ClinVar Miner

List of variants in gene DNAH8 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
Download table as spreadsheet
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 0.00008
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.11602C>T (p.Arg3868Ter) rs769929539 0.00003
NM_001206927.2(DNAH8):c.2919G>A (p.Trp973Ter) rs767180208 0.00002
NM_001206927.2(DNAH8):c.9079C>T (p.Arg3027Ter) rs747550558 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.2949dup (p.Val984fs) rs770372463 0.00001
NM_001206927.2(DNAH8):c.619C>T (p.Arg207Ter) rs776176679 0.00001
NM_001206927.2(DNAH8):c.9304G>T (p.Glu3102Ter) rs1223799853 0.00001
NM_001206927.2(DNAH8):c.9748C>T (p.Arg3250Ter) rs747123680 0.00001
NC_000006.11:g.(?_38690586)_(38697782_?)del
NC_000006.11:g.(?_38754521)_(38759470_?)del
NC_000006.11:g.(?_38939348)_(38942325_?)del
NC_000006.12:g.38973662dup rs1299196993
NM_001206927.2(DNAH8):c.10279del (p.Cys3427fs)
NM_001206927.2(DNAH8):c.1124_1127del (p.Ile375fs)
NM_001206927.2(DNAH8):c.11286_11293del (p.Asp3763fs)
NM_001206927.2(DNAH8):c.11877T>G (p.Tyr3959Ter)
NM_001206927.2(DNAH8):c.12939C>A (p.Cys4313Ter)
NM_001206927.2(DNAH8):c.12963G>A (p.Trp4321Ter)
NM_001206927.2(DNAH8):c.13394del (p.Met4465fs)
NM_001206927.2(DNAH8):c.1856dup (p.Asn619fs)
NM_001206927.2(DNAH8):c.2084del (p.His695fs) rs2127637299
NM_001206927.2(DNAH8):c.2395+1dup rs1768809177
NM_001206927.2(DNAH8):c.2400dup (p.Gln801fs)
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)
NM_001206927.2(DNAH8):c.3031_3034dup (p.Glu1012fs)
NM_001206927.2(DNAH8):c.3093T>G (p.Tyr1031Ter)
NM_001206927.2(DNAH8):c.3139G>T (p.Glu1047Ter)
NM_001206927.2(DNAH8):c.3184C>T (p.Gln1062Ter)
NM_001206927.2(DNAH8):c.3268C>T (p.Arg1090Ter)
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.3787G>T (p.Glu1263Ter) rs1416631904
NM_001206927.2(DNAH8):c.4198C>T (p.Gln1400Ter)
NM_001206927.2(DNAH8):c.4582del (p.Glu1528fs)
NM_001206927.2(DNAH8):c.4906G>T (p.Glu1636Ter)
NM_001206927.2(DNAH8):c.5005G>T (p.Glu1669Ter)
NM_001206927.2(DNAH8):c.5380C>T (p.Arg1794Ter)
NM_001206927.2(DNAH8):c.549dup (p.Ala184fs)
NM_001206927.2(DNAH8):c.5635C>T (p.Gln1879Ter) rs1297488496
NM_001206927.2(DNAH8):c.5738_5741dup (p.Leu1915fs)
NM_001206927.2(DNAH8):c.5762G>A (p.Trp1921Ter) rs2150400998
NM_001206927.2(DNAH8):c.6083_6084del (p.Glu2028fs)
NM_001206927.2(DNAH8):c.6125del (p.Thr2042fs)
NM_001206927.2(DNAH8):c.6679C>T (p.Gln2227Ter) rs777610268
NM_001206927.2(DNAH8):c.6777_6778del (p.Ser2259fs)
NM_001206927.2(DNAH8):c.6860T>G (p.Leu2287Ter)
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.7362del (p.Ser2455fs)
NM_001206927.2(DNAH8):c.7396G>T (p.Glu2466Ter)
NM_001206927.2(DNAH8):c.7793del (p.Leu2598fs) rs749731714
NM_001206927.2(DNAH8):c.7866G>A (p.Trp2622Ter) rs766256391
NM_001206927.2(DNAH8):c.7978_7979dup (p.Asp2660fs) rs753496815
NM_001206927.2(DNAH8):c.8081_8085del (p.Val2694fs)
NM_001206927.2(DNAH8):c.8108C>A (p.Ser2703Ter)
NM_001206927.2(DNAH8):c.8278C>T (p.Arg2760Ter)
NM_001206927.2(DNAH8):c.8375del (p.Pro2792fs)
NM_001206927.2(DNAH8):c.8635_8636del (p.Asp2879fs)
NM_001206927.2(DNAH8):c.8761G>T (p.Glu2921Ter)
NM_001206927.2(DNAH8):c.8952_8953insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTTGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCATCCTTT (p.Asp2985delinsPhePhePhePhePhePheXaaXaaXaaXaaProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_001206927.2(DNAH8):c.9070C>T (p.Arg3024Ter)
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)
NM_001206927.2(DNAH8):c.9812_9813insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACATTTATGC (p.Glu3272fs)
NM_001206927.2(DNAH8):c.9898A>T (p.Lys3300Ter) rs2150536009

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.