ClinVar Miner

List of variants in gene DNAH5 reported as likely pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 6
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HGVS dbSNP
NM_001369.2(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del) rs727502975
NM_001369.2(DNAH5):c.832del (p.Ala278fs) rs727502977
NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973
NM_001369.2(DNAH5):c.9449del (p.Gly3150fs) rs727504802

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