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Gene: HBA2 & Disease: HBH, 17 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
15624	HBA2	c.427T>C	p.Ter143Gln (p.X143Q)	NM_000517.6 M	SNV	P	2 +	30
439771	HBA2	c.369C>G	p.His123Gln (p.H123Q)	NM_000517.6 M	SNV	VUS	4 +	20
15630	HBA2	c.377T>C	p.Leu126Pro (p.L126P)	NM_000517.6 M	SNV	P	4 +	13
15651	HBA2	c.89T>C	p.Leu30Pro (p.L30P)	NM_000517.6 M	SNV	P	1 +	13
15647	HBA2	c.*92A>G	--	NM_000517.6 M	SNV	P	4 +	9
375746	HBA2	c.95+2_95+6del	--	NM_000517.6 M	Del	P	4 +	9
375746	HBA2	c.95+2_95+6delTGAGG	--	NM_000517.6 M	Del	P	4 +	9
15652	HBA2	c.429A>T	p.Ter143Tyr (p.X143Y)	NM_000517.6 M	SNV	P	2 +	8
15626	HBA2	c.427T>A	p.Ter143Lys (p.X143K)	NM_000517.6 M	SNV	P	2 +	8
375749	HBA2	c.*94A>G	--	NM_000517.6 M	SNV	P	4 +	6
15692	HBA2	c.2del	p.Met1fs (p.M1fs)	NM_000517.6 M	Del	P	2 +	4
15656	HBA2	c.314G>A	p.Cys105Tyr (p.C105Y)	NM_000517.6 M	SNV	P	2 +	3
15645	HBA2	c.1A>G	p.Met1Val (p.M1V)	NM_000517.6 M	SNV	P	2 +	3
993108	HBA2	c.358C>G	p.Pro120Ala (p.P120A)	NM_000517.6 M	SNV	VUS	1 +	2
15679	HBA2	c.96-2A>G	--	NM_000517.6 M	SNV	P	4 +	2
827660	HBA2	c.-59C>T	--	NM_000517.6 M	SNV	VUS	4 +	2
15668	HBA2	c.301-1G>A	--	NM_000517.6 M	SNV	P	4 +	1

17 Results, 20 per Page

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