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Gene: NDUFAF1 & Disease: MC1DN11, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
129688	NDUFAF1	c.26G>A	p.Arg9His (p.R9H)	NM_016013.4 M	SNV	LB	2 +	2
129689	NDUFAF1	c.92G>T	p.Arg31Leu (p.R31L)	NM_016013.4 M	SNV	LB	2 +	2
1362095	NDUFAF1	c.199G>A	p.Val67Ile (p.V67I)	NM_016013.4 M	SNV	VUS	1 +	2
1213729	NDUFAF1	c.457A>G	p.Lys153Glu (p.K153E)	NM_016013.4 M	SNV	VUS	1 +	1
1029422	NDUFAF1	c.512C>T	p.Ala171Val (p.A171V)	NM_016013.4 M	SNV	VUS	1 +	1
138454	NDUFAF1	c.526G>A	p.Glu176Lys (p.E176K)	NM_016013.4 M	SNV	LB	2 +	1
30622	NDUFAF1	c.619A>C	p.Thr207Pro (p.T207P)	NM_016013.4 M	SNV	P	1 +	1
2434084	NDUFAF1	c.624_625del	p.Tyr209fs (p.Y209fs)	NM_016013.4 M	Del	VUS	1 +	1
30624	NDUFAF1	c.631C>T	p.Arg211Cys (p.R211C)	NM_016013.4 M	SNV	P	1 +	1
30625	NDUFAF1	c.733G>A	p.Gly245Arg (p.G245R)	NM_016013.4 M	SNV	P	1 +	1
30623	NDUFAF1	c.758A>G	p.Lys253Arg (p.K253R)	NM_016013.4 M	SNV	P	1 +	1

11 Results, 20 per Page

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