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Gene: DNAJC21 & Disease: SDS1, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
222066	DNAJC21	c.983+1G>A	--	NM_001012339.3 M	SNV	P	3 +	4
	DNAJC21	c.983+1G>A	--	NM_001348420.2	SNV	P	3 +	4
	DNAJC21	c.983+1G>A	--	NM_194283.4	SNV	P	3 +	4
1336969	DNAJC21	c.1186-531G>A	--	NM_001012339.3 M	SNV	VUS	2 +	0
1174703	DNAJC21	c.1016G>A	p.Arg339Gln (p.R339Q)	NM_001012339.3 M	SNV	VUS	2 +	0
721326	DNAJC21	c.821G>A	p.Arg274Gln (p.R274Q)	NM_001012339.3 M	SNV	LB	2 +	0
1303476	DNAJC21	c.1368del	p.Lys456fs (p.K456fs)	NM_001012339.3 M	Del	VUS	2 +	0
1336969	DNAJC21	c.1282G>A	p.Glu428Lys (p.E428K)	NM_194283.4	SNV	VUS	2 +	0
1336969	DNAJC21	c.1225-531G>A	--	NM_001348420.2	SNV	VUS	2 +	0
1174703	DNAJC21	c.1016G>A	p.Arg339Gln (p.R339Q)	NM_001348420.2	SNV	VUS	2 +	0
1174703	DNAJC21	c.1016G>A	p.Arg339Gln (p.R339Q)	NM_194283.4	SNV	VUS	2 +	0
721326	DNAJC21	c.821G>A	p.Arg274Gln (p.R274Q)	NM_001348420.2	SNV	LB	2 +	0
721326	DNAJC21	c.821G>A	p.Arg274Gln (p.R274Q)	NM_194283.4	SNV	LB	2 +	0
1303476	DNAJC21	c.1407del	p.Lys469fs (p.K469fs)	NM_001348420.2	Del	VUS	2 +	0
1303476	DNAJC21	c.1503del	p.Lys501fs (p.K501fs)	NM_194283.4	Del	VUS	2 +	0

15 Results, 20 per Page

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