ClinVar Miner

List of variants in gene DNAH5 reported as likely pathogenic by GeneDx

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter) rs1193586811 0.00004
NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter) rs1060501456 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter) rs769054713 0.00001
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_001369.3(DNAH5):c.376del (p.Val126fs) rs35129409
NM_001369.3(DNAH5):c.5118C>G (p.Tyr1706Ter) rs1554074565
NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter) rs1064795496
NM_001369.3(DNAH5):c.7407+1G>A rs749711805

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