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Gene: OCRL & Disease: DENT1, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1723236	OCRL	c.1580T>A	p.Val527Asp (p.V527D)	NM_000276.4 M	SNV	LP	1 +	4
	OCRL	c.1583T>A	p.Val528Asp (p.V528D)	NM_001318784.2	SNV	LP	1 +	4
	OCRL	c.1580T>A	p.Val527Asp (p.V527D)	NM_001587.4	SNV	LP	1 +	4
1878394	OCRL	c.2582-1G>C	--	NM_000276.4 M	SNV	LP	1 +	1
	OCRL	c.2585-1G>C	--	NM_001318784.2	SNV	LP	1 +	1
	OCRL	c.2558-1G>C	--	NM_001587.4	SNV	LP	1 +	1

共6个结果, 每页展示20条

1

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