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Gene: NFS1 & Disease: COXPD52, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1171019	NFS1	c.215G>A	p.Arg72Gln (p.R72Q)	NM_021100.5 M	SNV	P	1 +	2
1932537	NFS1	c.823C>T	p.Arg275Cys (p.R275C)	NM_021100.5 M	SNV	VUS	1 +	2
1171019	NFS1	c.215G>A	p.Arg72Gln (p.R72Q)	NM_001198989.2	SNV	P	1 +	2
1932537	NFS1	c.670C>T	p.Arg224Cys (p.R224C)	NM_001198989.2	SNV	VUS	1 +	2
1407818	NFS1	c.948+1G>T	--	NM_021100.5 M	SNV	VUS	1 +	1
1407818	NFS1	c.795+1G>T	--	NM_001198989.2	SNV	VUS	1 +	1

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