ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic for Inborn genetic diseases

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Total variants: 7
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HGVS dbSNP
NM_001369.2(DNAH5):c.349G>T (p.Glu117Ter) rs116128702
NM_001369.2(DNAH5):c.3598+2T>C rs981267400
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470
NM_001369.2(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274
NM_001369.2(DNAH5):c.8869del (p.Val2957fs) rs1580203399
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg)

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