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Gene: BRIP1 & Disease: FANCJ, 3373 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30535	BRIP1	c.1045G>C	p.Ala349Pro (p.A349P)	NM_032043.3 M	SNV	P	3 +	44
4736	BRIP1	c.139C>G	p.Pro47Ala (p.P47A)	NM_032043.3 M	SNV	P	3 +	42
4738	BRIP1	c.2392C>T	p.Arg798Ter (p.R798X)	NM_032043.3 M	SNV	P	6 +	32
234281	BRIP1	c.2990_2993del	p.Thr997fs (p.T997fs)	NM_032043.3 M	MS	P	3 +	22
234281	BRIP1	c.2990_2993delCAAA	--	NM_032043.3 M	MS	P	3 +	22
128153	BRIP1	c.1255C>T	p.Arg419Trp (p.R419W)	NM_032043.3 M	SNV	LB	3 +	21
461045	BRIP1	c.3072del	p.Ser1025fs (p.S1025fs)	NM_032043.3 M	Del	P	3 +	20
133752	BRIP1	c.2220G>T	p.Gln740His (p.Q740H)	NM_032043.3 M	SNV	LB	3 +	19
133755	BRIP1	c.2440C>T	p.Arg814Cys (p.R814C)	NM_032043.3 M	SNV	LB	3 +	18
241648	BRIP1	c.2992_2993del	p.Lys998fs (p.K998fs)	NM_032043.3 M	Del	P	2 +	17
182345	BRIP1	c.1066C>T	p.Arg356Ter (p.R356X)	NM_032043.3 M	SNV	P	3 +	17
128195	BRIP1	c.790C>T	p.Arg264Trp (p.R264W)	NM_032043.3 M	SNV	LB	3 +	17
140852	BRIP1	c.1871C>A	p.Ser624Ter (p.S624X)	NM_032043.3 M	SNV	P	3 +	16
128180	BRIP1	c.2830C>G	p.Gln944Glu (p.Q944E)	NM_032043.3 M	SNV	LB	3 +	16
143021	BRIP1	c.550G>T	p.Asp184Tyr (p.D184Y)	NM_032043.3 M	SNV	VUS	2 +	15
185848	BRIP1	c.751C>T	p.Arg251Cys (p.R251C)	NM_032043.3 M	SNV	P	3 +	15
142343	BRIP1	c.2400C>G	p.Tyr800Ter (p.Y800X)	NM_032043.3 M	SNV	P	5 +	14
185226	BRIP1	c.2285G>A	p.Arg762His (p.R762H)	NM_032043.3 M	SNV	VUS	3 +	14
187416	BRIP1	c.2992_2995del	p.Lys998fs (p.K998fs)	NM_032043.3 M	Del	P	3 +	14
128154	BRIP1	c.1315C>T	p.Arg439Ter (p.R439X)	NM_032043.3 M	SNV	P	3 +	14

3373 Results, 20 per Page

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