ClinVar Miner

List of variants in gene DNAH11 reported as pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 326
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) rs201943194 0.00008
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) rs368260932 0.00008
NM_001277115.2(DNAH11):c.9560_9563dup (p.Ala3189fs) rs747442861 0.00007
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001277115.2(DNAH11):c.3426-1G>A rs774855011 0.00005
NM_001277115.2(DNAH11):c.10036C>T (p.Arg3346Ter) rs773851007 0.00004
NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg) rs1275074212 0.00004
NM_001277115.2(DNAH11):c.3765+1G>A rs766759197 0.00004
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter) rs72657316 0.00004
NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter) rs121908855 0.00003
NM_001277115.2(DNAH11):c.4438C>T (p.Arg1480Ter) rs72657321 0.00003
NM_001277115.2(DNAH11):c.5368G>T (p.Glu1790Ter) rs1164659091 0.00003
NM_001277115.2(DNAH11):c.6527C>T (p.Ala2176Val) rs770279400 0.00003
NM_001277115.2(DNAH11):c.983-1G>T rs777285019 0.00003
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg) rs764509824 0.00002
NM_001277115.2(DNAH11):c.12697C>T (p.Gln4233Ter) rs72658823 0.00002
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964 0.00002
NM_001277115.2(DNAH11):c.10324C>T (p.Gln3442Ter) rs72657393 0.00001
NM_001277115.2(DNAH11):c.10691+2T>C rs886039341 0.00001
NM_001277115.2(DNAH11):c.10789C>T (p.Gln3597Ter) rs1060503063 0.00001
NM_001277115.2(DNAH11):c.11521C>T (p.Arg3841Ter) rs988794959 0.00001
NM_001277115.2(DNAH11):c.11533C>T (p.Arg3845Ter) rs1309805676 0.00001
NM_001277115.2(DNAH11):c.13171C>T (p.Gln4391Ter) rs761855200 0.00001
NM_001277115.2(DNAH11):c.13183C>T (p.Arg4395Ter) rs757784023 0.00001
NM_001277115.2(DNAH11):c.2406G>A (p.Trp802Ter) rs1310930757 0.00001
NM_001277115.2(DNAH11):c.2569C>T (p.Arg857Ter) rs72655998 0.00001
NM_001277115.2(DNAH11):c.2671A>G (p.Asn891Asp) rs1354416117 0.00001
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter) rs374107286 0.00001
NM_001277115.2(DNAH11):c.4621C>T (p.Arg1541Ter) rs757013900 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter) rs767308949 0.00001
NM_001277115.2(DNAH11):c.5218C>T (p.Gln1740Ter) rs958055112 0.00001
NM_001277115.2(DNAH11):c.5593C>T (p.Arg1865Ter) rs767101212 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001277115.2(DNAH11):c.5778+1G>A rs72657333 0.00001
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter) rs373844629 0.00001
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter) rs778698443 0.00001
NM_001277115.2(DNAH11):c.6983+1G>A rs771953930 0.00001
NM_001277115.2(DNAH11):c.7266+1G>A rs72657354 0.00001
NM_001277115.2(DNAH11):c.8076_8077del (p.Met2693fs) rs1785931346 0.00001
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter) rs797045085 0.00001
NC_000007.13:g.(?_21784036)_(21790002_?)del
NC_000007.14:g.(?_21655812)_(21656001_?)del
NC_000007.14:g.(?_21681526)_(21745083_?)dup
NC_000007.14:g.(?_21683764)_(21683964_?)del
NC_000007.14:g.(?_21698055)_(21765609_?)del
NC_000007.14:g.(?_21735620)_(21750384_?)del
NC_000007.14:g.(?_21892405)_(21895019_?)del
NC_000007.14:g.21894887del rs2128049034
NM_001277115.2(DNAH11):c.-159_346delinsGGCGCCCCG (p.Met1fs)
NM_001277115.2(DNAH11):c.10026+1G>A
NM_001277115.2(DNAH11):c.10048A>T (p.Arg3350Ter) rs1554282583
NM_001277115.2(DNAH11):c.10054dup (p.Thr3352fs)
NM_001277115.2(DNAH11):c.10073del (p.Ala3358fs)
NM_001277115.2(DNAH11):c.10153G>T (p.Glu3385Ter) rs1208384558
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs) rs886042735
NM_001277115.2(DNAH11):c.10259dup (p.Tyr3420Ter)
NM_001277115.2(DNAH11):c.10260C>A (p.Tyr3420Ter)
NM_001277115.2(DNAH11):c.10260C>G (p.Tyr3420Ter) rs1789346276
NM_001277115.2(DNAH11):c.10265del (p.Gly3422fs)
NM_001277115.2(DNAH11):c.1030dup (p.Arg344fs)
NM_001277115.2(DNAH11):c.10311G>A (p.Trp3437Ter)
NM_001277115.2(DNAH11):c.10333-1G>A
NM_001277115.2(DNAH11):c.10333-1G>C
NM_001277115.2(DNAH11):c.10476G>A (p.Trp3492Ter)
NM_001277115.2(DNAH11):c.10512dup (p.Trp3505fs)
NM_001277115.2(DNAH11):c.10531G>T (p.Gly3511Ter)
NM_001277115.2(DNAH11):c.10616T>G (p.Leu3539Ter)
NM_001277115.2(DNAH11):c.1066_1067del (p.Gln356fs)
NM_001277115.2(DNAH11):c.10680del (p.Gly3563fs)
NM_001277115.2(DNAH11):c.10691+1G>T
NM_001277115.2(DNAH11):c.10805_10806del (p.Leu3602fs)
NM_001277115.2(DNAH11):c.10841_10844dup (p.Gln3615fs)
NM_001277115.2(DNAH11):c.10883del (p.Leu3628fs) rs2128016880
NM_001277115.2(DNAH11):c.10del (p.Gln4fs)
NM_001277115.2(DNAH11):c.11051_11052dup (p.Glu3685Ter)
NM_001277115.2(DNAH11):c.11053G>T (p.Glu3685Ter)
NM_001277115.2(DNAH11):c.11104C>T (p.Arg3702Ter)
NM_001277115.2(DNAH11):c.11112T>A (p.Cys3704Ter)
NM_001277115.2(DNAH11):c.11176_11177del (p.Asn3726fs)
NM_001277115.2(DNAH11):c.11188C>T (p.Gln3730Ter) rs2128025477
NM_001277115.2(DNAH11):c.11203-1G>C rs1783074775
NM_001277115.2(DNAH11):c.11203-2A>G
NM_001277115.2(DNAH11):c.11288_11289dup (p.Ile3764fs) rs1562590250
NM_001277115.2(DNAH11):c.11373+1G>A rs1175443221
NM_001277115.2(DNAH11):c.11381T>A (p.Leu3794Ter) rs878854435
NM_001277115.2(DNAH11):c.11396_11399del (p.Ile3799fs) rs1245232070
NM_001277115.2(DNAH11):c.11425C>T (p.Arg3809Ter)
NM_001277115.2(DNAH11):c.11483G>T (p.Trp3828Leu) rs1783201954
NM_001277115.2(DNAH11):c.11496+1G>T
NM_001277115.2(DNAH11):c.11570G>A (p.Trp3857Ter)
NM_001277115.2(DNAH11):c.11749_11752del (p.Val3917fs)
NM_001277115.2(DNAH11):c.11761G>T (p.Glu3921Ter)
NM_001277115.2(DNAH11):c.11839+1G>A
NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter)
NM_001277115.2(DNAH11):c.11968-1G>C rs1783569129
NM_001277115.2(DNAH11):c.12088G>T (p.Glu4030Ter)
NM_001277115.2(DNAH11):c.12196-2A>G rs1554291973
NM_001277115.2(DNAH11):c.12211dup (p.Cys4071fs)
NM_001277115.2(DNAH11):c.12213C>A (p.Cys4071Ter)
NM_001277115.2(DNAH11):c.12232A>T (p.Lys4078Ter) rs1583806864
NM_001277115.2(DNAH11):c.12310C>T (p.Arg4104Ter) rs775230957
NM_001277115.2(DNAH11):c.12466del (p.Leu4156fs) rs1554292398
NM_001277115.2(DNAH11):c.1247C>A (p.Ser416Ter)
NM_001277115.2(DNAH11):c.12724G>T (p.Glu4242Ter) rs1408664815
NM_001277115.2(DNAH11):c.12745del (p.Glu4249fs)
NM_001277115.2(DNAH11):c.12824dup (p.Asn4275fs)
NM_001277115.2(DNAH11):c.12871_12872del (p.Arg4291fs)
NM_001277115.2(DNAH11):c.12934-1G>T rs1554293484
NM_001277115.2(DNAH11):c.12944del (p.Ala4315fs)
NM_001277115.2(DNAH11):c.12970C>T (p.Gln4324Ter)
NM_001277115.2(DNAH11):c.13008G>A (p.Trp4336Ter) rs1162823375
NM_001277115.2(DNAH11):c.13096C>T (p.Gln4366Ter) rs748084362
NM_001277115.2(DNAH11):c.130G>T (p.Glu44Ter)
NM_001277115.2(DNAH11):c.1311T>A (p.Tyr437Ter) rs559143773
NM_001277115.2(DNAH11):c.13165_13168dup (p.Met4390fs) rs766922403
NM_001277115.2(DNAH11):c.1320del (p.Lys440fs) rs1562668233
NM_001277115.2(DNAH11):c.1320dup (p.Leu441fs)
NM_001277115.2(DNAH11):c.13239_13240insT (p.Thr4414fs)
NM_001277115.2(DNAH11):c.13240dup (p.Thr4414fs) rs759332741
NM_001277115.2(DNAH11):c.13242_13245del (p.Glu4416fs) rs1278777268
NM_001277115.2(DNAH11):c.13266_13272dup (p.Gly4425fs) rs2128052407
NM_001277115.2(DNAH11):c.13277_13298dup (p.Met4433fs)
NM_001277115.2(DNAH11):c.13279_13286dup (p.Gly4430fs)
NM_001277115.2(DNAH11):c.13281C>A (p.Tyr4427Ter)
NM_001277115.2(DNAH11):c.13303+1G>T
NM_001277115.2(DNAH11):c.1358G>A (p.Trp453Ter) rs749372718
NM_001277115.2(DNAH11):c.1367del (p.Gln456fs)
NM_001277115.2(DNAH11):c.1475_1593+946del
NM_001277115.2(DNAH11):c.1482dup (p.Thr495fs)
NM_001277115.2(DNAH11):c.1486A>T (p.Lys496Ter) rs769637393
NM_001277115.2(DNAH11):c.1544_1545del (p.Leu514_Cys515insTer)
NM_001277115.2(DNAH11):c.1558C>T (p.Gln520Ter)
NM_001277115.2(DNAH11):c.1593+1G>A rs1554312483
NM_001277115.2(DNAH11):c.1633_1634del (p.Leu545fs)
NM_001277115.2(DNAH11):c.1710+1G>C rs1784326790
NM_001277115.2(DNAH11):c.1736_1764del (p.Leu579fs)
NM_001277115.2(DNAH11):c.1785dup (p.Val596fs)
NM_001277115.2(DNAH11):c.1804G>T (p.Glu602Ter)
NM_001277115.2(DNAH11):c.1846C>T (p.Gln616Ter)
NM_001277115.2(DNAH11):c.1857T>A (p.Cys619Ter)
NM_001277115.2(DNAH11):c.1857_1878dup (p.Asn627delinsTrpSerCysSerSerTer)
NM_001277115.2(DNAH11):c.1886del (p.Pro629fs)
NM_001277115.2(DNAH11):c.1915C>T (p.Gln639Ter)
NM_001277115.2(DNAH11):c.1930C>T (p.Arg644Ter)
NM_001277115.2(DNAH11):c.2000del (p.Ala666_Leu667insTer)
NM_001277115.2(DNAH11):c.2046dup (p.Glu683Ter)
NM_001277115.2(DNAH11):c.2069G>A (p.Trp690Ter)
NM_001277115.2(DNAH11):c.2199T>A (p.Tyr733Ter)
NM_001277115.2(DNAH11):c.2200_2240dup (p.Leu747delinsPhePheTer) rs1583508118
NM_001277115.2(DNAH11):c.2234C>G (p.Ser745Ter)
NM_001277115.2(DNAH11):c.2320A>T (p.Lys774Ter)
NM_001277115.2(DNAH11):c.2321_2324del (p.Lys774fs)
NM_001277115.2(DNAH11):c.2346C>G (p.Tyr782Ter)
NM_001277115.2(DNAH11):c.2491C>T (p.Gln831Ter)
NM_001277115.2(DNAH11):c.2559del (p.Glu854fs) rs1562684798
NM_001277115.2(DNAH11):c.25G>T (p.Glu9Ter)
NM_001277115.2(DNAH11):c.2606dup (p.Leu869fs)
NM_001277115.2(DNAH11):c.2665G>T (p.Glu889Ter)
NM_001277115.2(DNAH11):c.2668G>T (p.Glu890Ter)
NM_001277115.2(DNAH11):c.2674del (p.Arg892fs)
NM_001277115.2(DNAH11):c.2740del (p.Ile914fs)
NM_001277115.2(DNAH11):c.2760dup (p.Gln921fs)
NM_001277115.2(DNAH11):c.2839C>T (p.Gln947Ter)
NM_001277115.2(DNAH11):c.2923G>T (p.Glu975Ter) rs776980207
NM_001277115.2(DNAH11):c.3431_3434del (p.Asn1144fs)
NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter)
NM_001277115.2(DNAH11):c.3569_3570del (p.Leu1189_Phe1190insTer) rs779520176
NM_001277115.2(DNAH11):c.3595del (p.Leu1199fs) rs1479385947
NM_001277115.2(DNAH11):c.3744del (p.Lys1250fs)
NM_001277115.2(DNAH11):c.3772C>T (p.Gln1258Ter)
NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs) rs749926976
NM_001277115.2(DNAH11):c.3853-2202_4096-506del
NM_001277115.2(DNAH11):c.3854del (p.Ala1285fs)
NM_001277115.2(DNAH11):c.3898_3906delinsG (p.Gln1300fs)
NM_001277115.2(DNAH11):c.3901G>T (p.Glu1301Ter) rs72657308
NM_001277115.2(DNAH11):c.3910del (p.Arg1304fs)
NM_001277115.2(DNAH11):c.3939C>G (p.Tyr1313Ter)
NM_001277115.2(DNAH11):c.3952C>T (p.Gln1318Ter)
NM_001277115.2(DNAH11):c.4005T>A (p.Tyr1335Ter)
NM_001277115.2(DNAH11):c.4009C>T (p.Arg1337Ter)
NM_001277115.2(DNAH11):c.4044G>A (p.Trp1348Ter)
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.4231_4235del (p.His1411fs)
NM_001277115.2(DNAH11):c.4254+5G>C rs72657312
NM_001277115.2(DNAH11):c.4273G>T (p.Glu1425Ter)
NM_001277115.2(DNAH11):c.4290del (p.Asp1431fs)
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs) rs761764078
NM_001277115.2(DNAH11):c.4395dup (p.Gln1466fs)
NM_001277115.2(DNAH11):c.4396C>T (p.Gln1466Ter)
NM_001277115.2(DNAH11):c.4425C>A (p.Tyr1475Ter)
NM_001277115.2(DNAH11):c.4471C>T (p.Gln1491Ter)
NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter)
NM_001277115.2(DNAH11):c.4509del (p.Leu1503fs)
NM_001277115.2(DNAH11):c.4552C>T (p.Gln1518Ter)
NM_001277115.2(DNAH11):c.4567C>T (p.Gln1523Ter) rs1286036654
NM_001277115.2(DNAH11):c.4658C>G (p.Ser1553Ter)
NM_001277115.2(DNAH11):c.4726-1G>A
NM_001277115.2(DNAH11):c.4726-2A>G
NM_001277115.2(DNAH11):c.4752dup (p.Glu1585fs) rs2128459908
NM_001277115.2(DNAH11):c.4791T>A (p.Tyr1597Ter)
NM_001277115.2(DNAH11):c.4922C>G (p.Ser1641Ter)
NM_001277115.2(DNAH11):c.4933C>T (p.Gln1645Ter)
NM_001277115.2(DNAH11):c.4950_4951del (p.Cys1651fs) rs1583567611
NM_001277115.2(DNAH11):c.4969_4970del (p.Phe1657fs)
NM_001277115.2(DNAH11):c.5005C>T (p.Gln1669Ter)
NM_001277115.2(DNAH11):c.5131C>T (p.Gln1711Ter)
NM_001277115.2(DNAH11):c.5199G>A (p.Trp1733Ter) rs1782130455
NM_001277115.2(DNAH11):c.5228_5231del (p.Leu1743fs)
NM_001277115.2(DNAH11):c.5247G>A (p.Trp1749Ter) rs2128465955
NM_001277115.2(DNAH11):c.531del (p.His177fs)
NM_001277115.2(DNAH11):c.5349_5352del (p.Ile1784fs)
NM_001277115.2(DNAH11):c.546T>A (p.Cys182Ter) rs1554309352
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)
NM_001277115.2(DNAH11):c.5558del (p.Phe1853fs)
NM_001277115.2(DNAH11):c.5613_5616del (p.Asp1873fs)
NM_001277115.2(DNAH11):c.5622-1G>T rs2128473916
NM_001277115.2(DNAH11):c.5643dup (p.Ser1882fs)
NM_001277115.2(DNAH11):c.5699_5700del (p.Thr1900fs) rs1783410926
NM_001277115.2(DNAH11):c.5737_5740dup (p.Val1914fs)
NM_001277115.2(DNAH11):c.5815G>A (p.Gly1939Arg)
NM_001277115.2(DNAH11):c.5822G>A (p.Trp1941Ter)
NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter) rs372143147
NM_001277115.2(DNAH11):c.5845del (p.Arg1949fs) rs2128474023
NM_001277115.2(DNAH11):c.5885_5922del (p.Val1962fs) rs1554269295
NM_001277115.2(DNAH11):c.589A>T (p.Lys197Ter)
NM_001277115.2(DNAH11):c.591_592del (p.Lys198fs)
NM_001277115.2(DNAH11):c.5924+1G>A
NM_001277115.2(DNAH11):c.5924+1G>C rs886039340
NM_001277115.2(DNAH11):c.5924+2T>A rs2128474056
NM_001277115.2(DNAH11):c.5963del (p.Pro1987_Ser1988insTer)
NM_001277115.2(DNAH11):c.600T>A (p.Tyr200Ter)
NM_001277115.2(DNAH11):c.6265G>T (p.Glu2089Ter) rs1275718084
NM_001277115.2(DNAH11):c.6298_6299dup (p.Asn2101fs) rs2128479064
NM_001277115.2(DNAH11):c.6406C>T (p.Gln2136Ter)
NM_001277115.2(DNAH11):c.6452del (p.Glu2151fs) rs1784195520
NM_001277115.2(DNAH11):c.6506C>A (p.Ser2169Ter) rs373946181
NM_001277115.2(DNAH11):c.6530G>A (p.Gly2177Asp)
NM_001277115.2(DNAH11):c.6642del (p.Phe2214fs)
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter) rs773498002
NM_001277115.2(DNAH11):c.6664del (p.Arg2222fs)
NM_001277115.2(DNAH11):c.6693C>G (p.Tyr2231Ter)
NM_001277115.2(DNAH11):c.6733C>T (p.Gln2245Ter)
NM_001277115.2(DNAH11):c.6834+1G>T
NM_001277115.2(DNAH11):c.685G>T (p.Glu229Ter)
NM_001277115.2(DNAH11):c.6977G>A (p.Trp2326Ter)
NM_001277115.2(DNAH11):c.7027A>T (p.Lys2343Ter)
NM_001277115.2(DNAH11):c.7101_7102insTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACC (p.Ile2368delinsCysGlyGlyValGlyGlyGlyGlyArgAspSerIleGlyArgTyrThrTer)
NM_001277115.2(DNAH11):c.7140_7141del (p.Val2382fs) rs878854445
NM_001277115.2(DNAH11):c.7264C>T (p.Gln2422Ter)
NM_001277115.2(DNAH11):c.7266+1G>T
NM_001277115.2(DNAH11):c.7279C>T (p.Gln2427Ter) rs202236144
NM_001277115.2(DNAH11):c.7299G>A (p.Trp2433Ter)
NM_001277115.2(DNAH11):c.7374del (p.Lys2459fs)
NM_001277115.2(DNAH11):c.7438C>T (p.Gln2480Ter)
NM_001277115.2(DNAH11):c.7441-1G>C rs2128489042
NM_001277115.2(DNAH11):c.7493del (p.Leu2498fs)
NM_001277115.2(DNAH11):c.749G>A (p.Trp250Ter)
NM_001277115.2(DNAH11):c.7507G>T (p.Gly2503Ter)
NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer) rs797045086
NM_001277115.2(DNAH11):c.752C>G (p.Ser251Ter)
NM_001277115.2(DNAH11):c.7583_7584del (p.Leu2527_Ser2528insTer)
NM_001277115.2(DNAH11):c.7727A>G (p.Asp2576Gly)
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu) rs387907258
NM_001277115.2(DNAH11):c.7812G>A (p.Trp2604Ter)
NM_001277115.2(DNAH11):c.7826del (p.Lys2609fs)
NM_001277115.2(DNAH11):c.7833_7837dup (p.Lys2613fs)
NM_001277115.2(DNAH11):c.7854_7857dup (p.Tyr2620fs)
NM_001277115.2(DNAH11):c.785C>G (p.Ser262Ter) rs1298746949
NM_001277115.2(DNAH11):c.7914G>C (p.Gln2638His)
NM_001277115.2(DNAH11):c.7915-1G>A
NM_001277115.2(DNAH11):c.793_794insCAGCT (p.Arg265fs)
NM_001277115.2(DNAH11):c.7961del (p.Leu2654fs)
NM_001277115.2(DNAH11):c.7978C>T (p.Gln2660Ter)
NM_001277115.2(DNAH11):c.7978_7984dup (p.Phe2662fs)
NM_001277115.2(DNAH11):c.7981del (p.Ile2661fs) rs2128490901
NM_001277115.2(DNAH11):c.7999C>T (p.Gln2667Ter)
NM_001277115.2(DNAH11):c.8132_8135del (p.Arg2711fs) rs1562521048
NM_001277115.2(DNAH11):c.8141C>G (p.Ser2714Ter) rs1237605731
NM_001277115.2(DNAH11):c.8144del (p.Asn2715fs) rs1785934565
NM_001277115.2(DNAH11):c.8221G>T (p.Glu2741Ter)
NM_001277115.2(DNAH11):c.8379del (p.Lys2794fs)
NM_001277115.2(DNAH11):c.8407_8416del (p.Asp2803fs)
NM_001277115.2(DNAH11):c.8412G>A (p.Trp2804Ter)
NM_001277115.2(DNAH11):c.8444T>G (p.Leu2815Ter) rs1293819249
NM_001277115.2(DNAH11):c.8578G>A (p.Gly2860Ser)
NM_001277115.2(DNAH11):c.860dup (p.Asn287fs) rs781372148
NM_001277115.2(DNAH11):c.8610C>G (p.Tyr2870Ter) rs878854446
NM_001277115.2(DNAH11):c.8709del (p.Lys2904fs) rs2128492914
NM_001277115.2(DNAH11):c.8769_8785del (p.Val2924fs) rs2128492930
NM_001277115.2(DNAH11):c.883-1G>A
NM_001277115.2(DNAH11):c.8904G>A (p.Trp2968Ter)
NM_001277115.2(DNAH11):c.8926C>T (p.Arg2976Ter)
NM_001277115.2(DNAH11):c.8932C>T (p.Gln2978Ter)
NM_001277115.2(DNAH11):c.895_896dup (p.Val300fs)
NM_001277115.2(DNAH11):c.9042G>A (p.Trp3014Ter)
NM_001277115.2(DNAH11):c.9113_9116del (p.Lys3038fs)
NM_001277115.2(DNAH11):c.9119_9120del (p.Ser3040fs)
NM_001277115.2(DNAH11):c.9181C>T (p.Gln3061Ter)
NM_001277115.2(DNAH11):c.9228del (p.Glu3076fs)
NM_001277115.2(DNAH11):c.9243del (p.Phe3081fs)
NM_001277115.2(DNAH11):c.9265C>T (p.Gln3089Ter)
NM_001277115.2(DNAH11):c.927_931del (p.Ser312fs)
NM_001277115.2(DNAH11):c.9288dup (p.Glu3097fs) rs771781357
NM_001277115.2(DNAH11):c.9337-12_9398dup
NM_001277115.2(DNAH11):c.9366del (p.Gln3123fs)
NM_001277115.2(DNAH11):c.9430C>T (p.Gln3144Ter)
NM_001277115.2(DNAH11):c.9436G>T (p.Glu3146Ter)
NM_001277115.2(DNAH11):c.9436del (p.Glu3146fs)
NM_001277115.2(DNAH11):c.9454A>T (p.Lys3152Ter) rs2127982555
NM_001277115.2(DNAH11):c.9478C>T (p.Arg3160Ter) rs1787819788
NM_001277115.2(DNAH11):c.9511C>T (p.Gln3171Ter)
NM_001277115.2(DNAH11):c.9523G>T (p.Glu3175Ter) rs1788086604
NM_001277115.2(DNAH11):c.9560_9561insAGTT (p.Ala3189fs)
NM_001277115.2(DNAH11):c.9581_9582del (p.Leu3194fs)
NM_001277115.2(DNAH11):c.966dup (p.Leu323fs)
NM_001277115.2(DNAH11):c.9671del (p.Val3224fs)
NM_001277115.2(DNAH11):c.9685C>T (p.Arg3229Trp) rs886536075
NM_001277115.2(DNAH11):c.9734del (p.Met3245fs)
NM_001277115.2(DNAH11):c.9755dup (p.Leu3252fs)
NM_001277115.2(DNAH11):c.9808del (p.Val3270fs)
NM_001277115.2(DNAH11):c.9817del (p.Glu3273fs)
NM_001277115.2(DNAH11):c.9896G>C (p.Trp3299Ser) rs758224118
NM_001277115.2(DNAH11):c.99_100del (p.Glu34fs)

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