ClinVar Miner

List of variants in gene DNAH5 reported as likely pathogenic by UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill

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Gene type:
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Total variants: 10
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NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507
NM_001369.3(DNAH5):c.4094del (p.Ser1365fs)
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5757del (p.Gln1919fs)
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)

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