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Mutation Direct

Effortless mutation search and display tool

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Gene: DNAH5 & Disease: Infertility, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
454795	DNAH5	c.6763C>T	p.Arg2255Ter (p.R2255X)	NM_001369.3 M	SNV	P	3 +	6
238981	DNAH5	c.5413C>T	p.Arg1805Cys (p.R1805C)	NM_001369.3 M	SNV	LB	3 +	0
220051	DNAH5	c.12251G>A	p.Arg4084Gln (p.R4084Q)	NM_001369.3 M	SNV	LB	3 +	0

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