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Gene: SDHAF2 & Disease: FPGL, 365 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
401	SDHAF2	c.232G>A	p.Gly78Arg (p.G78R)	NM_017841.4 M	SNV	P	2 +	10
403423	SDHAF2	c.355dup	p.Tyr119fs (p.Y119fs)	NM_017841.4 M	Dup	P	1 +	5
532508	SDHAF2	c.305_306insA	p.Asn103fs (p.N103fs)	NM_017841.4 M	Ins	P	1 +	4
41836	SDHAF2	c.52A>G	p.Arg18Gly (p.R18G)	NM_017841.4 M	SNV	VUS	1 +	4
411605	SDHAF2	c.476A>C	p.Glu159Ala (p.E159A)	NM_017841.4 M	SNV	VUS	2 +	3
230045	SDHAF2	c.347G>A	p.Trp116Ter (p.W116X)	NM_017841.4 M	SNV	LP	1 +	3
1067722	SDHAF2	c.260+2T>C	--	NM_017841.4 M	SNV	LP	1 +	3
463821	SDHAF2	c.260+1G>A	--	NM_017841.4 M	SNV	LP	1 +	3
2020736	SDHAF2	c.36+1G>A	--	NM_017841.4 M	SNV	LP	1 +	3
660908	SDHAF2	c.261-2A>T	--	NM_017841.4 M	SNV	LP	1 +	3
384524	SDHAF2	c.165G>A	p.Trp55Ter (p.W55X)	NM_017841.4 M	SNV	P	1 +	3
823022	SDHAF2	c.315T>A	p.Tyr105Ter (p.Y105X)	NM_017841.4 M	SNV	P	1 +	3
806678	SDHAF2	c.37-1G>C	--	NM_017841.4 M	SNV	P	2 +	3
231193	SDHAF2	c.206G>A	p.Arg69His (p.R69H)	NM_017841.4 M	SNV	VUS	2 +	3
411611	SDHAF2	c.331G>A	p.Glu111Lys (p.E111K)	NM_017841.4 M	SNV	LB	1 +	3
403424	SDHAF2	c.446_447del	p.Lys149fs (p.K149fs)	NM_017841.4 M	Del	VUS	1 +	3
821217	SDHAF2	c.23C>A	p.Ser8Ter (p.S8X)	NM_017841.4 M	SNV	P	1 +	3
532513	SDHAF2	c.177dup	p.Asp60Ter (p.D60X)	NM_017841.4 M	Dup	P	1 +	2
532518	SDHAF2	c.98G>A	p.Arg33His (p.R33H)	NM_017841.4 M	SNV	LB	1 +	2
1441880	SDHAF2	c.216T>A	p.Tyr72Ter (p.Y72X)	NM_017841.4 M	SNV	P	1 +	2

365 Results, 20 per Page

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