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Gene: TUBG1 & Disease: CDCBM4, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
782914	TUBG1	c.813C>T	p.Thr271= (p.T271=)	NM_001070.5 M	SNV	LB	1 +	2
1916205	TUBG1	c.607-7C>T	--	NM_001070.5 M	SNV	LB	1 +	2
380875	TUBG1	c.1029C>G	p.Arg343= (p.R343=)	NM_001070.5 M	SNV	B	1 +	2
2430135	TUBG1	c.421A>C	p.Ile141Leu (p.I141L)	NM_001070.5 M	SNV	LP	1 +	1
1703182	TUBG1	c.725C>T	p.Thr242Ile (p.T242I)	NM_001070.5 M	SNV	LP	1 +	1
2438438	TUBG1	c.459C>T	p.Leu153= (p.L153=)	NM_001070.5 M	SNV	VUS	1 +	1
2438439	TUBG1	c.1157C>T	p.Ser386Leu (p.S386L)	NM_001070.5 M	SNV	VUS	1 +	1
65397	TUBG1	c.1160T>C	p.Leu387Pro (p.L387P)	NM_001070.5 M	SNV	P	1 +	1
65398	TUBG1	c.275A>G	p.Tyr92Cys (p.Y92C)	NM_001070.5 M	SNV	P	1 +	1
65399	TUBG1	c.991A>C	p.Thr331Pro (p.T331P)	NM_001070.5 M	SNV	P	1 +	1
452987	TUBG1	c.1022G>A	p.Arg341Gln (p.R341Q)	NM_001070.5 M	SNV	P	1 +	1
813950	TUBG1	c.618C>G	p.Asp206Glu (p.D206E)	NM_001070.5 M	SNV	VUS	1 +	1
1526152	TUBG1	c.821C>A	p.Thr274Asn (p.T274N)	NM_001070.5 M	SNV	LP	1 +	1
2571995	TUBG1	c.757C>T	p.Leu253Phe (p.L253F)	NM_001070.5 M	SNV	VUS	1 +	1
977875	TUBG1	c.925C>T	p.Arg309Ter (p.R309X)	NM_001070.5 M	SNV	LB	1 +	0

15 Results, 20 per Page

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