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Gene: DUSP6 & Disease: HH19, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
802882	DUSP6	c.340G>T	p.Val114Leu (p.V114L)	NM_001946.4 M	SNV	B	1 +	2
802882	DUSP6	c.340G>T	p.Val114Leu (p.V114L)	NM_022652.4	SNV	B	1 +	2
50854	DUSP6	c.566A>G	p.Asn189Ser (p.N189S)	NM_001946.4 M	SNV	P	1 +	1
50855	DUSP6	c.545C>T	p.Ser182Phe (p.S182F)	NM_001946.4 M	SNV	LB	1 +	1
50856	DUSP6	c.1037C>T	p.Thr346Met (p.T346M)	NM_001946.4 M	SNV	LB	1 +	1
50857	DUSP6	c.229T>A	p.Phe77Ile (p.F77I)	NM_001946.4 M	SNV	P	1 +	1
1029551	DUSP6	c.169G>A	p.Ala57Thr (p.A57T)	NM_001946.4 M	SNV	VUS	1 +	1
1033462	DUSP6	c.117C>A	p.Cys39Ter (p.C39X)	NM_001946.4 M	SNV	P	1 +	1
50854	DUSP6	c.400+780A>G	--	NM_022652.4	SNV	P	1 +	1
50855	DUSP6	c.400+759C>T	--	NM_022652.4	SNV	LB	1 +	1
50856	DUSP6	c.599C>T	p.Thr200Met (p.T200M)	NM_022652.4	SNV	LB	1 +	1
50857	DUSP6	c.229T>A	p.Phe77Ile (p.F77I)	NM_022652.4	SNV	P	1 +	1
1029551	DUSP6	c.169G>A	p.Ala57Thr (p.A57T)	NM_022652.4	SNV	VUS	1 +	1
1033462	DUSP6	c.117C>A	p.Cys39Ter (p.C39X)	NM_022652.4	SNV	P	1 +	1

14 Results, 20 per Page

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