ClinVar Miner

List of variants in gene DNAH5 reported by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250 0.00085
NM_001369.3(DNAH5):c.382G>A (p.Val128Met) rs200553244 0.00026
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00025
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001369.3(DNAH5):c.7088A>G (p.Asn2363Ser) rs910750925 0.00001
NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser) rs1060501463
NM_001369.3(DNAH5):c.12907C>T (p.Gln4303Ter) rs371030180
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.2581C>T (p.Leu861Phe) rs753213789
NM_001369.3(DNAH5):c.4054-12C>G rs1769241274
NM_001369.3(DNAH5):c.7511T>G (p.Leu2504Arg) rs1344694038
NM_001369.3(DNAH5):c.8668G>C (p.Asp2890His) rs1756005971

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