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Gene: SARS1 & Disease: NEDMAS, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2499499	SARS1	c.904C>T	p.Arg302Cys (p.R302C)	NM_006513.4 M	SNV	P	1 +	1
2499500	SARS1	c.1168C>T	p.Arg390Cys (p.R390C)	NM_006513.4 M	SNV	P	1 +	1
440921	SARS1	c.514G>A	p.Asp172Asn (p.D172N)	NM_006513.4 M	SNV	P	1 +	1
1209576	SARS1	c.638G>T	p.Arg213Leu (p.R213L)	NM_006513.4 M	SNV	P	1 +	1
1327979	SARS1	c.970-22T>C	--	NM_006513.4 M	SNV	B	1 +	1
2506443	SARS1	c.1196C>T	p.Thr399Met (p.T399M)	NM_006513.4 M	SNV	P	1 +	1
2499499	SARS1	c.904C>T	p.Arg302Cys (p.R302C)	NM_001330669.1	SNV	P	1 +	1
2499500	SARS1	c.1168C>T	p.Arg390Cys (p.R390C)	NM_001330669.1	SNV	P	1 +	1
440921	SARS1	c.514G>A	p.Asp172Asn (p.D172N)	NM_001330669.1	SNV	P	1 +	1
1209576	SARS1	c.638G>T	p.Arg213Leu (p.R213L)	NM_001330669.1	SNV	P	1 +	1
1327979	SARS1	c.970-22T>C	--	NM_001330669.1	SNV	B	1 +	1
2506443	SARS1	c.1196C>T	p.Thr399Met (p.T399M)	NM_001330669.1	SNV	P	1 +	1
1327978	SARS1	c.288+9T>C	--	NM_006513.4 M	SNV	B	1 +	0
638324	SARS1	c.950G>A	p.Arg317Gln (p.R317Q)	NM_006513.4 M	SNV	VUS	1 +	0
1327978	SARS1	c.288+9T>C	--	NM_001330669.1	SNV	B	1 +	0
638324	SARS1	c.950G>A	p.Arg317Gln (p.R317Q)	NM_001330669.1	SNV	VUS	1 +	0

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