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Gene: ATP6V1A & Disease: ARCL2D, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
417772	ATP6V1A	c.1012C>T	p.Arg338Cys (p.R338C)	NM_001690.4 M	SNV	P	1 +	2
417773	ATP6V1A	c.215G>A	p.Gly72Asp (p.G72D)	NM_001690.4 M	SNV	P	1 +	1
1584157	ATP6V1A	c.1291-7dup	--	NM_001690.4 M	Dup	LB	2 +	0
931142	ATP6V1A	c.1227-6A>G	--	NM_001690.4 M	SNV	VUS	1 +	0
930734	ATP6V1A	c.1531G>C	p.Val511Leu (p.V511L)	NM_001690.4 M	SNV	VUS	1 +	0

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