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Mutation Direct

Effortless mutation search and display tool

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Gene: AMER3 & Disease: Tracheoesophageal Fistula, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
916554	AMER3	c.2236C>T	p.Arg746Ter (p.R746X)	NM_152698.3 M	SNV	LP	1 +	1
	AMER3	c.2236C>T	p.Arg746Ter (p.R746X)	NM_001105193.2	SNV	LP	1 +	1
	AMER3	c.2236C>T	p.Arg746Ter (p.R746X)	NM_001105194.2	SNV	LP	1 +	1
	AMER3	c.2236C>T	p.Arg746Ter (p.R746X)	NM_001105195.2	SNV	LP	1 +	1

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