1474945018
NM_001369.2(DNAH5):c.6508dup (p.Arg2170fs) rs878854458
NM_001369.2(DNAH5):c.6605del (p.Phe2201_Leu2202insTer)
NM_001369.2(DNAH5):c.6682A>T (p.Arg2228Ter)
NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507
NM_001369.2(DNAH5):c.6932_6935del (p.Asp2311fs) rs1554062097
NM_001369.2(DNAH5):c.7034G>A (p.Trp2345Ter) rs755596256
NM_001369.2(DNAH5):c.7436_7450delinsC (p.His2479fs) rs1580363231
NM_001369.2(DNAH5):c.7540_7543dup (p.Thr2515fs)
NM_001369.2(DNAH5):c.7914dup (p.Arg2639fs) rs749082955
NM_001369.2(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470
NM_001369.2(DNAH5):c.8024_8025dup (p.Val2676Ter) rs1060501459
NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448
NM_001369.2(DNAH5):c.8167C>T (p.Gln2723Ter) rs1309660408
NM_001369.2(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274
NM_001369.2(DNAH5):c.8321_8322insC (p.Trp2774fs) rs1554050517
NM_001369.2(DNAH5):c.832del (p.Ala278fs) rs727502977
NM_001369.2(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270
NM_001369.2(DNAH5):c.8404C>T (p.Gln2802Ter) rs1193586811
NM_001369.2(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231
NM_001369.2(DNAH5):c.8465G>A (p.Trp2822Ter) rs1060501455
NM_001369.2(DNAH5):c.8498G>A (p.Arg2833His) rs753130398
NM_001369.2(DNAH5):c.8528T>C (p.Phe2843Ser) rs77377082
NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973
NM_001369.2(DNAH5):c.8864del (p.Val2955fs) rs1561241156
NM_001369.2(DNAH5):c.8869del (p.Val2957fs) rs1580203399
NM_001369.2(DNAH5):c.8998C>T (p.Arg3000Ter) rs769054713
NM_001369.2(DNAH5):c.8999del (p.Arg3000fs) rs1580180757
NM_001369.2(DNAH5):c.9039dup (p.Thr3014fs)
NM_001369.2(DNAH5):c.90_105dup (p.Arg36fs)
NM_001369.2(DNAH5):c.9124C>T (p.Arg3042Ter) rs760595654
NM_001369.2(DNAH5):c.9235C>T (p.Arg3079Ter) rs1175877764
NM_001369.2(DNAH5):c.9346C>T (p.Arg3116Ter)
NM_001369.2(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001369.2(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.2(DNAH5):c.9480T>A (p.Cys3160Ter) rs764948792
NM_001369.2(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504
NM_001369.2(DNAH5):c.9514dup (p.His3172fs)
NM_001369.2(DNAH5):c.9534C>A (p.Tyr3178Ter) rs1580150353
NM_001369.2(DNAH5):c.9609_9612delGAAT rs1580143916
NM_001369.2(DNAH5):c.9620del (p.Leu3207fs) rs769691641
NM_001369.2(DNAH5):c.9637del (p.Ala3213fs) rs1305797678
NM_001369.2(DNAH5):c.9694C>T (p.Gln3232Ter) rs369683202
NM_001369.2(DNAH5):c.9897+1G>C rs914675446
NM_001369.2(DNAH5):c.997C>T (p.Arg333Ter) rs771956532
NM_001369.2(DNAH5):c.9980del (p.Leu3327fs)
NM_001369.3(DNAH5):c.10280del (p.Lys3427fs)
NM_001369.3(DNAH5):c.10377del (p.Asp3459fs)
NM_001369.3(DNAH5):c.10604_10608dup (p.Glu3537fs)
NM_001369.3(DNAH5):c.10825C>T (p.Gln3609Ter)
NM_001369.3(DNAH5):c.10853_10856del (p.Glu3618fs) rs1353723750
NM_001369.3(DNAH5):c.11127_11128del (p.Arg3710fs)
NM_001369.3(DNAH5):c.11725C>T rs1060501464
NM_001369.3(DNAH5):c.12238G>T (p.Glu4080Ter)
NM_001369.3(DNAH5):c.12762_12763del (p.Arg4254fs) rs1579881985
NM_001369.3(DNAH5):c.1326C>G (p.Tyr442Ter)
NM_001369.3(DNAH5):c.13309del (p.Asp4437fs)
NM_001369.3(DNAH5):c.13457_13475del (p.Phe4485_Phe4486insTer)
NM_001369.3(DNAH5):c.1351_1355del (p.Gln451fs)
NM_001369.3(DNAH5):c.1380del (p.Lys460fs)
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs) rs1462578042
NM_001369.3(DNAH5):c.2660T>A (p.Leu887Ter)
NM_001369.3(DNAH5):c.2752G>T (p.Glu918Ter)
NM_001369.3(DNAH5):c.2834del (p.Lys945fs)
NM_001369.3(DNAH5):c.3020del (p.Leu1007fs)
NM_001369.3(DNAH5):c.340_358del (p.Phe114fs)
NM_001369.3(DNAH5):c.3529C>T (p.Gln1177Ter)
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs) rs1561477725
NM_001369.3(DNAH5):c.376del (p.Val126fs)
NM_001369.3(DNAH5):c.4084C>T (p.Gln1362Ter)
NM_001369.3(DNAH5):c.4201C>T (p.Gln1401Ter)
NM_001369.3(DNAH5):c.4596+1G>T
NM_001369.3(DNAH5):c.4619_4622del (p.Lys1540fs)
NM_001369.3(DNAH5):c.5244del (p.Asn1748fs)
NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)
NM_001369.3(DNAH5):c.5532dup (p.Ala1845fs)
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5769C>G (p.Tyr1923Ter)
NM_001369.3(DNAH5):c.5883-1G>A
NM_001369.3(DNAH5):c.5883-1G>C
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
NM_001369.3(DNAH5):c.6423_6424del (p.Cys2141_Glu2142delinsTer) rs1580457416
NM_001369.3(DNAH5):c.6804del (p.Thr2269fs)
NM_001369.3(DNAH5):c.7407+1G>A
NM_001369.3(DNAH5):c.7437_7450del (p.Leu2480fs)
NM_001369.3(DNAH5):c.7455_7456dup (p.Phe2486fs)
NM_001369.3(DNAH5):c.7500_7503del (p.Arg2501fs)
NM_001369.3(DNAH5):c.7526_7527dup (p.Ser2510fs)
NM_001369.3(DNAH5):c.7616G>A (p.Trp2539Ter)
NM_001369.3(DNAH5):c.768C>A (p.Cys256Ter)
NM_001369.3(DNAH5):c.7821T>G (p.Tyr2607Ter)
NM_001369.3(DNAH5):c.7898_7901del (p.Glu2633fs) rs1443540935
NM_001369.3(DNAH5):c.791_794del (p.Thr264fs) rs1391084505
NM_001369.3(DNAH5):c.8029C>T rs775946081
NM_001369.3(DNAH5):c.8250T>A (p.Cys2750Ter)
NM_001369.3(DNAH5):c.8606_8607del (p.Thr2869fs) rs1554049087
NM_001369.3(DNAH5):c.8821-1G>T
NM_001369.3(DNAH5):c.9280A>T (p.Lys3094Ter)
NM_001369.3(DNAH5):c.9365T>A (p.Leu3122Ter)
NM_001369.3(DNAH5):c.9399T>A (p.Tyr3133Ter)
NM_001369.3(DNAH5):c.9540del (p.Phe3181fs)
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
NM_001369.3(DNAH5):c.980G>A (p.Trp327Ter)
NM_001369.3(DNAH5):c.985G>T (p.Glu329Ter)
NM_001369.3(DNAH5):c.9877G>T (p.Glu3293Ter)

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