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Gene: EDNRB & Disease: Waardenburg Syndrome, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
228662	EDNRB	c.1285G>A	p.Gly429Arg (p.G429R)	NM_001122659.3 M	SNV	VUS	5 +	3
	EDNRB	c.1285G>A	p.Gly429Arg (p.G429R)	NM_000115.5	SNV	VUS	5 +	3
	EDNRB	c.1194+1615G>A	--	NM_003991.4	SNV	VUS	5 +	3
1064933	EDNRB	c.-51-974T>A	--	NM_000115.5	SNV	LP	3 +	2
312463	EDNRB	c.918_921del	--	NM_001122659.3 M	Del	VUS	2 +	0
312465	EDNRB	c.*859C>T	--	NM_001122659.3 M	SNV	VUS	2 +	0
312463	EDNRB	c.918_921del	--	NM_000115.5	Del	VUS	2 +	0
312463	EDNRB	c.1195-724_1195-721del	--	NM_003991.4	Del	VUS	2 +	0
312465	EDNRB	c.*859C>T	--	NM_000115.5	SNV	VUS	2 +	0
312465	EDNRB	c.1195-783C>T	--	NM_003991.4	SNV	VUS	2 +	0

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