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Gene: TRAIP & Disease: SCKL9, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
221232	TRAIP	c.553C>T	p.Arg185Ter (p.R185X)	NM_005879.3 M	SNV	P	1 +	2
221233	TRAIP	c.52C>T	p.Arg18Cys (p.R18C)	NM_005879.3 M	SNV	P	1 +	1
1032372	TRAIP	c.182A>G	p.Lys61Arg (p.K61R)	NM_005879.3 M	SNV	VUS	1 +	0
777775	TRAIP	c.99-9T>G	--	NM_005879.3 M	SNV	LB	1 +	0
770702	TRAIP	c.303G>A	p.Gln101= (p.Q101=)	NM_005879.3 M	SNV	LB	1 +	0
1295661	TRAIP	c.240+45G>A	--	NM_005879.3 M	SNV	B	1 +	0
2437226	TRAIP	c.868C>A	p.Arg290Ser (p.R290S)	NM_005879.3 M	SNV	VUS	1 +	0
1988898	TRAIP	c.989C>T	p.Ser330Phe (p.S330F)	NM_005879.3 M	SNV	VUS	1 +	0
587459	TRAIP	c.1306C>T	p.Arg436Cys (p.R436C)	NM_005879.3 M	SNV	VUS	1 +	0
1098863	TRAIP	c.1362A>C	p.Thr454= (p.T454=)	NM_005879.3 M	SNV	B	1 +	0

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