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Gene: AKT3 & Disease: BBS16, 58 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2106170	AKT3	c.*5494C>A	--	NM_005465.7 M	SNV	VUS	2 +	2
	AKT3	c.1386C>A	p.Asn462Lys (p.N462K)	NM_001206729.2	SNV	VUS	2 +	2
	AKT3	c.*5494C>A	--	NM_001370074.1	SNV	VUS	2 +	2
	AKT3	c.1386C>A	p.Asn462Lys (p.N462K)	NM_181690.2	SNV	VUS	2 +	2
1400165	AKT3	c.*7-561G>A	--	NM_181690.2	SNV	VUS	2 +	2
1967050	AKT3	c.*7-692A>G	--	NM_181690.2	SNV	VUS	2 +	2
853144	AKT3	c.*5484T>C	--	NM_005465.7 M	SNV	VUS	2 +	0
1413304	AKT3	c.*5482C>T	--	NM_005465.7 M	SNV	VUS	2 +	0
2086161	AKT3	c.*5503del	--	NM_005465.7 M	Del	LB	2 +	0
1360829	AKT3	c.5467_5469dup	--	NM_005465.7 M	Dup	VUS	2 +	0
296919	AKT3	c.*5315A>G	--	NM_005465.7 M	SNV	VUS	2 +	0
296918	AKT3	c.*5367C>T	--	NM_005465.7 M	SNV	LB	2 +	0
1394182	AKT3	c.*7-683C>T	--	NM_181690.2	SNV	VUS	2 +	0
2042920	AKT3	c.*7-651C>T	--	NM_181690.2	SNV	LB	2 +	0
2200129	AKT3	c.*7-686G>A	--	NM_181690.2	SNV	VUS	2 +	0
1084994	AKT3	c.*7-639A>G	--	NM_181690.2	SNV	LB	2 +	0
1337418	AKT3	c.*7-636C>T	--	NM_181690.2	SNV	LB	2 +	0
1590375	AKT3	c.*7-633G>A	--	NM_181690.2	SNV	LB	2 +	0
1015409	AKT3	c.*7-604G>C	--	NM_181690.2	SNV	VUS	2 +	0
1987699	AKT3	c.*7-606C>T	--	NM_181690.2	SNV	LB	2 +	0

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