ClinVar Miner

List of variants in gene DNAH1 studied for Ciliary dyskinesia, primary, 37

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.7805+13A>G rs770284 0.99996
NM_015512.5(DNAH1):c.11402G>A (p.Gly3801Asp) rs12163565 0.15635
NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys) rs200784189 0.00085
NM_015512.5(DNAH1):c.7742A>G (p.Asn2581Ser) rs200839854 0.00076
NM_015512.5(DNAH1):c.5740G>A (p.Glu1914Lys) rs199740667 0.00056
NM_015512.5(DNAH1):c.11153G>A (p.Arg3718His) rs371451336 0.00019
NM_015512.5(DNAH1):c.1263G>T (p.Thr421=) rs111568726 0.00016
NM_015512.5(DNAH1):c.2339G>A (p.Arg780Gln) rs763577633 0.00002
NM_015512.5(DNAH1):c.3815G>A (p.Arg1272Gln) rs748124296 0.00002
NM_015512.5(DNAH1):c.6374C>T (p.Thr2125Ile) rs950353955 0.00002
NM_015512.5(DNAH1):c.10071A>G (p.Leu3357=) rs554676148 0.00001
NM_015512.5(DNAH1):c.11063A>G (p.Tyr3688Cys) rs369995851 0.00001
NM_015512.5(DNAH1):c.245del (p.Leu82fs) rs1701192142 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.5244+1G>A rs369746640 0.00001
NM_015512.5(DNAH1):c.5347C>T (p.Arg1783Trp) rs759947620 0.00001
NM_015512.5(DNAH1):c.9352C>T (p.Arg3118Ter) rs371940272 0.00001
NM_015512.5(DNAH1):c.9854A>G (p.Glu3285Gly) rs556006237 0.00001
NM_015512.5(DNAH1):c.10887del (p.Cys3630fs)
NM_015512.5(DNAH1):c.11338A>G (p.Lys3780Glu) rs1578207026
NM_015512.5(DNAH1):c.11495= (p.Arg3832=) rs1704644099
NM_015512.5(DNAH1):c.1274G>A (p.Arg425His) rs200951874
NM_015512.5(DNAH1):c.2254C>T (p.Arg752Ter)
NM_015512.5(DNAH1):c.2610G>A (p.Trp870Ter)
NM_015512.5(DNAH1):c.2992A>G (p.Asn998Asp) rs1042476924
NM_015512.5(DNAH1):c.3002G>A (p.Arg1001His) rs200640418
NM_015512.5(DNAH1):c.3260G>A (p.Arg1087His) rs145381093
NM_015512.5(DNAH1):c.6442G>A (p.Gly2148Arg) rs1314950247

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