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Gene: CHN1 & Disease: DURS1, 35 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count
332465	CHN1	c.628-14dup	--	NM_001822.7 M	Dup	VUS	2 +
332466	CHN1	c.628-15_628-14del	--	NM_001822.7 M	MS	LB	2 +
598971	CHN1	c.667G>A	p.Ala223Thr (p.A223T)	NM_001822.7 M	SNV	LP	10 +
585049	CHN1	c.1322T>C	p.Ile441Thr (p.I441T)	NM_001822.7 M	SNV	VUS	1 +
332459	CHN1	c.*214dup	--	NM_001822.7 M	Dup	VUS	2 +
332453	CHN1	c.734_737del	--	NM_001822.7 M	Del	LB	2 +
332454	CHN1	c.687_691del	--	NM_001822.7 M	Del	VUS	2 +
332465	CHN1	c.550-14dup	--	NM_001025201.4	Dup	VUS	2 +
	CHN1	c.628-14dup	--	NM_001371513.1	Dup	VUS	2 +
	CHN1	c.679-14dup	--	NM_001371514.1	Dup	VUS	2 +
	CHN1	c.253-14dup	--	NM_001206602.2	Dup	VUS	2 +
332466	CHN1	c.550-15_550-14del	--	NM_001025201.4	MS	LB	2 +
	CHN1	c.628-15_628-14del	--	NM_001371513.1	MS	LB	2 +
	CHN1	c.679-15_679-14del	--	NM_001371514.1	MS	LB	2 +
	CHN1	c.253-15_253-14del	--	NM_001206602.2	MS	LB	2 +
598971	CHN1	c.589G>A	p.Ala197Thr (p.A197T)	NM_001025201.4	SNV	LP	10 +
	CHN1	c.292G>A	p.Ala98Thr (p.A98T)	NM_001206602.2	SNV	LP	10 +
	CHN1	c.667G>A	p.Ala223Thr (p.A223T)	NM_001371513.1	SNV	LP	10 +
	CHN1	c.718G>A	p.Ala240Thr (p.A240T)	NM_001371514.1	SNV	LP	10 +
585049	CHN1	c.1244T>C	p.Ile415Thr (p.I415T)	NM_001025201.4	SNV	VUS	1 +

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