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Gene: ARSA & Disease: Leukodystrophy, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3080	ARSA	c.1010A>T	p.Asp337Val (p.D337V)	NM_000487.6 M	SNV	P	3 +	9
	ARSA	c.1010A>T	p.Asp337Val (p.D337V)	NM_001085425.3	SNV	P	3 +	9
	ARSA	c.1010A>T	p.Asp337Val (p.D337V)	NM_001085426.3	SNV	P	3 +	9
	ARSA	c.1010A>T	p.Asp337Val (p.D337V)	NM_001085427.3	SNV	P	3 +	9
	ARSA	c.752A>T	p.Asp251Val (p.D251V)	NM_001085428.3	SNV	P	3 +	9
	ARSA	c.752A>T	p.Asp251Val (p.D251V)	NM_001362782.2	SNV	P	3 +	9

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