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Gene: SBDS & Disease: AA, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3195	SBDS	c.183_184delinsCT	p.Lys62Ter (p.K62X)	NM_016038.4 M	Indel	P	2 +	25
3195	SBDS	c.183_184delTAinsCT	--	NM_016038.4 M	Indel	P	2 +	25
3196	SBDS	c.258+2T>C	--	NM_016038.4 M	SNV	P	6 +	23
21538	SBDS	c.258+1G>C	--	NM_016038.4 M	SNV	P	2 +	6
21545	SBDS	c.652C>T	p.Arg218Ter (p.R218X)	NM_016038.4 M	SNV	P	2 +	2
21539	SBDS	c.297_300del	p.Glu99fs (p.E99fs)	NM_016038.4 M	MS	P	2 +	1
265256	SBDS	c.120del	p.Ser41fs (p.S41fs)	NM_016038.4 M	Del	P	2 +	1
418467	SBDS	c.523C>T	p.Arg175Trp (p.R175W)	NM_016038.4 M	SNV	LP	2 +	0
1675126	SBDS	c.173T>C	p.Val58Ala (p.V58A)	NM_016038.4 M	SNV	VUS	2 +	0

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