ClinVar Miner

List of variants in gene DNAH8 reported as pathogenic for Primary ciliary dyskinesia

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Gene type:
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Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_001206927.2(DNAH8):c.12496C>T (p.Arg4166Ter) rs150428096 0.00020
NM_001206927.2(DNAH8):c.5251C>T (p.Arg1751Ter) rs201568629 0.00007
NM_001206927.2(DNAH8):c.8632C>T (p.Arg2878Ter) rs149070832 0.00006
NM_001206927.2(DNAH8):c.11967del (p.Thr3991fs) rs756851431 0.00004
NM_001206927.2(DNAH8):c.2949dup (p.Val984fs) rs770372463 0.00004
NM_001206927.2(DNAH8):c.11602C>T (p.Arg3868Ter) rs769929539 0.00003
NM_001206927.2(DNAH8):c.3268C>T (p.Arg1090Ter) rs199969537 0.00003
NM_001206927.2(DNAH8):c.5380C>T (p.Arg1794Ter) rs781224411 0.00003
NM_001206927.2(DNAH8):c.5738_5741dup (p.Leu1915fs) rs1190884969 0.00003
NM_001206927.2(DNAH8):c.7362del (p.Ser2455fs) rs769126261 0.00003
NM_001206927.2(DNAH8):c.9070C>T (p.Arg3024Ter) rs375764737 0.00003
NM_001206927.2(DNAH8):c.2919G>A (p.Trp973Ter) rs767180208 0.00002
NM_001206927.2(DNAH8):c.4198C>T (p.Gln1400Ter) rs753062783 0.00002
NM_001206927.2(DNAH8):c.4582del (p.Glu1528fs) rs756919169 0.00002
NM_001206927.2(DNAH8):c.6083_6084del (p.Glu2028fs) rs777912337 0.00002
NM_001206927.2(DNAH8):c.9079C>T (p.Arg3027Ter) rs747550558 0.00002
NM_001206927.2(DNAH8):c.9748C>T (p.Arg3250Ter) rs747123680 0.00002
NM_001206927.2(DNAH8):c.10335G>A (p.Trp3445Ter) rs1437893220 0.00001
NM_001206927.2(DNAH8):c.11087_11088insCTTTTTCC (p.Lys3697fs) rs765386646 0.00001
NM_001206927.2(DNAH8):c.11877T>G (p.Tyr3959Ter) rs754334951 0.00001
NM_001206927.2(DNAH8):c.5005G>T (p.Glu1669Ter) rs1438128043 0.00001
NM_001206927.2(DNAH8):c.619C>T (p.Arg207Ter) rs776176679 0.00001
NM_001206927.2(DNAH8):c.7866G>A (p.Trp2622Ter) rs766256391 0.00001
NM_001206927.2(DNAH8):c.8278C>T (p.Arg2760Ter) rs776257226 0.00001
NM_001206927.2(DNAH8):c.8761G>T (p.Glu2921Ter) rs369304378 0.00001
NM_001206927.2(DNAH8):c.9304G>T (p.Glu3102Ter) rs1223799853 0.00001
NC_000006.11:g.(?_38690586)_(38697782_?)del
NC_000006.11:g.(?_38702230)_(38709683_?)del
NC_000006.11:g.(?_38754521)_(38759470_?)del
NC_000006.11:g.(?_38881605)_(38885936_?)del
NC_000006.11:g.(?_38939348)_(38942325_?)del
NC_000006.12:g.38973662dup rs1299196993
NM_001206927.2(DNAH8):c.10048dup (p.Ile3350fs)
NM_001206927.2(DNAH8):c.10279del (p.Cys3427fs) rs2533450264
NM_001206927.2(DNAH8):c.10302dup (p.Leu3435fs)
NM_001206927.2(DNAH8):c.10311del (p.Leu3437_Met3438insTer)
NM_001206927.2(DNAH8):c.10608del (p.Ala3537fs)
NM_001206927.2(DNAH8):c.10744dup (p.Ile3582fs)
NM_001206927.2(DNAH8):c.1124_1127del (p.Ile375fs) rs771580014
NM_001206927.2(DNAH8):c.11286_11293del (p.Asp3763fs) rs2533556336
NM_001206927.2(DNAH8):c.11586_11589del (p.Ile3864fs)
NM_001206927.2(DNAH8):c.11714del (p.Gly3905fs) rs758035061
NM_001206927.2(DNAH8):c.11765_11766dup (p.Gln3923fs)
NM_001206927.2(DNAH8):c.11915dup (p.Asn3972fs)
NM_001206927.2(DNAH8):c.12838C>T (p.Arg4280Ter)
NM_001206927.2(DNAH8):c.12876C>A (p.Tyr4292Ter)
NM_001206927.2(DNAH8):c.12939C>A (p.Cys4313Ter) rs751151452
NM_001206927.2(DNAH8):c.12963G>A (p.Trp4321Ter) rs2533918431
NM_001206927.2(DNAH8):c.13303G>T (p.Glu4435Ter)
NM_001206927.2(DNAH8):c.13394del (p.Met4465fs) rs2534078747
NM_001206927.2(DNAH8):c.1703_1704del (p.Ser567_Phe568insTer)
NM_001206927.2(DNAH8):c.1856dup (p.Asn619fs) rs752991804
NM_001206927.2(DNAH8):c.2007_2011del (p.Leu669fs)
NM_001206927.2(DNAH8):c.2084del (p.His695fs) rs2127637299
NM_001206927.2(DNAH8):c.2383C>T (p.Gln795Ter)
NM_001206927.2(DNAH8):c.2395+1dup rs1768809177
NM_001206927.2(DNAH8):c.2400dup (p.Gln801fs) rs765139051
NM_001206927.2(DNAH8):c.2489_2490del (p.Lys830fs) rs1562782355
NM_001206927.2(DNAH8):c.2685del (p.Gly896fs) rs1250753880
NM_001206927.2(DNAH8):c.2699T>A (p.Leu900Ter) rs1769605097
NM_001206927.2(DNAH8):c.3031_3034del (p.Ser1011fs) rs781128315
NM_001206927.2(DNAH8):c.3031_3034dup (p.Glu1012fs) rs781128315
NM_001206927.2(DNAH8):c.3093T>G (p.Tyr1031Ter) rs1488305206
NM_001206927.2(DNAH8):c.3139G>T (p.Glu1047Ter) rs2532519909
NM_001206927.2(DNAH8):c.3184C>T (p.Gln1062Ter) rs1771404948
NM_001206927.2(DNAH8):c.3246dup (p.Phe1083fs)
NM_001206927.2(DNAH8):c.3483_3489del (p.Thr1162fs) rs766707325
NM_001206927.2(DNAH8):c.3511A>T (p.Lys1171Ter) rs1772190647
NM_001206927.2(DNAH8):c.3572dup (p.Val1193fs)
NM_001206927.2(DNAH8):c.3787G>T (p.Glu1263Ter) rs1416631904
NM_001206927.2(DNAH8):c.3904C>T (p.Arg1302Ter)
NM_001206927.2(DNAH8):c.4906G>T (p.Glu1636Ter) rs1775234077
NM_001206927.2(DNAH8):c.5069del (p.Asn1690fs)
NM_001206927.2(DNAH8):c.549dup (p.Ala184fs) rs1032638497
NM_001206927.2(DNAH8):c.5635C>T (p.Gln1879Ter) rs1297488496
NM_001206927.2(DNAH8):c.5762G>A (p.Trp1921Ter) rs2150400998
NM_001206927.2(DNAH8):c.6125del (p.Thr2042fs) rs2532975061
NM_001206927.2(DNAH8):c.6679C>T (p.Gln2227Ter) rs777610268
NM_001206927.2(DNAH8):c.6777_6778del (p.Ser2259fs) rs754547680
NM_001206927.2(DNAH8):c.6860T>G (p.Leu2287Ter) rs2533069131
NM_001206927.2(DNAH8):c.6962_6968del (p.His2321fs) rs752692263
NM_001206927.2(DNAH8):c.7086_7089dup (p.Glu2364fs) rs777613343
NM_001206927.2(DNAH8):c.7210_7211del (p.Trp2404fs)
NM_001206927.2(DNAH8):c.7396G>T (p.Glu2466Ter) rs1430752700
NM_001206927.2(DNAH8):c.7793del (p.Leu2598fs) rs749731714
NM_001206927.2(DNAH8):c.7978_7979dup (p.Asp2660fs) rs753496815
NM_001206927.2(DNAH8):c.8041_8042del (p.Val2681fs)
NM_001206927.2(DNAH8):c.8081_8085del (p.Val2694fs) rs2533205148
NM_001206927.2(DNAH8):c.8108C>A (p.Ser2703Ter) rs2533205504
NM_001206927.2(DNAH8):c.8375del (p.Pro2792fs) rs776079621
NM_001206927.2(DNAH8):c.8635_8636del (p.Asp2879fs) rs753926744
NM_001206927.2(DNAH8):c.8690C>G (p.Ser2897Ter)
NM_001206927.2(DNAH8):c.8826del (p.Ala2943fs)
NM_001206927.2(DNAH8):c.8952_8953insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTTGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCATCCTTT (p.Asp2985delinsPhePhePhePhePhePheXaaXaaXaaXaaProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2533317859
NM_001206927.2(DNAH8):c.9095del (p.Asn3032fs) rs1561836628
NM_001206927.2(DNAH8):c.9298_9305del (p.Lys3100fs) rs2150520528
NM_001206927.2(DNAH8):c.9529del (p.Arg3177fs) rs2533394646
NM_001206927.2(DNAH8):c.9812_9813insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACATTTATGC (p.Glu3272fs)
NM_001206927.2(DNAH8):c.9898A>T (p.Lys3300Ter) rs2150536009

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