ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic by OMIM

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Total variants: 9
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HGVS dbSNP
DNAH5, 1-BP INS, 5563A
DNAH5, IVS74AS, G-C, -1
NM_001369.2(DNAH5):c.10555G>C (p.Gly3519Arg) rs79967166
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.1828C>T (p.Gln610Ter) rs121908853
NM_001369.2(DNAH5):c.2261dup (p.Met754fs) rs672601333
NM_001369.2(DNAH5):c.3139G>A (p.Gly1047Arg)
NM_001369.2(DNAH5):c.5130dup (p.Arg1711fs)
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861

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