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Gene: IDH3B & Disease: RP, 143 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
632372	IDH3B	c.768+1G>T	--	NM_006899.5 M	SNV	VUS	2 +	2
338028	IDH3B	c.118-3G>C	--	NM_006899.5 M	SNV	B	3 +	2
632372	IDH3B	c.768+1G>T	--	NM_174855.4	SNV	VUS	2 +	2
	IDH3B	c.768+1G>T	--	NM_001330763.2	SNV	VUS	2 +	2
	IDH3B	c.768+1G>T	--	NM_001258384.3	SNV	VUS	2 +	2
338028	IDH3B	c.118-3G>C	--	NM_001258384.3	SNV	B	3 +	2
	IDH3B	c.118-3G>C	--	NM_174855.4	SNV	B	3 +	2
	IDH3B	c.118-3G>C	--	NM_001330763.2	SNV	B	3 +	2
896023	IDH3B	c.1010+8A>G	--	NM_006899.5 M	SNV	B	2 +	1
897617	IDH3B	c.900C>T	p.Tyr300= (p.Y300=)	NM_006899.5 M	SNV	LB	2 +	1
338011	IDH3B	c.1132G>A	p.Gly378Ser (p.G378S)	NM_006899.5 M	SNV	LB	2 +	1
338015	IDH3B	c.1047G>A	p.Val349= (p.V349=)	NM_006899.5 M	SNV	LB	2 +	1
338016	IDH3B	c.1014T>C	p.Leu338= (p.L338=)	NM_006899.5 M	SNV	LB	2 +	1
338019	IDH3B	c.916-10C>T	--	NM_006899.5 M	SNV	LB	2 +	1
338020	IDH3B	c.830T>C	p.Ile277Thr (p.I277T)	NM_006899.5 M	SNV	VUS	2 +	1
338021	IDH3B	c.684G>A	p.Leu228= (p.L228=)	NM_006899.5 M	SNV	LB	2 +	1
338022	IDH3B	c.624G>C	p.Lys208Asn (p.K208N)	NM_006899.5 M	SNV	VUS	2 +	1
338025	IDH3B	c.399-12G>T	--	NM_006899.5 M	SNV	LB	2 +	1
338026	IDH3B	c.252C>T	p.His84= (p.H84=)	NM_006899.5 M	SNV	LB	2 +	1
338027	IDH3B	c.161T>C	p.Leu54Pro (p.L54P)	NM_006899.5 M	SNV	VUS	2 +	1

143 Results, 20 per Page

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