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Gene: BRCA2 & Disease: BROVCA1, 112 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9322	BRCA2	c.2808_2811del	p.Ala938fs (p.A938fs)	NM_000059.4 M	Del	P	6 +	93
9342	BRCA2	c.658_659del	p.Val220fs (p.V220fs)	NM_000059.4 M	Del	P	12 +	69
52353	BRCA2	c.7558C>T	p.Arg2520Ter (p.R2520X)	NM_000059.4 M	SNV	P	4 +	56
38043	BRCA2	c.6405_6409del	p.Asn2135fs (p.N2135fs)	NM_000059.4 M	Del	P	6 +	53
38215	BRCA2	c.9117G>A	p.Pro3039= (p.P3039=)	NM_000059.4 M	SNV	P	12 +	52
38233	BRCA2	c.9371A>T	p.Asn3124Ile (p.N3124I)	NM_000059.4 M	SNV	P	4 +	47
38208	BRCA2	c.9097dup	p.Thr3033fs (p.T3033fs)	NM_000059.4 M	Dup	P	6 +	43
37943	BRCA2	c.5073dup	p.Trp1692fs (p.W1692fs)	NM_000059.4 M	Dup	P	12 +	42
9326	BRCA2	c.771_775del	p.Asn257fs (p.N257fs)	NM_000059.4 M	Del	P	4 +	42
52471	BRCA2	c.8009C>T	p.Ser2670Leu (p.S2670L)	NM_000059.4 M	SNV	P	10 +	41
9320	BRCA2	c.5722_5723del	p.Leu1908fs (p.L1908fs)	NM_000059.4 M	MS	P	11 +	40
37762	BRCA2	c.1813dup	p.Ile605fs (p.I605fs)	NM_000059.4 M	Dup	P	6 +	38
51775	BRCA2	c.5130_5133del	p.Asp1709_Tyr1710insTer	NM_000059.4 M	Del	P	5 +	36
38082	BRCA2	c.7069_7070del	p.Leu2357fs (p.L2357fs)	NM_000059.4 M	Del	P	4 +	35
37935	BRCA2	c.4936_4939del	p.Glu1646fs (p.E1646fs)	NM_000059.4 M	Del	P	10 +	33
38047	BRCA2	c.6468_6469del	p.Gln2157fs (p.Q2157fs)	NM_000059.4 M	MS	P	7 +	32
51578	BRCA2	c.3975_3978dup	p.Ala1327fs (p.A1327fs)	NM_000059.4 M	Dup	P	5 +	32
52763	BRCA2	c.9154C>T	p.Arg3052Trp (p.R3052W)	NM_000059.4 M	SNV	P	4 +	29
38229	BRCA2	c.9294C>G	p.Tyr3098Ter (p.Y3098X)	NM_000059.4 M	SNV	P	10 +	28
38001	BRCA2	c.5851_5854del	p.Ser1951fs (p.S1951fs)	NM_000059.4 M	Del	P	5 +	28

112 Results, 20 per Page

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