Mutation Direct

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Gene: STAC3 & Disease: CMYP13, 552 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
425008	STAC3	c.432+4A>T	--	NM_145064.3 M	SNV	P	2 +	3
88744	STAC3	c.851G>C	p.Trp284Ser (p.W284S)	NM_145064.3 M	SNV	P	2 +	3
2074431	STAC3	c.670+2T>A	--	NM_145064.3 M	SNV	LP	2 +	3
425008	STAC3	c.-126-504A>T	--	NM_001286257.2	SNV	P	2 +	3
425008	STAC3	c.315+4A>T	--	NM_001286256.2	SNV	P	2 +	3
88744	STAC3	c.734G>C	p.Trp245Ser (p.W245S)	NM_001286256.2	SNV	P	2 +	3
88744	STAC3	c.293G>C	p.Trp98Ser (p.W98S)	NM_001286257.2	SNV	P	2 +	3
2074431	STAC3	c.112+2T>A	--	NM_001286257.2	SNV	LP	2 +	3
2074431	STAC3	c.553+2T>A	--	NM_001286256.2	SNV	LP	2 +	3
1059868	STAC3	c.670+3del	--	NM_145064.3 M	Del	VUS	2 +	2
1010716	STAC3	c.996+1G>A	--	NM_145064.3 M	SNV	VUS	2 +	2
2176045	STAC3	c.670G>A	p.Gly224Arg (p.G224R)	NM_145064.3 M	SNV	VUS	2 +	2
425007	STAC3	c.862A>T	p.Lys288Ter (p.K288X)	NM_145064.3 M	SNV	P	2 +	2
1073206	STAC3	c.694del	p.Ala232fs (p.A232fs)	NM_145064.3 M	Del	P	2 +	2
839245	STAC3	c.517C>T	p.Arg173Cys (p.R173C)	NM_145064.3 M	SNV	VUS	2 +	2
534098	STAC3	c.195GGAAGA[2]	p.Glu75_Glu76del	NM_145064.3 M	MS	VUS	2 +	2
534100	STAC3	c.221A>G	p.Glu74Gly (p.E74G)	NM_145064.3 M	SNV	VUS	2 +	2
1481810	STAC3	c.720+6A>G	--	NM_145064.3 M	SNV	VUS	2 +	2
1479778	STAC3	c.505+6T>G	--	NM_145064.3 M	SNV	VUS	2 +	2
577652	STAC3	c.739C>T	p.Gln247Ter (p.Q247X)	NM_145064.3 M	SNV	P	2 +	2

552 Results, 20 per Page

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