ClinVar Miner

List of variants in gene DNAH5 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500
NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983
NM_001369.2(DNAH5):c.5647C>T (p.Arg1883Ter) rs575017579
NM_001369.2(DNAH5):c.6688-1G>T rs1057520697
NM_001369.2(DNAH5):c.9449del (p.Gly3150fs) rs727504802

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