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Gene: PDHX & Disease: PDHAD, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
138664	PDHX	c.976G>C	p.Val326Leu (p.V326L)	NM_003477.3 M	SNV	LB	2 +	2
	PDHX	c.796G>C	p.Val266Leu (p.V266L)	NM_001135024.2	SNV	LB	2 +	2
	PDHX	c.343-6435G>C	--	NM_001166158.2	SNV	LB	2 +	2
590822	PDHX	c.-48del	--	NM_001135024.2	Del	LP	1 +	0
304456	PDHX	c.-21+41_-21+43del	--	NM_001135024.2	Del	B	1 +	0

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