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Gene: NDUFS6 & Disease: MC1DN9, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
983268	NDUFS6	c.309+5G>A	--	NM_004553.6 M	SNV	P	1 +	4
6018	NDUFS6	c.344G>A	p.Cys115Tyr (p.C115Y)	NM_004553.6 M	SNV	P	1 +	3
1398895	NDUFS6	c.92G>T	p.Arg31Leu (p.R31L)	NM_004553.6 M	SNV	VUS	1 +	2
6016	NDUFS6	c.186+2T>A	--	NM_004553.6 M	SNV	P	1 +	1
2432093	NDUFS6	c.223C>T	p.Gln75Ter (p.Q75X)	NM_004553.6 M	SNV	LP	1 +	0
683115	NDUFS6	c.309+208T>C	--	NM_004553.6 M	SNV	B	1 +	0
800912	NDUFS6	c.80G>A	p.Cys27Tyr (p.C27Y)	NM_004553.6 M	SNV	LP	1 +	0
1185434	NDUFS6	c.187-53_187-50del	--	NM_004553.6 M	MS	B	1 +	0
1333919	NDUFS6	c.356T>A	p.Phe119Tyr (p.F119Y)	NM_004553.6 M	SNV	VUS	1 +	0
1414839	NDUFS6	c.83T>A	p.Phe28Tyr (p.F28Y)	NM_004553.6 M	SNV	VUS	1 +	0
214820	NDUFS6	c.247C>T	p.Arg83Trp (p.R83W)	NM_004553.6 M	SNV	LP	1 +	0
676158	NDUFS6	c.187-84C>T	--	NM_004553.6 M	SNV	B	1 +	0
983422	NDUFS6	c.2T>G	p.Met1Arg (p.M1R)	NM_004553.6 M	SNV	VUS	1 +	0
353193	NDUFS6	c.310-15T>C	--	NM_004553.6 M	SNV	B	2 +	0
1185223	NDUFS6	c.132+26A>C	--	NM_004553.6 M	SNV	B	1 +	0
2202065	NDUFS6	c.53C>T	p.Ala18Val (p.A18V)	NM_004553.6 M	SNV	VUS	1 +	0

16 Results, 20 per Page

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