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Gene: SLC25A38 & Disease: SIDBA2, 204 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1118	SLC25A38	c.349C>T	p.Arg117Ter (p.R117X)	NM_017875.4 M	SNV	P	1 +	7
1118	SLC25A38	c.349C>T	p.Arg117Ter (p.R117X)	NM_001354798.2	SNV	P	1 +	7
1172486	SLC25A38	c.560G>A	p.Arg187Gln (p.R187Q)	NM_017875.4 M	SNV	P	1 +	6
1172486	SLC25A38	c.560G>A	p.Arg187Gln (p.R187Q)	NM_001354798.2	SNV	P	1 +	6
1172490	SLC25A38	c.832C>T	p.Arg278Ter (p.R278X)	NM_017875.4 M	SNV	P	1 +	5
631919	SLC25A38	c.400C>T	p.Arg134Cys (p.R134C)	NM_017875.4 M	SNV	P	1 +	5
1119	SLC25A38	c.324_325del	p.Tyr109fs (p.Y109fs)	NM_017875.4 M	MS	P	1 +	5
1172490	SLC25A38	c.665C>T	p.Pro222Leu (p.P222L)	NM_001354798.2	SNV	P	1 +	5
631919	SLC25A38	c.400C>T	p.Arg134Cys (p.R134C)	NM_001354798.2	SNV	P	1 +	5
1119	SLC25A38	c.324_325del	p.Tyr109fs (p.Y109fs)	NM_001354798.2	MS	P	1 +	5
1122	SLC25A38	c.790A>T	p.Lys264Ter (p.K264X)	NM_017875.4 M	SNV	P	1 +	4
1122	SLC25A38	c.626-1824A>T	--	NM_001354798.2	SNV	P	1 +	4
1172505	SLC25A38	c.879T>G	p.Tyr293Ter (p.Y293X)	NM_017875.4 M	SNV	P	1 +	3
631920	SLC25A38	c.625G>C	p.Asp209His (p.D209H)	NM_017875.4 M	SNV	P	1 +	3
1120	SLC25A38	c.560G>C	p.Arg187Pro (p.R187P)	NM_017875.4 M	SNV	P	1 +	3
1172488	SLC25A38	c.401G>A	p.Arg134His (p.R134H)	NM_017875.4 M	SNV	P	1 +	3
1172509	SLC25A38	c.409dup	p.Ala137fs (p.A137fs)	NM_017875.4 M	Dup	P	1 +	3
1172505	SLC25A38	c.712T>G	p.Ter238Gly (p.X238G)	NM_001354798.2	SNV	P	1 +	3
631920	SLC25A38	c.625G>C	p.Gly209Arg (p.G209R)	NM_001354798.2	SNV	P	1 +	3
1120	SLC25A38	c.560G>C	p.Arg187Pro (p.R187P)	NM_001354798.2	SNV	P	1 +	3

204 Results, 20 per Page

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