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Gene: ATP9A & Disease: NEDGBA, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2443776	ATP9A	c.983G>A	p.Trp328Ter (p.W328X)	NM_006045.3 M	SNV	P	1 +	1
1284891	ATP9A	c.799+1G>T	--	NM_006045.3 M	SNV	P	1 +	1
1706531	ATP9A	c.868C>T	p.Arg290Ter (p.R290X)	NM_006045.3 M	SNV	P	1 +	1
2443772	ATP9A	c.642+1G>A	--	NM_006045.3 M	SNV	P	1 +	1
2443774	ATP9A	c.433C>T	p.Arg145Ter (p.R145X)	NM_006045.3 M	SNV	P	1 +	1
2443775	ATP9A	c.658C>T	p.Arg220Ter (p.R220X)	NM_006045.3 M	SNV	P	1 +	1

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