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Mutation Direct

Effortless mutation search and display tool

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Gene: C1S & Disease: HAE3, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
827599	C1S	c.34T>C	p.Trp12Arg (p.W12R)	NM_001734.5 M	SNV	VUS	2 +	1
	C1S	c.34T>C	p.Trp12Arg (p.W12R)	NM_201442.4	SNV	VUS	2 +	1
	C1S	c.-288-387T>C	--	NM_001346850.2	SNV	VUS	2 +	1

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