ClinVar Miner

List of variants in gene DNAH1 reported as pathogenic for SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37

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Total variants: 8
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HGVS dbSNP
NM_015512.5(DNAH1):c.10464_10465AG[2] (p.Arg3490fs) rs759646845
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) rs200416242
NM_015512.5(DNAH1):c.1912_1913insGG (p.Asp638fs) rs557979163
NM_015512.5(DNAH1):c.1941_1944del (p.Asn648fs) rs1297408310
NM_015512.5(DNAH1):c.5104C>T (p.Arg1702Ter)
NM_015512.5(DNAH1):c.7074dup (p.Arg2359fs) rs762545991
NM_015512.5(DNAH1):c.7676del (p.Val2559fs) rs765417610
NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter)

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