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Gene: HADHB & Disease: MTPD, 729 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
449456	HADHB	c.181C>T	p.Arg61Cys (p.R61C)	NM_000183.3 M	SNV	P	3 +	6
14849	HADHB	c.1364T>G	p.Val455Gly (p.V455G)	NM_000183.3 M	SNV	P	3 +	6
449456	HADHB	c.181C>T	p.Arg61Cys (p.R61C)	NM_001281512.2	SNV	P	3 +	6
449456	HADHB	c.115C>T	p.Arg39Cys (p.R39C)	NM_001281513.2	SNV	P	3 +	6
14849	HADHB	c.1319T>G	p.Val440Gly (p.V440G)	NM_001281512.2	SNV	P	3 +	6
14849	HADHB	c.1298T>G	p.Val433Gly (p.V433G)	NM_001281513.2	SNV	P	3 +	6
418243	HADHB	c.210-1G>T	--	NM_000183.3 M	SNV	P	3 +	5
	HADHB	c.144-1G>T	--	NM_001281513.2	SNV	P	3 +	5
	HADHB	c.210-3699G>T	--	NM_001281512.2	SNV	P	3 +	5
1217468	HADHB	c.1289T>C	p.Phe430Ser (p.F430S)	NM_000183.3 M	SNV	P	3 +	4
916614	HADHB	c.255-1G>A	--	NM_000183.3 M	SNV	P	3 +	4
2203024	HADHB	c.1150-1G>T	--	NM_000183.3 M	SNV	LP	3 +	4
1469905	HADHB	c.1150-2A>G	--	NM_000183.3 M	SNV	LP	3 +	4
1217468	HADHB	c.1244T>C	p.Phe415Ser (p.F415S)	NM_001281512.2	SNV	P	3 +	4
1217468	HADHB	c.1223T>C	p.Phe408Ser (p.F408S)	NM_001281513.2	SNV	P	3 +	4
916614	HADHB	c.210-1G>A	--	NM_001281512.2	SNV	P	3 +	4
916614	HADHB	c.189-1G>A	--	NM_001281513.2	SNV	P	3 +	4
2203024	HADHB	c.1084-1G>T	--	NM_001281513.2	SNV	LP	3 +	4
2203024	HADHB	c.1105-1G>T	--	NM_001281512.2	SNV	LP	3 +	4
1469905	HADHB	c.1084-2A>G	--	NM_001281513.2	SNV	LP	3 +	4

729 Results, 20 per Page

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