ClinVar Miner

List of variants reported as likely pathogenic for Primary ciliary dyskinesia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 527
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HGVS dbSNP gnomAD frequency
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) rs72658814 0.00025
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001206927.2(DNAH8):c.9194+1G>A rs144711161 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_001256715.2(DNAAF3):c.86-64G>A rs543369426 0.00009
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_001206927.2(DNAH8):c.6131+1G>A rs145974361 0.00008
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974 0.00008
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00008
NM_001206927.2(DNAH8):c.12007+1G>T rs372080325 0.00007
NM_001256715.2(DNAAF3):c.789+1G>C rs770143722 0.00006
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter) rs752269093 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_080860.4(RSPH1):c.727+5G>A rs200382776 0.00005
NM_001206927.2(DNAH8):c.11563+1G>T rs776791493 0.00004
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006 0.00004
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys) rs377278570 0.00004
NM_015512.5(DNAH1):c.11667_11668insC (p.Asp3890fs) rs765688686 0.00004
NM_018719.5(CDCA7L):c.*1246G>A rs72658835 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_145038.5(DRC1):c.1599+1G>A rs146412095 0.00004
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs) rs762267064 0.00003
NM_001206927.2(DNAH8):c.10963-1G>A rs376903331 0.00003
NM_001206927.2(DNAH8):c.2664+2T>C rs753831132 0.00003
NM_001277115.2(DNAH11):c.983-1G>T rs777285019 0.00003
NM_001369.3(DNAH5):c.11528C>T (p.Ser3843Leu) rs78346432 0.00003
NM_001369.3(DNAH5):c.12380G>A (p.Arg4127His) rs762555871 0.00003
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs) rs754698253 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001369.3(DNAH5):c.6444+1G>A rs781236248 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser) rs772686744 0.00003
NM_017802.4(DNAAF5):c.1258T>C (p.Cys420Arg) rs147811057 0.00003
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) rs201173498 0.00003
NM_001206927.2(DNAH8):c.2139+1G>A rs376576474 0.00002
NM_001206927.2(DNAH8):c.5734-1G>T rs781634544 0.00002
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val) rs1162526607 0.00002
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964 0.00002
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val) rs374990723 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.439-2A>G rs565076112 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_021147.5(CCNO):c.553_554del (p.Ile185fs) rs1745611424 0.00002
NM_023036.6(DNAI2):c.1348-1G>A rs745755917 0.00002
NM_023036.6(DNAI2):c.610+1G>A rs758109864 0.00002
NM_181426.2(CCDC39):c.1999-2A>T rs1399517463 0.00002
NM_001206927.2(DNAH8):c.3333+1G>A rs756616538 0.00001
NM_001206927.2(DNAH8):c.763-1G>A rs1582865345 0.00001
NM_001256715.2(DNAAF3):c.228+5G>C rs372166228 0.00001
NM_001271049.2(CFAP221):c.2318+1G>A rs759274091 0.00001
NM_001277115.2(DNAH11):c.10286G>A (p.Arg3429His) rs756115857 0.00001
NM_001277115.2(DNAH11):c.10332+2T>C rs972753865 0.00001
NM_001277115.2(DNAH11):c.10691+5G>C rs1429978132 0.00001
NM_001277115.2(DNAH11):c.2T>G (p.Met1Arg) rs1355068287 0.00001
NM_001277115.2(DNAH11):c.4944+1G>A rs878854444 0.00001
NM_001277115.2(DNAH11):c.5500C>T (p.Arg1834Cys) rs180897552 0.00001
NM_001364171.2(ODAD1):c.988+5G>A rs1060500990 0.00001
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.11029-2A>T rs369312501 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.13338+1G>C rs1219958424 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001369.3(DNAH5):c.2052+1G>T rs1774569455 0.00001
NM_001369.3(DNAH5):c.2744-1G>T rs1772232595 0.00001
NM_001369.3(DNAH5):c.2983+1G>A rs1772196982 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.5036G>A (p.Cys1679Tyr) rs1221785647 0.00001
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp) rs368644722 0.00001
NM_001369.3(DNAH5):c.5883-1G>A rs1195745037 0.00001
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154 0.00001
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter) rs769260126 0.00001
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs) rs779506456 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 0.00001
NM_001369.3(DNAH5):c.7888-2A>G rs1230911299 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001369.3(DNAH5):c.8010+3A>G rs748171209 0.00001
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448 0.00001
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr) rs746501395 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys) rs766481283 0.00001
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs) rs1305797678 0.00001
NM_001372.4(DNAH9):c.8870_8871del (p.Pro2957fs) rs749364709 0.00001
NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter) rs369556067 0.00001
NM_012144.4(DNAI1):c.1312-2A>G rs1188227820 0.00001
NM_012144.4(DNAI1):c.1402-1G>A rs1587089935 0.00001
NM_012144.4(DNAI1):c.1490-2A>G rs775831317 0.00001
NM_012144.4(DNAI1):c.261+2T>G rs1266767011 0.00001
NM_015896.4(ZMYND10):c.83G>A (p.Gly28Asp) rs1703516836 0.00001
NM_017802.4(DNAAF5):c.1470+1G>A rs767713588 0.00001
NM_017802.4(DNAAF5):c.1615-2A>G rs371542660 0.00001
NM_017950.4(CCDC40):c.1093G>T (p.Glu365Ter) rs1434356376 0.00001
NM_017950.4(CCDC40):c.2832+4A>T rs756602466 0.00001
NM_023036.6(DNAI2):c.1347+1G>T rs1567875399 0.00001
NM_023036.6(DNAI2):c.725-2A>C rs1448501611 0.00001
NM_145038.5(DRC1):c.1029-1G>T rs745800344 0.00001
NM_178452.6(DNAAF1):c.694C>G (p.Leu232Val) rs761851970 0.00001
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter) rs375839864 0.00001
NM_181426.2(CCDC39):c.1363-11A>G rs1553804100 0.00001
NM_181426.2(CCDC39):c.1665+1G>A rs753580394 0.00001
NM_213607.3(CCDC103):c.144-1G>A rs747091524 0.00001
GRCh37/hg19 Xq22.3(chrX:105066840-106486528)
NC_000005.10:g.(?_13768960)_(13794058_?)del
NC_000005.10:g.(?_13876664)_(13914662_?)del
NC_000005.9:g.(?_13729538)_(13771099_?)dup
NC_000005.9:g.(?_13753332)_(13754457_?)del
NC_000005.9:g.(?_13769059)_(13794177_?)del
NC_000005.9:g.(?_13792093)_(13794177_?)del
NC_000005.9:g.(?_13841005)_(13841249_?)del
NC_000005.9:g.(?_13886063)_(13911612_?)dup
NC_000005.9:g.(?_13899162)_(13901374_?)del
NC_000005.9:g.(?_13917246)_(13919467_?)del
NC_000005.9:g.(?_13917269)_(13919732_?)del
NC_000005.9:g.(?_13922436)_13923774del
NC_000007.13:g.(?_21609667)_(21631215_?)dup
NC_000007.13:g.(?_21779281)_(21779934_?)del
NC_000007.14:g.(?_785511)_(785658_?)del
NC_000009.11:g.(?_34489311)_(34493336_?)del
NC_000009.11:g.(?_34489311)_(34520764_?)del
NC_000017.10:g.(?_72281159)_(72283257_?)dup
NC_000017.10:g.(?_72283110)_(72283243_?)dup
NC_000017.10:g.(?_72295847)_(72309109_?)dup
NC_000017.10:g.(?_72297175)_(72301591_?)dup
NC_000017.10:g.(?_78021971)_(78024070_?)del
NC_000017.11:g.(?_74309243)_(74310173_?)dup
NC_000019.10:g.(?_48302674)_(48312136_?)dup
NM_000328.3(RPGR):c.1906-2A>G
NM_001010892.3(RSPH4A):c.1082G>A (p.Gly361Asp)
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs) rs1775758975
NM_001010892.3(RSPH4A):c.1818dup (p.Trp607fs) rs748664881
NM_001010892.3(RSPH4A):c.1838C>G (p.Ser613Ter) rs1775776645
NM_001010892.3(RSPH4A):c.2010dup (p.Ser671fs) rs1400425886
NM_001010892.3(RSPH4A):c.921+2T>C
NM_001034853.2(RPGR):c.1059+1del rs2147238385
NM_001034853.2(RPGR):c.1414+1G>A
NM_001034853.2(RPGR):c.1414+1G>C
NM_001034853.2(RPGR):c.1573-8A>G rs62635011
NM_001034853.2(RPGR):c.1754-214_1801del
NM_001034853.2(RPGR):c.247+1G>A
NM_001034853.2(RPGR):c.311-1G>A
NM_001034853.2(RPGR):c.334G>A (p.Gly112Ser)
NM_001034853.2(RPGR):c.3395del (p.Asn1132fs)
NM_001034853.2(RPGR):c.442G>A (p.Gly148Arg) rs2067876063
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg) rs2067847091
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.619+2_619+5del
NM_001034853.2(RPGR):c.620-2A>G
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_001034853.2(RPGR):c.779-1G>A rs62638655
NM_001034853.2(RPGR):c.800G>T (p.Gly267Val) rs2147248019
NM_001034853.2(RPGR):c.814G>T (p.Gly272Cys)
NM_001034853.2(RPGR):c.824G>A (p.Gly275Asp)
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr) rs62640590
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter) rs1291689114
NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His) rs797045152
NM_001206927.2(DNAH8):c.10309-1G>A
NM_001206927.2(DNAH8):c.10663-2A>G
NM_001206927.2(DNAH8):c.12249-2A>T
NM_001206927.2(DNAH8):c.13214+1G>A
NM_001206927.2(DNAH8):c.1516-2A>C rs200115379
NM_001206927.2(DNAH8):c.2901+1G>A
NM_001206927.2(DNAH8):c.3150+1G>A
NM_001206927.2(DNAH8):c.4188+2T>A
NM_001206927.2(DNAH8):c.8259+1G>A
NM_001206927.2(DNAH8):c.9349-1G>T rs1554132747
NM_001256715.2(DNAAF3):c.-4-1G>A rs2147311724
NM_001256715.2(DNAAF3):c.1044_1048+13del
NM_001256715.2(DNAAF3):c.1051G>A (p.Ala351Thr) rs748600370
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) rs1349668884
NM_001256715.2(DNAAF3):c.174del (p.His59fs) rs1384651581
NM_001256715.2(DNAAF3):c.854T>C (p.Phe285Ser)
NM_001271049.2(CFAP221):c.2303_2307del (p.Leu768fs) rs2104806661
NM_001277115.2(DNAH11):c.10027-2A>G rs868294039
NM_001277115.2(DNAH11):c.10165+1G>A
NM_001277115.2(DNAH11):c.10166-1G>C
NM_001277115.2(DNAH11):c.10332+1G>A
NM_001277115.2(DNAH11):c.10569-2A>G
NM_001277115.2(DNAH11):c.10897-2A>T
NM_001277115.2(DNAH11):c.11165T>C (p.Leu3722Pro) rs1060503064
NM_001277115.2(DNAH11):c.11203-1G>C rs1783074775
NM_001277115.2(DNAH11):c.11690+1G>A
NM_001277115.2(DNAH11):c.1194+2T>C
NM_001277115.2(DNAH11):c.11967+5G>A rs878854436
NM_001277115.2(DNAH11):c.12195+1G>A
NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg) rs1275074212
NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del) rs771508476
NM_001277115.2(DNAH11):c.13494_13500del (p.Ser4498fs) rs1212535211
NM_001277115.2(DNAH11):c.13512_13525del (p.Trp4505fs) rs2128053554
NM_001277115.2(DNAH11):c.1426-2A>G rs1064794014
NM_001277115.2(DNAH11):c.1A>C (p.Met1Leu)
NM_001277115.2(DNAH11):c.2170-1G>C
NM_001277115.2(DNAH11):c.2274+1del
NM_001277115.2(DNAH11):c.2275-2A>G
NM_001277115.2(DNAH11):c.2667+1G>C
NM_001277115.2(DNAH11):c.3000+1G>T
NM_001277115.2(DNAH11):c.3255+1G>T
NM_001277115.2(DNAH11):c.3425+1G>A
NM_001277115.2(DNAH11):c.3648+2T>C
NM_001277115.2(DNAH11):c.3766-8A>G rs1785297774
NM_001277115.2(DNAH11):c.3853-2A>G
NM_001277115.2(DNAH11):c.4012-1G>A
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.4096-2A>G
NM_001277115.2(DNAH11):c.4254+1G>A rs2128453160
NM_001277115.2(DNAH11):c.4377+1G>A
NM_001277115.2(DNAH11):c.4378-1G>A
NM_001277115.2(DNAH11):c.4673_4725+36del
NM_001277115.2(DNAH11):c.4817+1_4817+16del
NM_001277115.2(DNAH11):c.4944+2T>C
NM_001277115.2(DNAH11):c.495+1G>T
NM_001277115.2(DNAH11):c.5094+1G>A rs746014324
NM_001277115.2(DNAH11):c.5094+2T>G
NM_001277115.2(DNAH11):c.5095-1G>A
NM_001277115.2(DNAH11):c.5328+3A>G rs1583570354
NM_001277115.2(DNAH11):c.5329-2A>G rs932177093
NM_001277115.2(DNAH11):c.5622-1G>A
NM_001277115.2(DNAH11):c.5639C>A (p.Thr1880Asn) rs1245853002
NM_001277115.2(DNAH11):c.5779-1G>C
NM_001277115.2(DNAH11):c.6042-1G>T
NM_001277115.2(DNAH11):c.6181-1G>A rs1360420006
NM_001277115.2(DNAH11):c.6274-1G>A
NM_001277115.2(DNAH11):c.6468+2T>G
NM_001277115.2(DNAH11):c.6541A>G (p.Ser2181Gly) rs1415270608
NM_001277115.2(DNAH11):c.6546+2T>C
NM_001277115.2(DNAH11):c.6763T>C (p.Trp2255Arg)
NM_001277115.2(DNAH11):c.6835-1G>A
NM_001277115.2(DNAH11):c.692+2T>C
NM_001277115.2(DNAH11):c.693-2A>G
NM_001277115.2(DNAH11):c.7440+2T>C
NM_001277115.2(DNAH11):c.7811+1G>C
NM_001277115.2(DNAH11):c.7812-2A>G
NM_001277115.2(DNAH11):c.7904_7914+645del rs1785786687
NM_001277115.2(DNAH11):c.7907_7914+646del rs1583647043
NM_001277115.2(DNAH11):c.7914+2T>C
NM_001277115.2(DNAH11):c.8525G>A (p.Arg2842Gln)
NM_001277115.2(DNAH11):c.8563G>A (p.Gly2855Arg) rs1060503056
NM_001277115.2(DNAH11):c.8673+1G>A rs1060503041
NM_001277115.2(DNAH11):c.8674-1G>A
NM_001277115.2(DNAH11):c.8798-1G>A
NM_001277115.2(DNAH11):c.8798-2A>G
NM_001277115.2(DNAH11):c.8940+1G>A
NM_001277115.2(DNAH11):c.9484-18_9486del rs1788083949
NM_001277115.2(DNAH11):c.9598-1G>C
NM_001277115.2(DNAH11):c.982+1G>C
NM_001277115.2(DNAH11):c.9924+1G>A rs1554281038
NM_001364171.2(ODAD1):c.1503-2A>G
NM_001364171.2(ODAD1):c.988+2T>C
NM_001369.2(DNAH5):c.(?_-1)_8448+?dup
NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met)
NM_001369.3(DNAH5):c.10420-1G>A
NM_001369.3(DNAH5):c.10420-2A>G
NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg) rs79967166
NM_001369.3(DNAH5):c.10556-1G>A
NM_001369.3(DNAH5):c.10616G>C (p.Arg3539Pro)
NM_001369.3(DNAH5):c.10872+1G>A rs2126700213
NM_001369.3(DNAH5):c.1090-2A>C
NM_001369.3(DNAH5):c.11028+1G>C rs2126694391
NM_001369.3(DNAH5):c.11028+2T>C rs773447251
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln) rs1554033862
NM_001369.3(DNAH5):c.11211+1G>A rs1554033855
NM_001369.3(DNAH5):c.11211+2T>C
NM_001369.3(DNAH5):c.11455+1G>T
NM_001369.3(DNAH5):c.11570+2T>C rs2126610509
NM_001369.3(DNAH5):c.11761+2T>A rs2126606448
NM_001369.3(DNAH5):c.11761G>C (p.Gly3921Arg) rs2126606457
NM_001369.3(DNAH5):c.11884-1G>C
NM_001369.3(DNAH5):c.1198-1G>A
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103
NM_001369.3(DNAH5):c.12033+1G>A rs2126563913
NM_001369.3(DNAH5):c.12279+1G>A
NM_001369.3(DNAH5):c.12280-1G>A
NM_001369.3(DNAH5):c.12499+1G>A rs1579894454
NM_001369.3(DNAH5):c.12499+2T>G rs1484826593
NM_001369.3(DNAH5):c.12500-2A>G
NM_001369.3(DNAH5):c.12705+1G>A
NM_001369.3(DNAH5):c.12705+1G>T
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val) rs1744309029
NM_001369.3(DNAH5):c.12909+2T>C rs2126503314
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.1321-2A>G rs2151981226
NM_001369.3(DNAH5):c.13338+1G>A
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.13491+1G>A
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys) rs1320036244
NM_001369.3(DNAH5):c.1645-2A>G
NM_001369.3(DNAH5):c.1731-2A>T rs2151963411
NM_001369.3(DNAH5):c.193-1G>A rs369193065
NM_001369.3(DNAH5):c.193-2A>G rs769267893
NM_001369.3(DNAH5):c.2052+2T>C
NM_001369.3(DNAH5):c.2052+3G>T
NM_001369.3(DNAH5):c.2259+1G>A
NM_001369.3(DNAH5):c.2260-1G>A rs1561524235
NM_001369.3(DNAH5):c.2260-2A>G rs1773706886
NM_001369.3(DNAH5):c.2431+1G>A
NM_001369.3(DNAH5):c.2431+1G>T
NM_001369.3(DNAH5):c.2432-1G>C
NM_001369.3(DNAH5):c.2577+1G>A
NM_001369.3(DNAH5):c.2577+1G>T
NM_001369.3(DNAH5):c.2577+2del
NM_001369.3(DNAH5):c.2578-1G>A rs1166599454
NM_001369.3(DNAH5):c.2744-2A>T
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_001369.3(DNAH5):c.3175-1G>A
NM_001369.3(DNAH5):c.3262+1G>A rs757275351
NM_001369.3(DNAH5):c.3262+2T>G rs2151938077
NM_001369.3(DNAH5):c.3263-2A>G
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.3599-2A>G
NM_001369.3(DNAH5):c.3834+1G>A
NM_001369.3(DNAH5):c.3835-2del rs2151914274
NM_001369.3(DNAH5):c.4053+1G>A rs1060501466
NM_001369.3(DNAH5):c.4053+1G>T rs1060501466
NM_001369.3(DNAH5):c.4054-1G>A rs2151911687
NM_001369.3(DNAH5):c.4054-2A>G
NM_001369.3(DNAH5):c.4094del (p.Ser1365fs) rs1769229991
NM_001369.3(DNAH5):c.4117-1G>A
NM_001369.3(DNAH5):c.4117-2A>G rs1467301649
NM_001369.3(DNAH5):c.4597-1G>T rs2151905981
NM_001369.3(DNAH5):c.4597-2A>T
NM_001369.3(DNAH5):c.4597-2del
NM_001369.3(DNAH5):c.4792_4796+10del
NM_001369.3(DNAH5):c.4796+1G>A rs989235687
NM_001369.3(DNAH5):c.4797-1G>C rs1561449604
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro) rs74799487
NM_001369.3(DNAH5):c.5271+1G>T
NM_001369.3(DNAH5):c.5272-1G>A
NM_001369.3(DNAH5):c.5485-1G>T
NM_001369.3(DNAH5):c.5485-2A>T rs2151860622
NM_001369.3(DNAH5):c.54_57+5del
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs) rs2151860332
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5710-6T>A
NM_001369.3(DNAH5):c.5757del (p.Gln1919fs) rs1764868213
NM_001369.3(DNAH5):c.57_57+1delinsAA rs1560984816
NM_001369.3(DNAH5):c.58-1G>A rs1778386695
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6250-2A>G rs2151835519
NM_001369.3(DNAH5):c.6445-2A>G rs1309120344
NM_001369.3(DNAH5):c.6580-1G>T
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter) rs1270916321
NM_001369.3(DNAH5):c.6841+1G>A
NM_001369.3(DNAH5):c.6841+1G>C rs2151814082
NM_001369.3(DNAH5):c.6908G>C (p.Gly2303Ala)
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs) rs1554062097
NM_001369.3(DNAH5):c.6988+2T>C rs2151806960
NM_001369.3(DNAH5):c.7407+1G>A rs749711805
NM_001369.3(DNAH5):c.7408-1G>A
NM_001369.3(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del) rs727502975
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del) rs1554058577
NM_001369.3(DNAH5):c.7610-1G>A
NM_001369.3(DNAH5):c.7610-2A>G
NM_001369.3(DNAH5):c.7888-1G>A rs767603357
NM_001369.3(DNAH5):c.798+1G>A
NM_001369.3(DNAH5):c.799-269_1072del
NM_001369.3(DNAH5):c.8010+1G>A
NM_001369.3(DNAH5):c.8010+2T>C
NM_001369.3(DNAH5):c.8030G>C (p.Arg2677Pro)
NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del) rs1757363484
NM_001369.3(DNAH5):c.8141del (p.Asn2714fs) rs2126910254
NM_001369.3(DNAH5):c.8221_8224+9del
NM_001369.3(DNAH5):c.8225-1G>A
NM_001369.3(DNAH5):c.8225-2A>G rs2126901340
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs) rs1757084798
NM_001369.3(DNAH5):c.8386G>C (p.Asp2796His) rs2126899976
NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)
NM_001369.3(DNAH5):c.8449G>T (p.Asp2817Tyr) rs745885469
NM_001369.3(DNAH5):c.8648-2A>T
NM_001369.3(DNAH5):c.8821-923_8868del rs1755013971
NM_001369.3(DNAH5):c.8951+1G>A
NM_001369.3(DNAH5):c.9105+2T>C rs1580179985
NM_001369.3(DNAH5):c.9106-1G>A
NM_001369.3(DNAH5):c.9373+1G>C rs1754098584
NM_001369.3(DNAH5):c.9373+1G>T
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.3(DNAH5):c.9606-1G>A
NM_001369.3(DNAH5):c.9606-2A>G rs755550738
NM_001369.3(DNAH5):c.9721-1G>C
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter) rs923842695
NM_001369.3(DNAH5):c.9986T>C (p.Leu3329Pro) rs878854459
NM_003114.5(SPAG1):c.1119del (p.Ala374fs) rs1244721341
NM_003114.5(SPAG1):c.301-2A>G
NM_003114.5(SPAG1):c.401C>G (p.Ser134Ter) rs934869420
NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter) rs2047909739
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter) rs2147086302
NM_003611.3(OFD1):c.2868del (p.Pro957fs) rs2147086315
NM_012144.4(DNAI1):c.1063+1G>A rs1268770869
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr) rs767667443
NM_012144.4(DNAI1):c.1163G>T (p.Cys388Phe) rs767667443
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser) rs746647838
NM_012144.4(DNAI1):c.1204G>T (p.Gly402Cys)
NM_012144.4(DNAI1):c.1205G>T (p.Gly402Val)
NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser) rs769177784
NM_012144.4(DNAI1):c.1311+1G>C rs2132077044
NM_012144.4(DNAI1):c.1463del (p.Pro488fs) rs2132081705
NM_012144.4(DNAI1):c.1489+2T>G rs1825084931
NM_012144.4(DNAI1):c.1570-1G>T rs1587091911
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012144.4(DNAI1):c.1613C>T (p.Ala538Val) rs2132083804
NM_012144.4(DNAI1):c.1718+1G>A rs2132084012
NM_012144.4(DNAI1):c.1718+2T>G
NM_012144.4(DNAI1):c.1719-2A>G
NM_012144.4(DNAI1):c.180+1G>A rs2132057443
NM_012144.4(DNAI1):c.180+1G>T rs2132057443
NM_012144.4(DNAI1):c.180+2T>G rs1587067513
NM_012144.4(DNAI1):c.181-2A>T
NM_012144.4(DNAI1):c.1818+1G>T rs904790792
NM_012144.4(DNAI1):c.1818+2T>A
NM_012144.4(DNAI1):c.1819-2A>G rs2132086408
NM_012144.4(DNAI1):c.1866_1873del (p.Gln623fs) rs1825188115
NM_012144.4(DNAI1):c.2000_2001insTT (p.Lys667fs)
NM_012144.4(DNAI1):c.2001+1G>A rs397515563
NM_012144.4(DNAI1):c.262-2A>G rs1824533495
NM_012144.4(DNAI1):c.48+1G>C rs2132034522
NM_012144.4(DNAI1):c.48+1G>T
NM_012144.4(DNAI1):c.49-1G>C rs748042738
NM_012144.4(DNAI1):c.501+1G>A rs1824556879
NM_012144.4(DNAI1):c.501+1G>T
NM_012144.4(DNAI1):c.681+1G>A rs532919927
NM_012144.4(DNAI1):c.682-1G>A rs2132065273
NM_012144.4(DNAI1):c.817-2A>G rs2132068900
NM_012144.4(DNAI1):c.901+1G>A
NM_012144.4(DNAI1):c.901+1G>T
NM_012144.4(DNAI1):c.902-2A>G rs2132071947
NM_012472.6(DNAAF11):c.354_355del (p.Phe119fs) rs1821475039
NM_015896.4(ZMYND10):c.700+1G>A rs1297857806
NM_015896.4(ZMYND10):c.87del (p.Glu30fs) rs1703516483
NM_017802.4(DNAAF5):c.1258-2A>G
NM_017802.4(DNAAF5):c.1471-1G>A
NM_017950.4(CCDC40):c.1159+3A>T rs1185054167
NM_017950.4(CCDC40):c.1160-2A>C
NM_017950.4(CCDC40):c.2235+1G>T rs1568709952
NM_017950.4(CCDC40):c.2450-1G>A rs774081599
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.2711+1G>A
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_017950.4(CCDC40):c.3181-2A>G rs762664261
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter) rs2143789412
NM_017950.4(CCDC40):c.677-1G>T
NM_017950.4(CCDC40):c.677-2A>G
NM_017950.4(CCDC40):c.855+1G>A rs1346603171
NM_017950.4(CCDC40):c.93+2T>C rs2037179047
NM_017950.4(CCDC40):c.940-1G>C rs2037540861
NM_018139.3(DNAAF2):c.1555del (p.Glu519fs) rs1555327917
NM_018139.3(DNAAF2):c.727G>T (p.Glu243Ter) rs727504815
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs) rs587777498
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_021147.5(CCNO):c.382-1G>T rs1580411207
NM_021147.5(CCNO):c.563A>G (p.Lys188Arg) rs1554019966
NM_021147.5(CCNO):c.961C>T (p.Gln321Ter) rs587777501
NM_023036.6(DNAI2):c.1028T>G (p.Ile343Ser)
NM_023036.6(DNAI2):c.1211+2_1211+5del rs2144077639
NM_023036.6(DNAI2):c.1212-2A>C
NM_023036.6(DNAI2):c.1288G>A (p.Gly430Arg)
NM_023036.6(DNAI2):c.1348-1G>T rs745755917
NM_023036.6(DNAI2):c.1495-2A>T
NM_023036.6(DNAI2):c.1495-2_1495-1delinsTT
NM_023036.6(DNAI2):c.1672_1673del (p.Ala558fs) rs1598348312
NM_023036.6(DNAI2):c.184-1G>A rs1598278059
NM_023036.6(DNAI2):c.345+2T>C
NM_023036.6(DNAI2):c.468-2A>G rs2143940594
NM_023036.6(DNAI2):c.610+1G>T
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) rs897911822
NM_023036.6(DNAI2):c.864+1G>T rs1177965342
NM_023036.6(DNAI2):c.865-1G>C rs776777011
NM_031421.5(ODAD4):c.704dup (p.His235fs)
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer) rs876657637
NM_033124.5(CCDC65):c.877_878del (p.Ile293fs) rs863223325
NM_080860.4(RSPH1):c.376G>A (p.Gly126Ser)
NM_080860.4(RSPH1):c.502-1G>A
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter) rs727503394
NM_130810.4(DNAAF4):c.523del (p.Ile175fs) rs751610886
NM_139285.4(GAS2L2):c.887_890del (p.Val296fs) rs587633197
NM_145038.5(DRC1):c.1600-2A>G
NM_145038.5(DRC1):c.357-2A>G
NM_145045.5(ODAD3):c.98C>A (p.Ser33Ter) rs1969627663
NM_152732.5(RSPH9):c.228-6T>A rs775136764
NM_152732.5(RSPH9):c.244del (p.Trp82fs) rs2127891310
NM_152732.5(RSPH9):c.393+1G>A rs1054247330
NM_152732.5(RSPH9):c.393+2del rs1771335561
NM_152732.5(RSPH9):c.523+1G>C rs762292335
NM_173494.2(DNAAF6):c.332+1G>A rs2147829163
NM_178452.6(DNAAF1):c.741+2T>G
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter) rs2087613070
NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter) rs1396269749
NM_181426.2(CCDC39):c.1034+1G>A
NM_181426.2(CCDC39):c.1034+2T>A rs1210953680
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1168-2A>C rs1468349011
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs) rs751239231
NM_181426.2(CCDC39):c.1666-9C>G rs1717971093
NM_181426.2(CCDC39):c.1874+2T>C
NM_181426.2(CCDC39):c.1875-1G>C
NM_181426.2(CCDC39):c.1999-1G>C
NM_181426.2(CCDC39):c.2266-1G>A
NM_181426.2(CCDC39):c.2407-2del rs1560079213
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly) rs1560092712
NM_181426.2(CCDC39):c.352_354del (p.Lys118del) rs1245822059
NM_181426.2(CCDC39):c.436del (p.Trp146fs) rs2108429507
NM_181426.2(CCDC39):c.516+1G>A
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_181426.2(CCDC39):c.930+1G>A
NM_213607.3(CCDC103):c.223_226dup (p.His76fs) rs1597843267
NM_213607.3(CCDC103):c.289dup (p.Leu97fs)
NM_213607.3(CCDC103):c.568_569dup (p.Ser190fs) rs746242380

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