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Gene: VAMP1 & Disease: SPAX1, 24 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
995356	VAMP1	c.252C>A	p.Ala84= (p.A84=)	NM_014231.5 M	SNV	B	3 +	3
	VAMP1	c.252C>A	p.Ala84= (p.A84=)	NM_001297438.2	SNV	B	3 +	3
	VAMP1	c.252C>A	p.Ala84= (p.A84=)	NM_016830.4	SNV	B	3 +	3
	VAMP1	c.252C>A	p.Ala84= (p.A84=)	NM_199245.3	SNV	B	3 +	3
240888	VAMP1	c.340+2T>G	--	NM_014231.5 M	SNV	P	2 +	2
	VAMP1	c.342T>G	p.Ser114Arg (p.S114R)	NM_199245.3	SNV	P	2 +	2
	VAMP1	c.340+2T>G	--	NM_016830.4	SNV	P	2 +	2
	VAMP1	c.340+2T>G	--	NM_001297438.2	SNV	P	2 +	2
1280091	VAMP1	c.130-25T>A	--	NM_014231.5 M	SNV	B	3 +	1
1234868	VAMP1	c.*1588T>C	--	NM_014231.5 M	SNV	B	3 +	1
619001	VAMP1	c.340del	p.Ile114fs (p.I114fs)	NM_014231.5 M	Del	P	3 +	1
2575084	VAMP1	c.152dup	p.Asn51fs (p.N51fs)	NM_014231.5 M	Dup	LP	2 +	1
1280091	VAMP1	c.130-25T>A	--	NM_016830.4	SNV	B	3 +	1
	VAMP1	c.130-25T>A	--	NM_001297438.2	SNV	B	3 +	1
	VAMP1	c.130-25T>A	--	NM_199245.3	SNV	B	3 +	1
1234868	VAMP1	c.*77T>C	--	NM_001297438.2	SNV	B	3 +	1
	VAMP1	c.*1994T>C	--	NM_199245.3	SNV	B	3 +	1
	VAMP1	c.341-40T>C	--	NM_016830.4	SNV	B	3 +	1
619001	VAMP1	c.340del	p.Arg114fs (p.R114fs)	NM_001297438.2	Del	P	3 +	1
619001	VAMP1	c.340del	p.Arg114fs (p.R114fs)	NM_016830.4	Del	P	3 +	1

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