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Gene: SDHD & Disease: CWS1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
964700	SDHD	c.124_127delinsATA	p.Glu42fs (p.E42fs)	NM_003002.4 M	Indel	P	5 +	2
820002	SDHD	c.175T>C	p.Ser59Pro (p.S59P)	NM_003002.4 M	SNV	VUS	6 +	2
964700	SDHD	c.124_127delinsATA	p.Glu42fs (p.E42fs)	NM_001276503.2	Indel	P	5 +	2
	SDHD	c.124_127delinsATA	p.Glu42fs (p.E42fs)	NM_001276506.2	Indel	P	5 +	2
	SDHD	c.53-939_53-936delinsATA	--	NM_001276504.2	Indel	P	5 +	2
820002	SDHD	c.58T>C	p.Ser20Pro (p.S20P)	NM_001276504.2	SNV	VUS	6 +	2
	SDHD	c.175T>C	p.Ser59Pro (p.S59P)	NM_001276506.2	SNV	VUS	6 +	2
	SDHD	c.169+899T>C	--	NM_001276503.2	SNV	VUS	6 +	2

8 Results, 20 per Page

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