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Gene: CRYBB1 & Disease: CTRCT17, 54 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1301630	CRYBB1	c.155C>A	p.Ala52Glu (p.A52E)	NM_001887.4 M	SNV	LB	1 +	2
419532	CRYBB1	c.171del	p.Asn58fs (p.N58fs)	NM_001887.4 M	Del	P	1 +	2
419532	CRYBB1	c.171delG	--	NM_001887.4 M	Del	P	1 +	2
468743	CRYBB1	c.432+5G>C	--	NM_001887.4 M	SNV	VUS	1 +	2
1899847	CRYBB1	c.697C>T	p.Arg233Cys (p.R233C)	NM_001887.4 M	SNV	VUS	1 +	2
2118150	CRYBB1	c.305T>C	p.Val102Ala (p.V102A)	NM_001887.4 M	SNV	VUS	1 +	1
798218	CRYBB1	c.179G>C	p.Arg60Thr (p.R60T)	NM_001887.4 M	SNV	B	1 +	1
574493	CRYBB1	c.585del	p.Tyr196fs (p.Y196fs)	NM_001887.4 M	Del	P	1 +	1
902685	CRYBB1	c.292G>A	p.Ala98Thr (p.A98T)	NM_001887.4 M	SNV	VUS	1 +	1
902688	CRYBB1	c.74G>A	p.Gly25Glu (p.G25E)	NM_001887.4 M	SNV	LB	1 +	1
1321512	CRYBB1	c.399T>C	p.Ser133= (p.S133=)	NM_001887.4 M	SNV	LB	1 +	1
2154537	CRYBB1	c.640C>T	p.Arg214Trp (p.R214W)	NM_001887.4 M	SNV	VUS	1 +	1
341042	CRYBB1	c.744A>G	p.Thr248= (p.T248=)	NM_001887.4 M	SNV	LB	1 +	1
341047	CRYBB1	c.384G>A	p.Ser128= (p.S128=)	NM_001887.4 M	SNV	LB	1 +	1
1679950	CRYBB1	c.419G>C	p.Arg140Pro (p.R140P)	NM_001887.4 M	SNV	LP	1 +	1
1372249	CRYBB1	c.358G>A	p.Glu120Lys (p.E120K)	NM_001887.4 M	SNV	VUS	1 +	1
1450099	CRYBB1	c.394C>T	p.Arg132Cys (p.R132C)	NM_001887.4 M	SNV	VUS	1 +	1
901236	CRYBB1	c.432+15G>A	--	NM_001887.4 M	SNV	LB	1 +	1
1283282	CRYBB1	c.299+16C>A	--	NM_001887.4 M	SNV	B	1 +	1
427748	CRYBB1	c.757T>C	p.Ter253Arg (p.X253R)	NM_001887.4 M	SNV	P	1 +	1

54 Results, 20 per Page

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