ClinVar Miner

List of variants in gene DNAH5 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 527
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.11761+5A>G rs780205801 0.00022
NM_001369.3(DNAH5):c.11570+5G>A rs771916783 0.00015
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys) rs144053917 0.00014
NM_001369.3(DNAH5):c.6444+4T>C rs377638408 0.00011
NM_001369.3(DNAH5):c.12413T>G (p.Phe4138Cys) rs757393675 0.00009
NM_001369.3(DNAH5):c.4286A>G (p.Tyr1429Cys) rs141052175 0.00009
NM_001369.3(DNAH5):c.56C>T (p.Thr19Met) rs757712771 0.00008
NM_001369.3(DNAH5):c.2577+5T>C rs201596289 0.00006
NM_001369.3(DNAH5):c.6590A>G (p.Asp2197Gly) rs766882502 0.00006
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn) rs572852817 0.00006
NM_001369.3(DNAH5):c.8956T>C (p.Tyr2986His) rs369931315 0.00006
NM_001369.3(DNAH5):c.9538T>G (p.Ser3180Ala) rs375817990 0.00005
NM_001369.3(DNAH5):c.1240A>G (p.Asn414Asp) rs143391709 0.00004
NM_001369.3(DNAH5):c.12490A>G (p.Thr4164Ala) rs753204839 0.00004
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly) rs749983185 0.00004
NM_001369.3(DNAH5):c.4481G>A (p.Arg1494Gln) rs372291214 0.00004
NM_001369.3(DNAH5):c.5198C>T (p.Ser1733Leu) rs146087064 0.00004
NM_001369.3(DNAH5):c.5878G>T (p.Asp1960Tyr) rs1298235452 0.00004
NM_001369.3(DNAH5):c.6007G>A (p.Val2003Ile) rs776402895 0.00004
NM_001369.3(DNAH5):c.9400G>A (p.Asp3134Asn) rs1038976235 0.00004
NM_001369.3(DNAH5):c.10282G>A (p.Ala3428Thr) rs760220268 0.00003
NM_001369.3(DNAH5):c.12374C>T (p.Ala4125Val) rs370757783 0.00003
NM_001369.3(DNAH5):c.13123G>A (p.Glu4375Lys) rs955768429 0.00003
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys) rs749862482 0.00003
NM_001369.3(DNAH5):c.13843C>T (p.Arg4615Cys) rs771613197 0.00003
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser) rs752638332 0.00003
NM_001369.3(DNAH5):c.4355+5G>A rs774366812 0.00003
NM_001369.3(DNAH5):c.4384G>T (p.Asp1462Tyr) rs1189846120 0.00003
NM_001369.3(DNAH5):c.7987A>G (p.Ile2663Val) rs113576049 0.00003
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val) rs770090882 0.00003
NM_001369.3(DNAH5):c.8647+5A>C rs748450478 0.00003
NM_001369.3(DNAH5):c.9128A>T (p.Asp3043Val) rs759475605 0.00003
NM_001369.3(DNAH5):c.10312C>T (p.Leu3438Phe) rs1165709485 0.00002
NM_001369.3(DNAH5):c.10982A>G (p.Asp3661Gly) rs1420575942 0.00002
NM_001369.3(DNAH5):c.11465G>A (p.Arg3822Gln) rs779624238 0.00002
NM_001369.3(DNAH5):c.11685C>G (p.Phe3895Leu) rs149892711 0.00002
NM_001369.3(DNAH5):c.12157T>C (p.Ser4053Pro) rs140496584 0.00002
NM_001369.3(DNAH5):c.12361C>T (p.Leu4121Phe) rs144234655 0.00002
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr) rs766597612 0.00002
NM_001369.3(DNAH5):c.128T>C (p.Ile43Thr) rs767228474 0.00002
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg) rs886060013 0.00002
NM_001369.3(DNAH5):c.1658A>G (p.Lys553Arg) rs767525835 0.00002
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu) rs779509527 0.00002
NM_001369.3(DNAH5):c.4418T>C (p.Ile1473Thr) rs779510008 0.00002
NM_001369.3(DNAH5):c.4420G>C (p.Asp1474His) rs371703906 0.00002
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile) rs777579934 0.00002
NM_001369.3(DNAH5):c.5714A>G (p.His1905Arg) rs776745317 0.00002
NM_001369.3(DNAH5):c.6416A>G (p.Lys2139Arg) rs151336435 0.00002
NM_001369.3(DNAH5):c.698C>T (p.Thr233Ile) rs1416012949 0.00002
NM_001369.3(DNAH5):c.7371G>C (p.Gln2457His) rs1561324970 0.00002
NM_001369.3(DNAH5):c.7574G>A (p.Gly2525Glu) rs1465026258 0.00002
NM_001369.3(DNAH5):c.8647+6C>T rs200250503 0.00002
NM_001369.3(DNAH5):c.8897C>T (p.Thr2966Met) rs202021335 0.00002
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile) rs752086486 0.00002
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139 0.00001
NM_001369.3(DNAH5):c.10186G>A (p.Ala3396Thr) rs1751970470 0.00001
NM_001369.3(DNAH5):c.10262A>G (p.Lys3421Arg) rs1751957147 0.00001
NM_001369.3(DNAH5):c.10375G>T (p.Asp3459Tyr) rs751500950 0.00001
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile) rs376253368 0.00001
NM_001369.3(DNAH5):c.11377G>A (p.Glu3793Lys) rs751996726 0.00001
NM_001369.3(DNAH5):c.113A>G (p.Asn38Ser) rs1163468590 0.00001
NM_001369.3(DNAH5):c.11401A>G (p.Ile3801Val) rs750831635 0.00001
NM_001369.3(DNAH5):c.11414C>A (p.Thr3805Lys) rs1554027892 0.00001
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe) rs201068342 0.00001
NM_001369.3(DNAH5):c.11519A>G (p.Tyr3840Cys) rs761555252 0.00001
NM_001369.3(DNAH5):c.1165A>G (p.Thr389Ala) rs1305527957 0.00001
NM_001369.3(DNAH5):c.116A>G (p.Tyr39Cys) rs1469239990 0.00001
NM_001369.3(DNAH5):c.11755A>T (p.Ile3919Phe) rs1268213717 0.00001
NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn) rs749548708 0.00001
NM_001369.3(DNAH5):c.11883G>A (p.Gln3961=) rs1470925950 0.00001
NM_001369.3(DNAH5):c.12033+4A>G rs746256175 0.00001
NM_001369.3(DNAH5):c.12034G>C (p.Ala4012Pro) rs747828322 0.00001
NM_001369.3(DNAH5):c.12128C>T (p.Thr4043Met) rs529288295 0.00001
NM_001369.3(DNAH5):c.12368A>G (p.His4123Arg) rs1218242577 0.00001
NM_001369.3(DNAH5):c.12437C>T (p.Ser4146Phe) rs750170721 0.00001
NM_001369.3(DNAH5):c.12574C>A (p.His4192Asn) rs748199626 0.00001
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys) rs762673561 0.00001
NM_001369.3(DNAH5):c.12772G>A (p.Asp4258Asn) rs1354484933 0.00001
NM_001369.3(DNAH5):c.12958G>A (p.Ala4320Thr) rs377316131 0.00001
NM_001369.3(DNAH5):c.13054C>T (p.Arg4352Trp) rs530188302 0.00001
NM_001369.3(DNAH5):c.13227C>A (p.Ser4409Arg) rs139357559 0.00001
NM_001369.3(DNAH5):c.13540T>C (p.Cys4514Arg) rs916403814 0.00001
NM_001369.3(DNAH5):c.13699A>G (p.Ile4567Val) rs761546028 0.00001
NM_001369.3(DNAH5):c.13736C>T (p.Pro4579Leu) rs774527322 0.00001
NM_001369.3(DNAH5):c.1465A>G (p.Thr489Ala) rs779916415 0.00001
NM_001369.3(DNAH5):c.1502T>C (p.Ile501Thr) rs746819760 0.00001
NM_001369.3(DNAH5):c.2417C>T (p.Thr806Ile) rs766649400 0.00001
NM_001369.3(DNAH5):c.2488G>A (p.Ala830Thr) rs372432790 0.00001
NM_001369.3(DNAH5):c.275C>T (p.Thr92Ile) rs765566079 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.3031C>T (p.Arg1011Trp) rs928800148 0.00001
NM_001369.3(DNAH5):c.3043A>G (p.Thr1015Ala) rs756780275 0.00001
NM_001369.3(DNAH5):c.3154A>C (p.Ser1052Arg) rs367835771 0.00001
NM_001369.3(DNAH5):c.3236T>C (p.Val1079Ala) rs1771847921 0.00001
NM_001369.3(DNAH5):c.3314A>G (p.Asn1105Ser) rs371783309 0.00001
NM_001369.3(DNAH5):c.3560C>G (p.Pro1187Arg) rs1415125422 0.00001
NM_001369.3(DNAH5):c.3736C>T (p.Pro1246Ser) rs1769992971 0.00001
NM_001369.3(DNAH5):c.3792G>C (p.Arg1264Ser) rs769589158 0.00001
NM_001369.3(DNAH5):c.4295T>C (p.Ile1432Thr) rs753029826 0.00001
NM_001369.3(DNAH5):c.4524T>G (p.Asp1508Glu) rs1268555395 0.00001
NM_001369.3(DNAH5):c.4613C>T (p.Ala1538Val) rs201165908 0.00001
NM_001369.3(DNAH5):c.4747G>A (p.Ala1583Thr) rs374072143 0.00001
NM_001369.3(DNAH5):c.4787T>G (p.Leu1596Arg) rs1242688686 0.00001
NM_001369.3(DNAH5):c.5009A>G (p.His1670Arg) rs970902714 0.00001
NM_001369.3(DNAH5):c.5056G>A (p.Gly1686Arg) rs1385680717 0.00001
NM_001369.3(DNAH5):c.5171C>T (p.Ala1724Val) rs1354561021 0.00001
NM_001369.3(DNAH5):c.5476C>G (p.Pro1826Ala) rs928564123 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001369.3(DNAH5):c.5518C>T (p.Arg1840Trp) rs760640325 0.00001
NM_001369.3(DNAH5):c.5585C>T (p.Ala1862Val) rs1256145306 0.00001
NM_001369.3(DNAH5):c.5603A>G (p.Asn1868Ser) rs945907926 0.00001
NM_001369.3(DNAH5):c.560A>T (p.Glu187Val) rs1214362304 0.00001
NM_001369.3(DNAH5):c.5632C>G (p.Leu1878Val) rs1561401862 0.00001
NM_001369.3(DNAH5):c.565C>G (p.Leu189Val) rs1344395624 0.00001
NM_001369.3(DNAH5):c.5705A>G (p.Asp1902Gly) rs776748041 0.00001
NM_001369.3(DNAH5):c.5762G>A (p.Arg1921Lys) rs1331052558 0.00001
NM_001369.3(DNAH5):c.5830A>C (p.Asn1944His) rs906638785 0.00001
NM_001369.3(DNAH5):c.5849C>T (p.Thr1950Ile) rs1060501465 0.00001
NM_001369.3(DNAH5):c.5923G>C (p.Gly1975Arg) rs752901859 0.00001
NM_001369.3(DNAH5):c.6004G>A (p.Val2002Met) rs148279547 0.00001
NM_001369.3(DNAH5):c.6413A>G (p.Tyr2138Cys) rs769252635 0.00001
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val) rs778507942 0.00001
NM_001369.3(DNAH5):c.6575A>G (p.Lys2192Arg) rs1004296804 0.00001
NM_001369.3(DNAH5):c.661G>A (p.Val221Met) rs1085307485 0.00001
NM_001369.3(DNAH5):c.6764G>A (p.Arg2255Gln) rs1317585354 0.00001
NM_001369.3(DNAH5):c.6902T>C (p.Met2301Thr) rs778689094 0.00001
NM_001369.3(DNAH5):c.6932A>C (p.Asp2311Ala) rs754787543 0.00001
NM_001369.3(DNAH5):c.6991G>C (p.Glu2331Gln) rs1349321210 0.00001
NM_001369.3(DNAH5):c.7106T>C (p.Met2369Thr) rs144867885 0.00001
NM_001369.3(DNAH5):c.7109C>T (p.Ala2370Val) rs776056472 0.00001
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser) rs777962194 0.00001
NM_001369.3(DNAH5):c.7196G>A (p.Ser2399Asn) rs550329660 0.00001
NM_001369.3(DNAH5):c.7511T>C (p.Leu2504Pro) rs1344694038 0.00001
NM_001369.3(DNAH5):c.7537A>T (p.Thr2513Ser) rs376433526 0.00001
NM_001369.3(DNAH5):c.7831T>C (p.Cys2611Arg) rs377481206 0.00001
NM_001369.3(DNAH5):c.8005G>T (p.Asp2669Tyr) rs773280167 0.00001
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr) rs746501395 0.00001
NM_001369.3(DNAH5):c.8315G>A (p.Arg2772Gln) rs755210201 0.00001
NM_001369.3(DNAH5):c.8353C>T (p.Pro2785Ser) rs1167219863 0.00001
NM_001369.3(DNAH5):c.8564T>C (p.Phe2855Ser) rs1181279694 0.00001
NM_001369.3(DNAH5):c.860T>A (p.Leu287Gln) rs1177184350 0.00001
NM_001369.3(DNAH5):c.8698A>G (p.Ile2900Val) rs747438706 0.00001
NM_001369.3(DNAH5):c.8777T>C (p.Met2926Thr) rs372071561 0.00001
NM_001369.3(DNAH5):c.9001A>G (p.Thr3001Ala) rs780283468 0.00001
NM_001369.3(DNAH5):c.9229C>T (p.Arg3077Trp) rs1426289211 0.00001
NM_001369.3(DNAH5):c.9266C>T (p.Ser3089Leu) rs759831156 0.00001
NM_001369.3(DNAH5):c.9287G>A (p.Arg3096Gln) rs1388732051 0.00001
NM_001369.3(DNAH5):c.9301A>C (p.Lys3101Gln) rs371436275 0.00001
NM_001369.3(DNAH5):c.9317T>C (p.Ile3106Thr) rs778312386 0.00001
NM_001369.3(DNAH5):c.9544A>C (p.Ile3182Leu) rs951528702 0.00001
NM_001369.3(DNAH5):c.9649G>A (p.Val3217Ile) rs1753033779 0.00001
NM_001369.3(DNAH5):c.9760A>C (p.Lys3254Gln) rs765104542 0.00001
NM_001369.3(DNAH5):c.9823A>G (p.Lys3275Glu) rs1172460177 0.00001
NC_000005.10:g.(?_13791974)_(13944458_?)dup
NC_000005.10:g.(?_13791974)_(13944517_?)dup
NC_000005.9:g.(?_13692073)_(13692264_?)dup
NC_000005.9:g.(?_13692093)_(13754467_?)dup
NC_000005.9:g.(?_13840995)_(13841259_?)del
NM_001369.3(DNAH5):c.10076C>T (p.Ala3359Val) rs1752464443
NM_001369.3(DNAH5):c.1013C>G (p.Thr338Ser) rs1390111024
NM_001369.3(DNAH5):c.1022C>T (p.Ala341Val) rs1776738425
NM_001369.3(DNAH5):c.10286A>G (p.Asn3429Ser) rs1580095416
NM_001369.3(DNAH5):c.10381G>A (p.Val3461Met)
NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg) rs1057517890
NM_001369.3(DNAH5):c.10420-3T>C rs1172050367
NM_001369.3(DNAH5):c.10436C>A (p.Ala3479Glu)
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr) rs766829989
NM_001369.3(DNAH5):c.10559A>T (p.Asp3520Val)
NM_001369.3(DNAH5):c.10565T>G (p.Leu3522Arg)
NM_001369.3(DNAH5):c.10619A>C (p.Asp3540Ala) rs1580068395
NM_001369.3(DNAH5):c.10681C>G (p.Leu3561Val)
NM_001369.3(DNAH5):c.10690A>C (p.Ser3564Arg) rs2126701456
NM_001369.3(DNAH5):c.10703T>C (p.Ile3568Thr)
NM_001369.3(DNAH5):c.10706A>G (p.Asp3569Gly)
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del) rs773869600
NM_001369.3(DNAH5):c.10784C>A (p.Thr3595Lys)
NM_001369.3(DNAH5):c.10789G>C (p.Ala3597Pro) rs368959723
NM_001369.3(DNAH5):c.10839G>C (p.Trp3613Cys) rs1750508726
NM_001369.3(DNAH5):c.10859G>T (p.Arg3620Leu) rs547014532
NM_001369.3(DNAH5):c.10886A>C (p.Asn3629Thr) rs2126695378
NM_001369.3(DNAH5):c.10888C>T (p.His3630Tyr) rs1750346300
NM_001369.3(DNAH5):c.1089C>T (p.Pro363=)
NM_001369.3(DNAH5):c.10937C>A (p.Pro3646His)
NM_001369.3(DNAH5):c.10973C>T (p.Pro3658Leu)
NM_001369.3(DNAH5):c.11015G>A (p.Gly3672Glu)
NM_001369.3(DNAH5):c.11057T>A (p.Val3686Glu) rs1750176019
NM_001369.3(DNAH5):c.11057T>C (p.Val3686Ala) rs1750176019
NM_001369.3(DNAH5):c.11063A>G (p.Asp3688Gly) rs878854454
NM_001369.3(DNAH5):c.11072G>C (p.Arg3691Thr)
NM_001369.3(DNAH5):c.11078A>G (p.Tyr3693Cys)
NM_001369.3(DNAH5):c.11087C>T (p.Thr3696Ile)
NM_001369.3(DNAH5):c.11167C>G (p.Leu3723Val) rs2126689104
NM_001369.3(DNAH5):c.11189G>C (p.Arg3730Thr)
NM_001369.3(DNAH5):c.11462C>G (p.Thr3821Arg) rs374858945
NM_001369.3(DNAH5):c.11464C>T (p.Arg3822Trp)
NM_001369.3(DNAH5):c.11500C>T (p.Arg3834Cys) rs1579972564
NM_001369.3(DNAH5):c.11534G>A (p.Arg3845His)
NM_001369.3(DNAH5):c.11585C>G (p.Pro3862Arg) rs763954304
NM_001369.3(DNAH5):c.11632G>A (p.Glu3878Lys)
NM_001369.3(DNAH5):c.1171G>A (p.Glu391Lys)
NM_001369.3(DNAH5):c.11753T>C (p.Leu3918Pro) rs2126606502
NM_001369.3(DNAH5):c.11794C>A (p.Pro3932Thr) rs1746210228
NM_001369.3(DNAH5):c.11870A>G (p.Asp3957Gly)
NM_001369.3(DNAH5):c.11932C>T (p.Pro3978Ser)
NM_001369.3(DNAH5):c.11938G>A (p.Glu3980Lys) rs1221618846
NM_001369.3(DNAH5):c.12004T>A (p.Ser4002Thr)
NM_001369.3(DNAH5):c.12038G>A (p.Arg4013His)
NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser) rs1060501463
NM_001369.3(DNAH5):c.1206T>G (p.Asn402Lys)
NM_001369.3(DNAH5):c.1216T>G (p.Ser406Ala) rs1776422779
NM_001369.3(DNAH5):c.12179T>C (p.Ile4060Thr)
NM_001369.3(DNAH5):c.12197T>C (p.Leu4066Ser)
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp) rs1201132518
NM_001369.3(DNAH5):c.12279+6G>C rs762179184
NM_001369.3(DNAH5):c.12326T>C (p.Met4109Thr) rs1744695650
NM_001369.3(DNAH5):c.1234A>G (p.Ile412Val) rs1580867247
NM_001369.3(DNAH5):c.12355A>G (p.Thr4119Ala)
NM_001369.3(DNAH5):c.12373G>C (p.Ala4125Pro) rs757737381
NM_001369.3(DNAH5):c.12379C>A (p.Arg4127Ser) rs148696723
NM_001369.3(DNAH5):c.12404A>G (p.His4135Arg)
NM_001369.3(DNAH5):c.12414T>A (p.Phe4138Leu)
NM_001369.3(DNAH5):c.1246G>A (p.Gly416Arg)
NM_001369.3(DNAH5):c.12500-14A>G rs2126510171
NM_001369.3(DNAH5):c.12521A>G (p.Asp4174Gly) rs1554020311
NM_001369.3(DNAH5):c.12557A>G (p.Tyr4186Cys) rs368413636
NM_001369.3(DNAH5):c.12572T>C (p.Leu4191Pro) rs1312032248
NM_001369.3(DNAH5):c.12587A>G (p.Gln4196Arg)
NM_001369.3(DNAH5):c.12601T>C (p.Phe4201Leu)
NM_001369.3(DNAH5):c.12646G>A (p.Asp4216Asn)
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
NM_001369.3(DNAH5):c.12785G>A (p.Arg4262Lys) rs1744308032
NM_001369.3(DNAH5):c.1282G>A (p.Val428Ile)
NM_001369.3(DNAH5):c.12851A>G (p.Tyr4284Cys)
NM_001369.3(DNAH5):c.12906C>G (p.Ile4302Met)
NM_001369.3(DNAH5):c.12907C>G (p.Gln4303Glu)
NM_001369.3(DNAH5):c.12934G>A (p.Glu4312Lys)
NM_001369.3(DNAH5):c.13013G>C (p.Gly4338Ala) rs1744030966
NM_001369.3(DNAH5):c.13015A>C (p.Ile4339Leu)
NM_001369.3(DNAH5):c.13037G>T (p.Gly4346Val) rs371027404
NM_001369.3(DNAH5):c.13112A>G (p.Tyr4371Cys)
NM_001369.3(DNAH5):c.13180A>G (p.Arg4394Gly) rs1446970822
NM_001369.3(DNAH5):c.13199T>C (p.Met4400Thr)
NM_001369.3(DNAH5):c.1319A>G (p.Gln440Arg) rs2151982078
NM_001369.3(DNAH5):c.13231C>G (p.Leu4411Val) rs941923241
NM_001369.3(DNAH5):c.13232T>C (p.Leu4411Pro)
NM_001369.3(DNAH5):c.13266C>G (p.Ile4422Met) rs1561084758
NM_001369.3(DNAH5):c.1331T>C (p.Leu444Pro)
NM_001369.3(DNAH5):c.13331G>T (p.Trp4444Leu) rs1060501467
NM_001369.3(DNAH5):c.1339C>T (p.His447Tyr)
NM_001369.3(DNAH5):c.13405A>G (p.Thr4469Ala)
NM_001369.3(DNAH5):c.13481C>A (p.Ala4494Glu)
NM_001369.3(DNAH5):c.13543A>G (p.Asn4515Asp)
NM_001369.3(DNAH5):c.13593_13594delinsAT (p.Gly4532Cys)
NM_001369.3(DNAH5):c.13609G>T (p.Gly4537Cys) rs1741988812
NM_001369.3(DNAH5):c.13628C>T (p.Ala4543Val) rs2126404399
NM_001369.3(DNAH5):c.13714G>A (p.Glu4572Lys) rs768846678
NM_001369.3(DNAH5):c.13753C>T (p.Pro4585Ser)
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys) rs1320036244
NM_001369.3(DNAH5):c.13775G>C (p.Arg4592Pro) rs367709427
NM_001369.3(DNAH5):c.13825C>G (p.Pro4609Ala)
NM_001369.3(DNAH5):c.13849G>T (p.Val4617Phe)
NM_001369.3(DNAH5):c.13862G>A (p.Cys4621Tyr) rs1554012799
NM_001369.3(DNAH5):c.13862G>C (p.Cys4621Ser)
NM_001369.3(DNAH5):c.1438C>T (p.Leu480Phe) rs1580863552
NM_001369.3(DNAH5):c.1463C>G (p.Thr488Arg)
NM_001369.3(DNAH5):c.1466C>T (p.Thr489Ile) rs764562876
NM_001369.3(DNAH5):c.1522G>A (p.Ala508Thr)
NM_001369.3(DNAH5):c.1528A>G (p.Lys510Glu)
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=) rs541266118
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe) rs1775975227
NM_001369.3(DNAH5):c.1643A>C (p.His548Pro)
NM_001369.3(DNAH5):c.1645-8T>G rs2151964175
NM_001369.3(DNAH5):c.1683G>C (p.Lys561Asn)
NM_001369.3(DNAH5):c.1792G>A (p.Ala598Thr) rs863224706
NM_001369.3(DNAH5):c.1799T>C (p.Ile600Thr)
NM_001369.3(DNAH5):c.1828C>G (p.Gln610Glu)
NM_001369.3(DNAH5):c.1891C>T (p.Arg631Cys)
NM_001369.3(DNAH5):c.1896G>C (p.Gln632His)
NM_001369.3(DNAH5):c.1900T>C (p.Phe634Leu) rs1580809647
NM_001369.3(DNAH5):c.192+5G>A
NM_001369.3(DNAH5):c.193-3C>A
NM_001369.3(DNAH5):c.2004G>C (p.Lys668Asn) rs1226480889
NM_001369.3(DNAH5):c.2052+3G>C
NM_001369.3(DNAH5):c.2054T>C (p.Ile685Thr)
NM_001369.3(DNAH5):c.2071G>A (p.Gly691Ser) rs866977828
NM_001369.3(DNAH5):c.2072G>A (p.Gly691Asp)
NM_001369.3(DNAH5):c.2098G>C (p.Ala700Pro)
NM_001369.3(DNAH5):c.2104G>C (p.Gly702Arg)
NM_001369.3(DNAH5):c.2119T>C (p.Phe707Leu) rs956123437
NM_001369.3(DNAH5):c.220G>A (p.Val74Ile)
NM_001369.3(DNAH5):c.2298A>G (p.Ile766Met)
NM_001369.3(DNAH5):c.2311G>A (p.Glu771Lys) rs1216239202
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr) rs1773692803
NM_001369.3(DNAH5):c.2380T>C (p.Trp794Arg)
NM_001369.3(DNAH5):c.2382G>T (p.Trp794Cys) rs2151953467
NM_001369.3(DNAH5):c.2461A>G (p.Asn821Asp)
NM_001369.3(DNAH5):c.2479C>A (p.Arg827Ser) rs760986984
NM_001369.3(DNAH5):c.2479C>T (p.Arg827Cys)
NM_001369.3(DNAH5):c.2536G>A (p.Glu846Lys) rs1773148161
NM_001369.3(DNAH5):c.2577+5T>G rs201596289
NM_001369.3(DNAH5):c.2578G>A (p.Asp860Asn)
NM_001369.3(DNAH5):c.259G>A (p.Val87Met) rs1778067241
NM_001369.3(DNAH5):c.2648T>C (p.Leu883Pro) rs2151943048
NM_001369.3(DNAH5):c.2700A>C (p.Lys900Asn)
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile) rs1772373275
NM_001369.3(DNAH5):c.2723A>G (p.Asn908Ser)
NM_001369.3(DNAH5):c.2743+3A>T rs752170130
NM_001369.3(DNAH5):c.2753AAG[1] (p.Glu919del) rs762827509
NM_001369.3(DNAH5):c.275C>G (p.Thr92Arg) rs765566079
NM_001369.3(DNAH5):c.2804C>T (p.Ala935Val) rs1457781570
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys)
NM_001369.3(DNAH5):c.2899A>C (p.Met967Leu)
NM_001369.3(DNAH5):c.2939C>A (p.Ala980Asp) rs2151941469
NM_001369.3(DNAH5):c.2953A>G (p.Ile985Val) rs377668816
NM_001369.3(DNAH5):c.2995G>T (p.Ala999Ser)
NM_001369.3(DNAH5):c.3003C>A (p.Asn1001Lys) rs752944631
NM_001369.3(DNAH5):c.3025A>C (p.Ile1009Leu)
NM_001369.3(DNAH5):c.3032G>A (p.Arg1011Gln)
NM_001369.3(DNAH5):c.3050C>T (p.Ala1017Val) rs2151938659
NM_001369.3(DNAH5):c.3127A>G (p.Ser1043Gly) rs1771881510
NM_001369.3(DNAH5):c.3181A>C (p.Ile1061Leu)
NM_001369.3(DNAH5):c.3181A>G (p.Ile1061Val)
NM_001369.3(DNAH5):c.3190A>G (p.Arg1064Gly)
NM_001369.3(DNAH5):c.3212G>A (p.Ser1071Asn) rs2151938135
NM_001369.3(DNAH5):c.3316TAT[1] (p.Tyr1107del)
NM_001369.3(DNAH5):c.3322A>G (p.Lys1108Glu)
NM_001369.3(DNAH5):c.3383A>G (p.Asn1128Ser)
NM_001369.3(DNAH5):c.3476T>G (p.Phe1159Cys) rs375100071
NM_001369.3(DNAH5):c.3491C>T (p.Pro1164Leu) rs878854456
NM_001369.3(DNAH5):c.3538G>A (p.Glu1180Lys) rs1561477933
NM_001369.3(DNAH5):c.3559C>G (p.Pro1187Ala)
NM_001369.3(DNAH5):c.3595A>C (p.Thr1199Pro) rs1770106766
NM_001369.3(DNAH5):c.3649A>G (p.Ile1217Val)
NM_001369.3(DNAH5):c.3669A>T (p.Lys1223Asn)
NM_001369.3(DNAH5):c.3671A>G (p.Lys1224Arg) rs1561476005
NM_001369.3(DNAH5):c.3677G>A (p.Arg1226Gln) rs781418120
NM_001369.3(DNAH5):c.3725A>G (p.Lys1242Arg) rs1769995434
NM_001369.3(DNAH5):c.3727C>G (p.Leu1243Val) rs2151918770
NM_001369.3(DNAH5):c.3767C>T (p.Ala1256Val)
NM_001369.3(DNAH5):c.3795G>C (p.Glu1265Asp)
NM_001369.3(DNAH5):c.3837A>T (p.Glu1279Asp)
NM_001369.3(DNAH5):c.3935G>A (p.Arg1312His)
NM_001369.3(DNAH5):c.3965C>T (p.Ser1322Leu)
NM_001369.3(DNAH5):c.401A>G (p.Asp134Gly)
NM_001369.3(DNAH5):c.4025G>T (p.Cys1342Phe)
NM_001369.3(DNAH5):c.4108A>G (p.Met1370Val)
NM_001369.3(DNAH5):c.4113T>G (p.Phe1371Leu) rs1561465310
NM_001369.3(DNAH5):c.4145A>G (p.Tyr1382Cys) rs183833827
NM_001369.3(DNAH5):c.4208T>C (p.Leu1403Pro)
NM_001369.3(DNAH5):c.4244T>C (p.Ile1415Thr)
NM_001369.3(DNAH5):c.4355+6A>C
NM_001369.3(DNAH5):c.4356-15G>A
NM_001369.3(DNAH5):c.4370C>T (p.Pro1457Leu) rs1308493849
NM_001369.3(DNAH5):c.4373_4374delinsAT (p.Arg1458His) rs1768954926
NM_001369.3(DNAH5):c.438+5G>C rs776343117
NM_001369.3(DNAH5):c.438+6G>A rs2151997008
NM_001369.3(DNAH5):c.438+6G>C
NM_001369.3(DNAH5):c.439-3C>T
NM_001369.3(DNAH5):c.441G>C (p.Glu147Asp) rs200732050
NM_001369.3(DNAH5):c.4431C>A (p.Ser1477Arg)
NM_001369.3(DNAH5):c.4469C>T (p.Ala1490Val) rs1768942005
NM_001369.3(DNAH5):c.4505T>A (p.Leu1502His)
NM_001369.3(DNAH5):c.4546T>G (p.Leu1516Val) rs1768927489
NM_001369.3(DNAH5):c.4559T>C (p.Met1520Thr) rs916516633
NM_001369.3(DNAH5):c.4589A>G (p.Glu1530Gly)
NM_001369.3(DNAH5):c.4669A>G (p.Asn1557Asp) rs767321919
NM_001369.3(DNAH5):c.4748C>A (p.Ala1583Asp)
NM_001369.3(DNAH5):c.4753A>G (p.Met1585Val) rs1580641242
NM_001369.3(DNAH5):c.4761C>G (p.Asp1587Glu)
NM_001369.3(DNAH5):c.5024T>C (p.Val1675Ala) rs2151883811
NM_001369.3(DNAH5):c.5104_5106dup (p.Ser1702_Leu1703insSer)
NM_001369.3(DNAH5):c.5111C>A (p.Thr1704Asn) rs1427029408
NM_001369.3(DNAH5):c.5130A>C (p.Lys1710Asn)
NM_001369.3(DNAH5):c.5195C>T (p.Ala1732Val)
NM_001369.3(DNAH5):c.5206C>A (p.His1736Asn)
NM_001369.3(DNAH5):c.5212A>G (p.Ile1738Val)
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.3(DNAH5):c.5245A>G (p.Ile1749Val) rs1423005409
NM_001369.3(DNAH5):c.5246T>G (p.Ile1749Ser)
NM_001369.3(DNAH5):c.5252C>A (p.Ser1751Tyr) rs2151870055
NM_001369.3(DNAH5):c.5262C>G (p.Phe1754Leu) rs1765751014
NM_001369.3(DNAH5):c.5271+5G>A rs749394641
NM_001369.3(DNAH5):c.5271G>T (p.Lys1757Asn) rs1293906490
NM_001369.3(DNAH5):c.5332C>G (p.Pro1778Ala) rs1765209467
NM_001369.3(DNAH5):c.5338A>T (p.Met1780Leu) rs369482173
NM_001369.3(DNAH5):c.5392T>C (p.Ser1798Pro) rs1060501468
NM_001369.3(DNAH5):c.5399T>C (p.Leu1800Ser) rs1580524265
NM_001369.3(DNAH5):c.5439A>T (p.Glu1813Asp) rs754274080
NM_001369.3(DNAH5):c.5509A>C (p.Ile1837Leu) rs2151860552
NM_001369.3(DNAH5):c.5515A>G (p.Thr1839Ala)
NM_001369.3(DNAH5):c.5519G>A (p.Arg1840Gln)
NM_001369.3(DNAH5):c.5553T>G (p.Phe1851Leu)
NM_001369.3(DNAH5):c.556C>A (p.Leu186Ile) rs1554104341
NM_001369.3(DNAH5):c.5606C>T (p.Thr1869Ile)
NM_001369.3(DNAH5):c.561G>C (p.Glu187Asp)
NM_001369.3(DNAH5):c.5660A>G (p.Glu1887Gly)
NM_001369.3(DNAH5):c.566T>C (p.Leu189Pro) rs1777384254
NM_001369.3(DNAH5):c.5710T>C (p.Cys1904Arg)
NM_001369.3(DNAH5):c.5729G>A (p.Ser1910Asn)
NM_001369.3(DNAH5):c.5745G>T (p.Glu1915Asp)
NM_001369.3(DNAH5):c.5785G>C (p.Asp1929His) rs1554072085
NM_001369.3(DNAH5):c.5790GAT[2] (p.Met1932del)
NM_001369.3(DNAH5):c.5816C>T (p.Ala1939Val)
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val) rs754033261
NM_001369.3(DNAH5):c.5846G>A (p.Cys1949Tyr)
NM_001369.3(DNAH5):c.5885G>A (p.Cys1962Tyr)
NM_001369.3(DNAH5):c.5918G>A (p.Ser1973Asn)
NM_001369.3(DNAH5):c.5989C>T (p.Leu1997Phe)
NM_001369.3(DNAH5):c.599T>G (p.Leu200Trp)
NM_001369.3(DNAH5):c.6001G>T (p.Val2001Phe)
NM_001369.3(DNAH5):c.6014A>G (p.Asn2005Ser) rs1375968864
NM_001369.3(DNAH5):c.6044T>C (p.Leu2015Pro)
NM_001369.3(DNAH5):c.6070C>A (p.Gln2024Lys) rs989184330
NM_001369.3(DNAH5):c.6086G>T (p.Gly2029Val) rs1763454468
NM_001369.3(DNAH5):c.6107G>T (p.Arg2036Leu) rs760502991
NM_001369.3(DNAH5):c.6173A>G (p.Glu2058Gly)
NM_001369.3(DNAH5):c.6249+4A>T rs1554067648
NM_001369.3(DNAH5):c.624C>G (p.Asn208Lys) rs139640247
NM_001369.3(DNAH5):c.6250-3del rs2151835529
NM_001369.3(DNAH5):c.6325C>T (p.Pro2109Ser)
NM_001369.3(DNAH5):c.6332G>A (p.Arg2111His)
NM_001369.3(DNAH5):c.6343A>G (p.Ile2115Val)
NM_001369.3(DNAH5):c.6349G>T (p.Val2117Leu) rs1763365674
NM_001369.3(DNAH5):c.6466C>T (p.Arg2156Cys)
NM_001369.3(DNAH5):c.6580A>G (p.Ile2194Val)
NM_001369.3(DNAH5):c.6581T>C (p.Ile2194Thr) rs755113058
NM_001369.3(DNAH5):c.6650C>A (p.Ala2217Glu) rs748338986
NM_001369.3(DNAH5):c.6658C>A (p.Pro2220Thr) rs2151821296
NM_001369.3(DNAH5):c.6661G>A (p.Glu2221Lys)
NM_001369.3(DNAH5):c.6681T>A (p.Ser2227Arg)
NM_001369.3(DNAH5):c.676T>C (p.Cys226Arg)
NM_001369.3(DNAH5):c.6796G>A (p.Ala2266Thr) rs1023849945
NM_001369.3(DNAH5):c.6839C>T (p.Thr2280Ile)
NM_001369.3(DNAH5):c.6884C>G (p.Ala2295Gly) rs368441809
NM_001369.3(DNAH5):c.6884C>T (p.Ala2295Val) rs368441809
NM_001369.3(DNAH5):c.6905T>G (p.Phe2302Cys)
NM_001369.3(DNAH5):c.6908G>T (p.Gly2303Val) rs1580399696
NM_001369.3(DNAH5):c.6925A>C (p.Thr2309Pro) rs1761613337
NM_001369.3(DNAH5):c.698C>G (p.Thr233Ser)
NM_001369.3(DNAH5):c.7000T>C (p.Trp2334Arg)
NM_001369.3(DNAH5):c.7012G>C (p.Asp2338His) rs2151800746
NM_001369.3(DNAH5):c.7027G>T (p.Ala2343Ser)
NM_001369.3(DNAH5):c.7204A>C (p.Ile2402Leu) rs1368779884
NM_001369.3(DNAH5):c.7230G>C (p.Glu2410Asp)
NM_001369.3(DNAH5):c.7231-6del
NM_001369.3(DNAH5):c.734A>G (p.Asn245Ser) rs2151992686
NM_001369.3(DNAH5):c.7381A>G (p.Met2461Val)
NM_001369.3(DNAH5):c.7385T>A (p.Leu2462His) rs1554059594
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser) rs112103817
NM_001369.3(DNAH5):c.7407+4A>C
NM_001369.3(DNAH5):c.7430A>G (p.Gln2477Arg)
NM_001369.3(DNAH5):c.7444C>T (p.Arg2482Trp) rs1355327016
NM_001369.3(DNAH5):c.7452C>G (p.Phe2484Leu) rs561666802
NM_001369.3(DNAH5):c.7481C>A (p.Ala2494Glu) rs1428862297
NM_001369.3(DNAH5):c.7514A>T (p.Glu2505Val)
NM_001369.3(DNAH5):c.7531C>G (p.Arg2511Gly) rs564040169
NM_001369.3(DNAH5):c.7534C>G (p.Pro2512Ala) rs1760398139
NM_001369.3(DNAH5):c.759A>G (p.Ile253Met)
NM_001369.3(DNAH5):c.7612A>G (p.Thr2538Ala) rs1340645369
NM_001369.3(DNAH5):c.7634G>A (p.Arg2545His)
NM_001369.3(DNAH5):c.7679G>A (p.Gly2560Asp) rs1554058022
NM_001369.3(DNAH5):c.770T>C (p.Met257Thr) rs771377608
NM_001369.3(DNAH5):c.7742A>G (p.Lys2581Arg) rs1279883936
NM_001369.3(DNAH5):c.774A>G (p.Lys258=) rs1580893288
NM_001369.3(DNAH5):c.7752G>A (p.Lys2584=)
NM_001369.3(DNAH5):c.7805G>A (p.Gly2602Glu)
NM_001369.3(DNAH5):c.7810A>T (p.Met2604Leu)
NM_001369.3(DNAH5):c.798+2dup rs1777130854
NM_001369.3(DNAH5):c.7994A>G (p.Asn2665Ser) rs774224537
NM_001369.3(DNAH5):c.8015C>T (p.Thr2672Met) rs1358728493
NM_001369.3(DNAH5):c.8043A>C (p.Glu2681Asp)
NM_001369.3(DNAH5):c.8077G>A (p.Glu2693Lys) rs1757368494
NM_001369.3(DNAH5):c.8080T>G (p.Phe2694Val)
NM_001369.3(DNAH5):c.8122C>T (p.His2708Tyr)
NM_001369.3(DNAH5):c.8126C>T (p.Pro2709Leu)
NM_001369.3(DNAH5):c.8170T>A (p.Phe2724Ile) rs753702337
NM_001369.3(DNAH5):c.8189C>T (p.Thr2730Met)
NM_001369.3(DNAH5):c.8217G>C (p.Lys2739Asn) rs375287005
NM_001369.3(DNAH5):c.8217_8218insCTTCTGTGG (p.Lys2739_Ile2740insLeuLeuTrp) rs748140396
NM_001369.3(DNAH5):c.8224+5A>G
NM_001369.3(DNAH5):c.8246A>G (p.Tyr2749Cys) rs1757110482
NM_001369.3(DNAH5):c.8261G>T (p.Gly2754Val)
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His) rs199643592
NM_001369.3(DNAH5):c.8410A>G (p.Met2804Val) rs199629940
NM_001369.3(DNAH5):c.8530G>A (p.Asp2844Asn) rs2126882668
NM_001369.3(DNAH5):c.854C>G (p.Ala285Gly)
NM_001369.3(DNAH5):c.8552T>C (p.Val2851Ala) rs1756491046
NM_001369.3(DNAH5):c.8618A>G (p.Asp2873Gly) rs1347729037
NM_001369.3(DNAH5):c.8631T>A (p.Asp2877Glu)
NM_001369.3(DNAH5):c.8633C>T (p.Ala2878Val) rs1756476635
NM_001369.3(DNAH5):c.8647+3A>G rs1580248475
NM_001369.3(DNAH5):c.8726G>T (p.Arg2909Leu) rs756069405
NM_001369.3(DNAH5):c.8752A>G (p.Asn2918Asp) rs1755979769
NM_001369.3(DNAH5):c.8805G>A (p.Met2935Ile)
NM_001369.3(DNAH5):c.8820+6G>A rs201287534
NM_001369.3(DNAH5):c.8962A>G (p.Thr2988Ala) rs1754251806
NM_001369.3(DNAH5):c.9010C>A (p.Gln3004Lys) rs1754241068
NM_001369.3(DNAH5):c.9056A>G (p.Lys3019Arg)
NM_001369.3(DNAH5):c.9071T>G (p.Leu3024Trp)
NM_001369.3(DNAH5):c.909A>C (p.Gln303His)
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn)
NM_001369.3(DNAH5):c.919C>T (p.Pro307Ser)
NM_001369.3(DNAH5):c.9214G>A (p.Asp3072Asn)
NM_001369.3(DNAH5):c.9250A>G (p.Ile3084Val)
NM_001369.3(DNAH5):c.9452C>G (p.Ser3151Cys) rs1243099431
NM_001369.3(DNAH5):c.9478T>C (p.Cys3160Arg)
NM_001369.3(DNAH5):c.9511A>C (p.Thr3171Pro)
NM_001369.3(DNAH5):c.9511A>G (p.Thr3171Ala) rs149681419
NM_001369.3(DNAH5):c.9531A>G (p.Ser3177=) rs764594038
NM_001369.3(DNAH5):c.9538_9539delinsCT (p.Ser3180Leu)
NM_001369.3(DNAH5):c.9580G>T (p.Val3194Leu) rs2126785528
NM_001369.3(DNAH5):c.9606-7A>G rs1753043312
NM_001369.3(DNAH5):c.9655G>A (p.Ala3219Thr) rs1554040804
NM_001369.3(DNAH5):c.9720G>T (p.Met3240Ile)
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val) rs780887847
NM_001369.3(DNAH5):c.975+3C>A
NM_001369.3(DNAH5):c.9751G>C (p.Ala3251Pro)
NM_001369.3(DNAH5):c.9764T>G (p.Val3255Gly) rs2126776737
NM_001369.3(DNAH5):c.9788A>G (p.Lys3263Arg)
NM_001369.3(DNAH5):c.9815G>A (p.Ser3272Asn)
NM_001369.3(DNAH5):c.9842A>G (p.Glu3281Gly)
NM_001369.3(DNAH5):c.9890C>T (p.Ala3297Val)
NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg) rs727503902
NM_001369.3(DNAH5):c.9932C>T (p.Thr3311Met)
NM_001369.3(DNAH5):c.9940C>T (p.Arg3314Cys) rs755923477
NM_001369.3(DNAH5):c.9967A>G (p.Met3323Val) rs1554039465
NM_001369.3(DNAH5):c.9976G>T (p.Val3326Leu)

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.