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Gene: SDHAF1 & Disease: MC2DN1, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
280451	SDHAF1	c.156C>A	p.Tyr52Ter (p.Y52X)	NM_001042631.3 M	SNV	P	3 +	4
1033243	SDHAF1	c.*5C>A	--	NM_001042631.3 M	SNV	VUS	2 +	1
691614	SDHAF1	c.29A>C	p.Gln10Pro (p.Q10P)	NM_001042631.3 M	SNV	VUS	2 +	1
139089	SDHAF1	c.333C>G	p.Arg111= (p.R111=)	NM_001042631.3 M	SNV	LB	2 +	1
139090	SDHAF1	c.334C>T	p.Pro112Ser (p.P112S)	NM_001042631.3 M	SNV	LB	2 +	1
890369	SDHAF1	c.*66G>A	--	NM_001042631.3 M	SNV	VUS	2 +	0
890370	SDHAF1	c.*229C>T	--	NM_001042631.3 M	SNV	LB	2 +	0
996867	SDHAF1	c.319G>T	p.Ala107Ser (p.A107S)	NM_001042631.3 M	SNV	VUS	2 +	0
890371	SDHAF1	c.*248C>T	--	NM_001042631.3 M	SNV	VUS	2 +	0
890368	SDHAF1	c.117T>C	p.His39= (p.H39=)	NM_001042631.3 M	SNV	VUS	2 +	0
890928	SDHAF1	c.*323C>G	--	NM_001042631.3 M	SNV	VUS	2 +	0
890929	SDHAF1	c.*327C>A	--	NM_001042631.3 M	SNV	VUS	2 +	0
328899	SDHAF1	c.-64C>G	--	NM_001042631.3 M	SNV	VUS	2 +	0
328900	SDHAF1	c.*156G>T	--	NM_001042631.3 M	SNV	LB	2 +	0
328901	SDHAF1	c.*329G>C	--	NM_001042631.3 M	SNV	VUS	2 +	0
328902	SDHAF1	c.*622A>G	--	NM_001042631.3 M	SNV	B	2 +	0
328903	SDHAF1	c.*682A>T	--	NM_001042631.3 M	SNV	VUS	2 +	0
888668	SDHAF1	c.49G>A	p.Asp17Asn (p.D17N)	NM_001042631.3 M	SNV	VUS	2 +	0
888667	SDHAF1	c.46C>T	p.Arg16Cys (p.R16C)	NM_001042631.3 M	SNV	VUS	2 +	0
888666	SDHAF1	c.3G>A	p.Met1Ile (p.M1I)	NM_001042631.3 M	SNV	VUS	2 +	0

共20个结果, 每页展示20条

Comparison