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Gene: NDUFB11 & Disease: MC1DN30, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
372149	NDUFB11	c.361G>A	p.Glu121Lys (p.E121K)	NM_001135998.3 M	SNV	P	2 +	7
372149	NDUFB11	c.391G>A	p.Glu131Lys (p.E131K)	NM_019056.7	SNV	P	2 +	7
1027717	NDUFB11	c.260T>C	p.Met87Thr (p.M87T)	NM_001135998.3 M	SNV	VUS	1 +	1
689468	NDUFB11	c.427G>A	p.Asp143Asn (p.D143N)	NM_001135998.3 M	SNV	VUS	1 +	1
1804013	NDUFB11	c.286T>C	p.Ser96Pro (p.S96P)	NM_001135998.3 M	SNV	LP	1 +	1
1027717	NDUFB11	c.260T>C	p.Met87Thr (p.M87T)	NM_019056.7	SNV	VUS	1 +	1
689468	NDUFB11	c.457G>A	p.Asp153Asn (p.D153N)	NM_019056.7	SNV	VUS	1 +	1
1804013	NDUFB11	c.286T>C	p.Ser96Pro (p.S96P)	NM_019056.7	SNV	LP	1 +	1

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