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Gene: ATP1A3 & Disease: Dystonia, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
37107	ATP1A3	c.2401G>A	p.Asp801Asn (p.D801N)	NM_152296.5 M	SNV	P	6 +	17
	ATP1A3	c.2434G>A	p.Asp812Asn (p.D812N)	NM_001256213.2	SNV	P	6 +	17
	ATP1A3	c.2440G>A	p.Asp814Asn (p.D814N)	NM_001256214.2	SNV	P	6 +	17
37108	ATP1A3	c.2443G>A	p.Glu815Lys (p.E815K)	NM_152296.5 M	SNV	P	7 +	13
	ATP1A3	c.2476G>A	p.Glu826Lys (p.E826K)	NM_001256213.2	SNV	P	7 +	13
	ATP1A3	c.2482G>A	p.Glu828Lys (p.E828K)	NM_001256214.2	SNV	P	7 +	13

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