ClinVar Miner

List of variants in gene DNAH1 reported as likely pathogenic

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) rs200416242 0.00005
NM_015512.5(DNAH1):c.11667_11668insC (p.Asp3890fs) rs765688686 0.00004
NM_015512.5(DNAH1):c.9850G>A (p.Glu3284Lys) rs376653399 0.00003
NM_015512.5(DNAH1):c.11592_11596dup (p.Asp3866fs) rs1201087762 0.00002
NM_015512.5(DNAH1):c.5611-1G>A rs759219188 0.00002
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter) rs368033879 0.00002
NM_015512.5(DNAH1):c.12339G>A (p.Trp4113Ter) rs767196276 0.00001
NM_015512.5(DNAH1):c.245del (p.Leu82fs) rs1701192142 0.00001
NM_015512.5(DNAH1):c.2526+1G>A rs748612396 0.00001
NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln) rs544674332 0.00001
NM_015512.5(DNAH1):c.3772C>T (p.Gln1258Ter) rs1415820936 0.00001
NM_015512.5(DNAH1):c.3980+1G>C rs1483000682 0.00001
NM_015512.5(DNAH1):c.5244+1G>A rs369746640 0.00001
NM_015512.5(DNAH1):c.7676del (p.Val2559fs) rs765417610 0.00001
NM_015512.5(DNAH1):c.10474+1G>A
NM_015512.5(DNAH1):c.10627-1_10627delinsTT
NM_015512.5(DNAH1):c.10823+2T>C
NM_015512.5(DNAH1):c.10969-2A>C
NM_015512.5(DNAH1):c.11431-2A>G rs772998828
NM_015512.5(DNAH1):c.11610G>C (p.Lys3870Asn) rs1704650728
NM_015512.5(DNAH1):c.11644G>A (p.Gly3882Arg)
NM_015512.5(DNAH1):c.1286+1G>A
NM_015512.5(DNAH1):c.1656+1G>C
NM_015512.5(DNAH1):c.2254C>T (p.Arg752Ter)
NM_015512.5(DNAH1):c.2728_2729+2del
NM_015512.5(DNAH1):c.2951del (p.Lys984fs) rs753307279
NM_015512.5(DNAH1):c.3480+1G>C
NM_015512.5(DNAH1):c.4252_4266+9del
NM_015512.5(DNAH1):c.4572-2A>G
NM_015512.5(DNAH1):c.5054C>G (p.Pro1685Arg)
NM_015512.5(DNAH1):c.5332-2A>G
NM_015512.5(DNAH1):c.5765+1G>A
NM_015512.5(DNAH1):c.5996_5997del (p.Thr1999fs) rs2153224677
NM_015512.5(DNAH1):c.6666+1G>A
NM_015512.5(DNAH1):c.7031_7032delinsA (p.Gly2344fs)
NM_015512.5(DNAH1):c.7037dup (p.Gly2348fs)
NM_015512.5(DNAH1):c.7198+1G>A
NM_015512.5(DNAH1):c.7805+1G>A
NM_015512.5(DNAH1):c.872-2A>G
NM_015512.5(DNAH1):c.9621+1G>T

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