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Gene: VAX1 & Disease: MCOPS11, 38 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1902601	VAX1	c.375G>T	p.Val125= (p.V125=)	NM_001112704.2 M	SNV	LB	1 +	1
2169358	VAX1	c.470A>G	p.Lys157Arg (p.K157R)	NM_001112704.2 M	SNV	VUS	1 +	1
283191	VAX1	c.642G>A	p.Leu214= (p.L214=)	NM_001112704.2 M	SNV	LB	1 +	1
473143	VAX1	c.312dup	p.Thr105fs (p.T105fs)	NM_001112704.2 M	Dup	VUS	1 +	1
473144	VAX1	c.993dup	p.Ala332fs (p.A332fs)	NM_001112704.2 M	Dup	VUS	1 +	1
2092858	VAX1	c.242-5C>T	--	NM_001112704.2 M	SNV	LB	1 +	1
1899584	VAX1	c.821G>T	p.Ser274Ile (p.S274I)	NM_001112704.2 M	SNV	VUS	1 +	1
2026441	VAX1	c.651G>C	p.Leu217= (p.L217=)	NM_001112704.2 M	SNV	B	1 +	1
2038987	VAX1	c.642G>C	p.Leu214Phe (p.L214F)	NM_001112704.2 M	SNV	VUS	1 +	1
1360975	VAX1	c.671_685dup	p.Gly224_Ala228dup	NM_001112704.2 M	Dup	VUS	1 +	1
36954	VAX1	c.454C>A	p.Arg152Ser (p.R152S)	NM_001112704.2 M	SNV	P	1 +	1
707040	VAX1	c.688G>A	p.Ala230Thr (p.A230T)	NM_001112704.2 M	SNV	LB	1 +	1
838114	VAX1	c.684_692dup	p.Ala231_Ala233dup	NM_001112704.2 M	Dup	B	1 +	1
707045	VAX1	c.678C>T	p.Ala226= (p.A226=)	NM_001112704.2 M	SNV	LB	1 +	1
766821	VAX1	c.126C>T	p.Ala42= (p.A42=)	NM_001112704.2 M	SNV	LB	1 +	1
737771	VAX1	c.675G>T	p.Ser225= (p.S225=)	NM_001112704.2 M	SNV	LB	1 +	1
1116533	VAX1	c.624G>A	p.Ala208= (p.A208=)	NM_001112704.2 M	SNV	LB	1 +	1
771071	VAX1	c.621A>T	p.Ser207= (p.S207=)	NM_001112704.2 M	SNV	LB	1 +	1
1902601	VAX1	c.375G>T	p.Val125= (p.V125=)	NM_199131.3	SNV	LB	1 +	1
2169358	VAX1	c.429+1929A>G	--	NM_199131.3	SNV	VUS	1 +	1

38 Results, 20 per Page

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