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Gene: WNT1 & Disease: OI15, 17 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1332774	WNT1	c.506dup	p.Cys170fs (p.C170fs)	NM_005430.4 M	Dup	P	2 +	6
50260	WNT1	c.884C>A	p.Ser295Ter (p.S295X)	NM_005430.4 M	SNV	P	1 +	6
180210	WNT1	c.1026del	p.Glu343fs (p.E343fs)	NM_005430.4 M	Del	P	1 +	4
218673	WNT1	c.264T>A	p.Ser88Arg (p.S88R)	NM_005430.4 M	SNV	LB	3 +	2
2438690	WNT1	c.255del	p.Leu86fs (p.L86fs)	NM_005430.4 M	Del	P	1 +	1
1687618	WNT1	c.893T>G	p.Phe298Cys (p.F298C)	NM_005430.4 M	SNV	LP	1 +	1
1299523	WNT1	c.617G>A	p.Gly206Asp (p.G206D)	NM_005430.4 M	SNV	LP	1 +	1
50257	WNT1	c.859dup	p.His287fs (p.H287fs)	NM_005430.4 M	Dup	P	2 +	1
50258	WNT1	c.624+4A>G	--	NM_005430.4 M	SNV	P	1 +	1
50259	WNT1	c.565G>T	p.Glu189Ter (p.E189X)	NM_005430.4 M	SNV	P	1 +	1
50261	WNT1	c.946_949dup	p.Ser317fs (p.S317fs)	NM_005430.4 M	Dup	P	1 +	1
50262	WNT1	c.1063G>T	p.Val355Phe (p.V355F)	NM_005430.4 M	SNV	P	2 +	1
2434662	WNT1	c.331dup	p.His111fs (p.H111fs)	NM_005430.4 M	Dup	LP	1 +	1
1683629	WNT1	c.860dup	p.His287fs (p.H287fs)	NM_005430.4 M	Dup	LP	1 +	1
488347	WNT1	c.104+4_104+44del	--	NM_005430.4 M	Del	LP	1 +	1
873444	WNT1	c.1060del	p.His354fs (p.H354fs)	NM_005430.4 M	Del	VUS	1 +	1
592130	WNT1	c.1090C>G	p.Arg364Gly (p.R364G)	NM_005430.4 M	SNV	VUS	1 +	0

17 Results, 20 per Page

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