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Gene: EDA2R & Disease: XHED, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
39591	EDA2R	c.253del	p.Asp85fs (p.D85fs)	NM_021783.5 M	Del	VUS	1 +	1
	EDA2R	c.253del	p.Asp85fs (p.D85fs)	NM_001199687.3	Del	VUS	1 +	1
	EDA2R	c.253del	p.Asp85fs (p.D85fs)	NM_001242310.1	Del	VUS	1 +	1
	EDA2R	c.237del	p.Thr80fs (p.T80fs)	NM_001324201.2	Del	VUS	1 +	1
	EDA2R	c.253del	p.Asp85fs (p.D85fs)	NM_001324206.2	Del	VUS	1 +	1
	EDA2R	c.72-2264del	--	NM_001324202.2	Del	VUS	1 +	1
	EDA2R	c.72-2264del	--	NM_001324199.2	Del	VUS	1 +	1
	EDA2R	c.56-2264del	--	NM_001324205.2	Del	VUS	1 +	1
	EDA2R	c.56-2264del	--	NM_001324204.2	Del	VUS	1 +	1

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