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Gene: TBXT & Disease: SAVA, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
126564	TBXT	c.512A>G	p.His171Arg (p.H171R)	NM_001366285.2 M	SNV	P	1 +	1
	TBXT	c.512A>G	p.His171Arg (p.H171R)	NM_001270484.2	SNV	P	1 +	1
	TBXT	c.512A>G	p.His171Arg (p.H171R)	NM_001366286.2	SNV	P	1 +	1
	TBXT	c.512A>G	p.His171Arg (p.H171R)	NM_003181.4	SNV	P	1 +	1
1030636	TBXT	c.466G>T	p.Gly156Cys (p.G156C)	NM_001366285.2 M	SNV	VUS	1 +	0
	TBXT	c.466G>T	p.Gly156Cys (p.G156C)	NM_001270484.2	SNV	VUS	1 +	0
	TBXT	c.466G>T	p.Gly156Cys (p.G156C)	NM_001366286.2	SNV	VUS	1 +	0
	TBXT	c.466G>T	p.Gly156Cys (p.G156C)	NM_003181.4	SNV	VUS	1 +	0

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