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Gene: CRYBB3 & Disease: CTRCT22, 55 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
534700	CRYBB3	c.466G>A	p.Gly156Arg (p.G156R)	NM_004076.5 M	SNV	P	1 +	5
16948	CRYBB3	c.493G>C	p.Gly165Arg (p.G165R)	NM_004076.5 M	SNV	P	1 +	2
259228	CRYBB3	c.314G>A	p.Arg105Gln (p.R105Q)	NM_004076.5 M	SNV	LB	1 +	2
259229	CRYBB3	c.337C>G	p.His113Asp (p.H113D)	NM_004076.5 M	SNV	B	1 +	2
259230	CRYBB3	c.471-6C>T	--	NM_004076.5 M	SNV	LB	1 +	2
466359	CRYBB3	c.475G>A	p.Val159Ile (p.V159I)	NM_004076.5 M	SNV	LB	1 +	2
1381388	CRYBB3	c.157C>A	p.Leu53Met (p.L53M)	NM_004076.5 M	SNV	VUS	1 +	1
653862	CRYBB3	c.471-5G>A	--	NM_004076.5 M	SNV	VUS	1 +	1
1639465	CRYBB3	c.75+18G>A	--	NM_004076.5 M	SNV	LB	1 +	1
631888	CRYBB3	c.327+1G>T	--	NM_004076.5 M	SNV	LB	1 +	1
903287	CRYBB3	c.235T>A	p.Phe79Ile (p.F79I)	NM_004076.5 M	SNV	LB	1 +	1
658617	CRYBB3	c.380G>A	p.Arg127His (p.R127H)	NM_004076.5 M	SNV	VUS	1 +	1
900831	CRYBB3	c.531G>T	p.Glu177Asp (p.E177D)	NM_004076.5 M	SNV	VUS	1 +	1
1003766	CRYBB3	c.263G>A	p.Arg88His (p.R88H)	NM_004076.5 M	SNV	VUS	1 +	1
902429	CRYBB3	c.224G>A	p.Arg75His (p.R75H)	NM_004076.5 M	SNV	VUS	1 +	1
1595230	CRYBB3	c.327+13C>T	--	NM_004076.5 M	SNV	LB	1 +	1
623978	CRYBB3	c.116G>T	p.Cys39Phe (p.C39F)	NM_004076.5 M	SNV	VUS	1 +	1
1533803	CRYBB3	c.51T>C	p.His17= (p.H17=)	NM_004076.5 M	SNV	LB	1 +	1
143233	CRYBB3	c.581T>A	p.Val194Glu (p.V194E)	NM_004076.5 M	SNV	P	1 +	1
703368	CRYBB3	c.6G>A	p.Ala2= (p.A2=)	NM_004076.5 M	SNV	LB	1 +	1

55 Results, 20 per Page

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