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Gene: FUT1 & Disease: Bombay Phenotype, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
12142	FUT1	c.725T>G	p.Leu242Arg (p.L242R)	NM_001384359.1 M	SNV	P	1 +	2
	FUT1	c.725T>G	p.Leu242Arg (p.L242R)	NM_000148.4	SNV	P	1 +	2
	FUT1	c.725T>G	p.Leu242Arg (p.L242R)	NM_001329877.1	SNV	P	1 +	2
12139	FUT1	c.948C>G	p.Tyr316Ter (p.Y316X)	NM_001384359.1 M	SNV	VUS	1 +	1
	FUT1	c.948C>G	p.Tyr316Ter (p.Y316X)	NM_000148.4	SNV	VUS	1 +	1
	FUT1	c.948C>G	p.Tyr316Ter (p.Y316X)	NM_001329877.1	SNV	VUS	1 +	1

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