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Mutation Direct

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Gene: ZBTB24 & Disease: ICF2, 410 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
31096	ZBTB24	c.1222T>G	p.Cys408Gly (p.C408G)	NM_014797.3 M	SNV	P	1 +	6
31097	ZBTB24	c.1369C>T	p.Arg457Ter (p.R457X)	NM_014797.3 M	SNV	P	1 +	4
1074302	ZBTB24	c.909dup	p.Lys304Ter (p.K304X)	NM_014797.3 M	Dup	P	1 +	3
2071437	ZBTB24	c.1439dup	p.His480fs (p.H480fs)	NM_014797.3 M	Dup	P	1 +	3
1074302	ZBTB24	c.909dup	p.Lys304Ter (p.K304X)	NM_001164313.2	Dup	P	1 +	3
1400338	ZBTB24	c.1204+4C>T	--	NM_014797.3 M	SNV	VUS	1 +	2
2189491	ZBTB24	c.1204+1G>C	--	NM_014797.3 M	SNV	LP	1 +	2
40181	ZBTB24	c.396_397del	p.His132fs (p.H132fs)	NM_014797.3 M	Del	P	1 +	2
940797	ZBTB24	c.952+6G>A	--	NM_014797.3 M	SNV	VUS	1 +	2
31093	ZBTB24	c.958C>T	p.Arg320Ter (p.R320X)	NM_014797.3 M	SNV	P	1 +	2
2163600	ZBTB24	c.1289-2A>T	--	NM_014797.3 M	SNV	LP	1 +	2
539534	ZBTB24	c.1750A>T	p.Met584Leu (p.M584L)	NM_014797.3 M	SNV	LB	1 +	2
40181	ZBTB24	c.396_397del	p.His132fs (p.H132fs)	NM_001164313.2	Del	P	1 +	2
940797	ZBTB24	c.958G>A	p.Asp320Asn (p.D320N)	NM_001164313.2	SNV	VUS	1 +	2
598541	ZBTB24	c.47C>G	p.Ser16Ter (p.S16X)	NM_014797.3 M	SNV	P	1 +	1
951999	ZBTB24	c.888dup	p.Lys297Ter (p.K297X)	NM_014797.3 M	Dup	P	1 +	1
1445118	ZBTB24	c.851G>A	p.Gly284Glu (p.G284E)	NM_014797.3 M	SNV	VUS	1 +	1
252685	ZBTB24	c.146G>A	p.Arg49Gln (p.R49Q)	NM_014797.3 M	SNV	B	2 +	1
778008	ZBTB24	c.619C>T	p.Leu207= (p.L207=)	NM_014797.3 M	SNV	LB	1 +	1
650017	ZBTB24	c.1192C>T	p.Arg398Ter (p.R398X)	NM_014797.3 M	SNV	P	1 +	1

410 Results, 20 per Page

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