ClinVar Miner

List of variants in gene DNAH8 reported as pathogenic by Invitae

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Total variants: 28
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HGVS dbSNP
NC_000006.11:g.(?_38754521)_(38759470_?)del
NC_000006.11:g.38941435_38941436insG
NM_001206927.2(DNAH8):c.10335G>A (p.Trp3445Ter) rs1437893220
NM_001206927.2(DNAH8):c.11087_11088insCTTTTTCC (p.Lys3697fs)
NM_001206927.2(DNAH8):c.11602C>T (p.Arg3868Ter) rs769929539
NM_001206927.2(DNAH8):c.11967del (p.Thr3991fs)
NM_001206927.2(DNAH8):c.12496C>T (p.Arg4166Ter)
NM_001206927.2(DNAH8):c.2084del (p.His695fs)
NM_001206927.2(DNAH8):c.2395+1dup
NM_001206927.2(DNAH8):c.2489_2490del (p.Lys830fs) rs1562782355
NM_001206927.2(DNAH8):c.253C>T (p.Arg85Ter)
NM_001206927.2(DNAH8):c.2699T>A (p.Leu900Ter)
NM_001206927.2(DNAH8):c.2919G>A (p.Trp973Ter)
NM_001206927.2(DNAH8):c.2949dup (p.Val984fs) rs770372463
NM_001206927.2(DNAH8):c.3483_3489del (p.Thr1162fs) rs766707325
NM_001206927.2(DNAH8):c.3511A>T (p.Lys1171Ter)
NM_001206927.2(DNAH8):c.3787G>T (p.Glu1263Ter)
NM_001206927.2(DNAH8):c.5635C>T (p.Gln1879Ter)
NM_001206927.2(DNAH8):c.619C>T (p.Arg207Ter) rs776176679
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.8632C>T (p.Arg2878Ter) rs149070832
NM_001206927.2(DNAH8):c.9079C>T (p.Arg3027Ter)
NM_001206927.2(DNAH8):c.9095del (p.Asn3032fs) rs1561836628
NM_001206927.2(DNAH8):c.9304G>T (p.Glu3102Ter) rs1223799853
NM_001206927.2(DNAH8):c.9748C>T (p.Arg3250Ter) rs747123680
NM_001206927.2(DNAH8):c.9898A>T (p.Lys3300Ter)

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