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Gene: NDUFA6 & Disease: MC1DN33, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
549665	NDUFA6	c.309del	p.Met104fs (p.M104fs)	NM_002490.6 M	Del	P	2 +	2
1244198	NDUFA6	c.26C>T	p.Ala9Val (p.A9V)	NM_002490.6 M	SNV	B	1 +	2
549666	NDUFA6	c.355del	p.Leu119fs (p.L119fs)	NM_002490.6 M	Del	P	2 +	1
487475	NDUFA6	c.331_332del	p.Glu111fs (p.E111fs)	NM_002490.6 M	Del	P	2 +	1
487476	NDUFA6	c.3G>A	p.Met1Ile (p.M1I)	NM_002490.6 M	SNV	P	2 +	1
487477	NDUFA6	c.191G>C	p.Arg64Pro (p.R64P)	NM_002490.6 M	SNV	P	2 +	1
487478	NDUFA6	c.265G>T	p.Glu89Ter (p.E89X)	NM_002490.6 M	SNV	P	2 +	1
1098636	NDUFA6	c.387A>C	p.Ter129Cys (p.X129C)	NM_002490.6 M	SNV	VUS	1 +	0

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