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Gene: NDUFB9 & Disease: MC1DN24, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
65455	NDUFB9	c.191T>C	p.Leu64Pro (p.L64P)	NM_005005.3 M	SNV	P	1 +	1
	NDUFB9	c.23T>C	p.Leu8Pro (p.L8P)	NM_001278645.2	SNV	P	1 +	1
	NDUFB9	c.62T>C	p.Leu21Pro (p.L21P)	NM_001278646.2	SNV	P	1 +	1
	NDUFB9	c.158T>C	p.Leu53Pro (p.L53P)	NM_001311168.2	SNV	P	1 +	1
138472	NDUFB9	c.24C>T	p.Pro8= (p.P8=)	NM_005005.3 M	SNV	LB	1 +	0
1185599	NDUFB9	c.431C>T	p.Thr144Met (p.T144M)	NM_005005.3 M	SNV	P	1 +	0
1318387	NDUFB9	c.-51A>G	--	NM_005005.3 M	SNV	LB	1 +	0
138472	NDUFB9	c.-110C>T	--	NM_001278645.2	SNV	LB	1 +	0
	NDUFB9	c.-104C>T	--	NM_001278646.2	SNV	LB	1 +	0
	NDUFB9	c.24C>T	p.Pro8= (p.P8=)	NM_001311168.2	SNV	LB	1 +	0
1185599	NDUFB9	c.302C>T	p.Thr101Met (p.T101M)	NM_001278646.2	SNV	P	1 +	0
	NDUFB9	c.263C>T	p.Thr88Met (p.T88M)	NM_001278645.2	SNV	P	1 +	0
	NDUFB9	c.398C>T	p.Thr133Met (p.T133M)	NM_001311168.2	SNV	P	1 +	0
1318387	NDUFB9	c.-184A>G	--	NM_001278645.2	SNV	LB	1 +	0
	NDUFB9	c.-178A>G	--	NM_001278646.2	SNV	LB	1 +	0
	NDUFB9	c.-51A>G	--	NM_001311168.2	SNV	LB	1 +	0

16 Results, 20 per Page

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