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Gene: DARS2 & Disease: SPAX, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1027434	DARS2	c.416T>C	p.Ile139Thr (p.I139T)	NM_018122.5 M	SNV	LP	1 +	0
1027436	DARS2	c.233delA	--	NM_018122.5 M	Del	P	1 +	0
1027436	DARS2	c.233del	p.Asn78fs (p.N78fs)	NM_018122.5 M	Del	P	1 +	0
1027434	DARS2	c.416T>C	p.Ile139Thr (p.I139T)	NM_001365212.1	SNV	LP	1 +	0
1027434	DARS2	c.416T>C	p.Ile139Thr (p.I139T)	NM_001365213.2	SNV	LP	1 +	0
1027436	DARS2	c.233del	p.Asn78fs (p.N78fs)	NM_001365212.1	Del	P	1 +	0
1027436	DARS2	c.233del	p.Asn78fs (p.N78fs)	NM_001365213.2	Del	P	1 +	0

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