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Gene: DOCK3 & Disease: NEDIDHA, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
547977	DOCK3	c.5020A>T	p.Met1674Leu (p.M1674L)	NM_004947.5 M	SNV	P	1 +	1
976456	DOCK3	c.3887A>G	p.Lys1296Arg (p.K1296R)	NM_004947.5 M	SNV	P	1 +	1
599268	DOCK3	c.3107_3110del	p.Tyr1036fs (p.Y1036fs)	NM_004947.5 M	Del	P	2 +	1
976457	DOCK3	c.1175G>A	p.Arg392Gln (p.R392Q)	NM_004947.5 M	SNV	P	1 +	1
599269	DOCK3	c.1038-2A>G	--	NM_004947.5 M	SNV	P	2 +	1
520862	DOCK3	c.382C>T	p.Gln128Ter (p.Q128X)	NM_004947.5 M	SNV	P	1 +	1
983119	DOCK3	c.3740T>C	p.Met1247Thr (p.M1247T)	NM_004947.5 M	SNV	VUS	1 +	0
1028828	DOCK3	c.3637G>A	p.Glu1213Lys (p.E1213K)	NM_004947.5 M	SNV	VUS	1 +	0
1028827	DOCK3	c.2249G>T	p.Gly750Val (p.G750V)	NM_004947.5 M	SNV	VUS	1 +	0
2573088	DOCK3	c.2221C>T	p.Arg741Trp (p.R741W)	NM_004947.5 M	SNV	VUS	1 +	0
2440984	DOCK3	c.1868T>C	p.Met623Thr (p.M623T)	NM_004947.5 M	SNV	VUS	1 +	0
1325500	DOCK3	c.2002G>A	p.Val668Met (p.V668M)	NM_004947.5 M	SNV	VUS	1 +	0
1028826	DOCK3	c.1394G>C	p.Gly465Ala (p.G465A)	NM_004947.5 M	SNV	VUS	1 +	0
1251093	DOCK3	c.1918-3T>C	--	NM_004947.5 M	SNV	B	1 +	0
2441946	DOCK3	c.442G>A	p.Val148Met (p.V148M)	NM_004947.5 M	SNV	VUS	1 +	0

15 Results, 20 per Page

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