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Gene: CHN1 & Disease: Diaphragm Disease, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
598971	CHN1	c.667G>A	p.Ala223Thr (p.A223T)	NM_001822.7 M	SNV	LP	10 +	0
	CHN1	c.589G>A	p.Ala197Thr (p.A197T)	NM_001025201.4	SNV	LP	10 +	0
	CHN1	c.292G>A	p.Ala98Thr (p.A98T)	NM_001206602.2	SNV	LP	10 +	0
	CHN1	c.667G>A	p.Ala223Thr (p.A223T)	NM_001371513.1	SNV	LP	10 +	0
	CHN1	c.718G>A	p.Ala240Thr (p.A240T)	NM_001371514.1	SNV	LP	10 +	0

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