ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP
NC_000005.9:g.(?_13792093)_(13944557_?)dup
NC_000005.9:g.(?_13824308)_(13830884_?)del
NC_000005.9:g.(?_13864486)_(13868121_?)del
NC_000005.9:g.(?_13913832)_(13914087_?)del
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.10452_10464del (p.His3484fs)
NM_001369.2(DNAH5):c.10504del (p.Arg3502fs) rs1554035330
NM_001369.2(DNAH5):c.10616G>A (p.Arg3539His) rs769458738
NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) rs397515540
NM_001369.2(DNAH5):c.10849_10852AAAG[1] (p.Glu3618fs) rs1353723750
NM_001369.2(DNAH5):c.10858C>T (p.Arg3620Ter) rs1283070426
NM_001369.2(DNAH5):c.1089+1G>A
NM_001369.2(DNAH5):c.10910del (p.Leu3637fs) rs769691189
NM_001369.2(DNAH5):c.11029-2A>T
NM_001369.2(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160
NM_001369.2(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.2(DNAH5):c.11804C>A (p.Ser3935Ter)
NM_001369.2(DNAH5):c.11853del (p.Lys3951fs)
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.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)
NM_001369.2(DNAH5):c.12760_12761AG[1] (p.Arg4254fs)
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.13331G>A (p.Trp4444Ter) rs1060501467
NM_001369.2(DNAH5):c.13338+5G>A
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)
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.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)
NM_001369.2(DNAH5):c.1722del (p.Lys574fs)
NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541
NM_001369.2(DNAH5):c.1852C>T (p.Arg618Ter)
NM_001369.2(DNAH5):c.1915C>T (p.Gln639Ter)
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.2279_2280AG[2] (p.Arg761fs) rs1462578042
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.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.2(DNAH5):c.278-?_438+?del
NM_001369.2(DNAH5):c.2984-2A>C
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.349G>T (p.Glu117Ter) rs116128702
NM_001369.2(DNAH5):c.3587_3588CT[1] (p.Leu1197fs) rs1561477725
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.4400dup (p.Leu1467fs)
NM_001369.2(DNAH5):c.4605dup (p.Ile1536fs) rs864622512
NM_001369.2(DNAH5):c.46C>T (p.Arg16Ter)
NM_001369.2(DNAH5):c.4702del (p.Arg1568fs) rs1554081658
NM_001369.2(DNAH5):c.5037T>A (p.Cys1679Ter)
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)
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_001369.2(DNAH5):c.5198C>A (p.Ser1733Ter)
NM_001369.2(DNAH5):c.5266G>T (p.Glu1756Ter)
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.5503C>T (p.Gln1835Ter) rs761622153
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.5663_5664CT[1] (p.Leu1889fs)
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.6419_6420TG[2] (p.Cys2141_Glu2142delinsTer)
NM_001369.2(DNAH5):c.6508dup (p.Arg2170fs) rs878854458
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)
NM_001369.2(DNAH5):c.787_790CAGA[1] (p.Thr264fs) rs1391084505
NM_001369.2(DNAH5):c.7896_7897AG[1] (p.Glu2633fs) rs1443540935
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.8029C>T (p.Arg2677Ter) rs775946081
NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448
NM_001369.2(DNAH5):c.8167C>T (p.Gln2723Ter)
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)
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.8604_8605CA[1] (p.Thr2869fs) rs1554049087
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)
NM_001369.2(DNAH5):c.8998C>T (p.Arg3000Ter) rs769054713
NM_001369.2(DNAH5):c.8999del (p.Arg3000fs)
NM_001369.2(DNAH5):c.9124C>T (p.Arg3042Ter)
NM_001369.2(DNAH5):c.9235C>T (p.Arg3079Ter) rs1175877764
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)
NM_001369.2(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504
NM_001369.2(DNAH5):c.9534C>A (p.Tyr3178Ter)
NM_001369.2(DNAH5):c.9609_9612delGAAT
NM_001369.2(DNAH5):c.9620del (p.Leu3207fs) rs769691641
NM_001369.2(DNAH5):c.9694C>T (p.Gln3232Ter)
NM_001369.2(DNAH5):c.9897+1G>C
NM_001369.2(DNAH5):c.997C>T (p.Arg333Ter)

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