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Gene: DNA2 & Disease: SCKL8, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
382984	DNA2	c.295T>C	p.Leu99= (p.L99=)	NM_001080449.3 M	SNV	LB	2 +	2
559218	DNA2	c.720-4del	--	NM_001080449.3 M	Del	LB	2 +	2
516414	DNA2	c.1057+19del	--	NM_001080449.3 M	Del	B	2 +	2
381847	DNA2	c.888G>A	p.Pro296= (p.P296=)	NM_001080449.3 M	SNV	LB	2 +	2
429200	DNA2	c.2697+13del	--	NM_001080449.3 M	Del	B	2 +	2
257343	DNA2	c.2430C>G	p.Phe810Leu (p.F810L)	NM_001080449.3 M	SNV	LB	2 +	2
257346	DNA2	c.507C>A	p.Ala169= (p.A169=)	NM_001080449.3 M	SNV	B	2 +	2
385006	DNA2	c.1649A>G	p.Asn550Ser (p.N550S)	NM_001080449.3 M	SNV	LB	2 +	2
1333688	DNA2	c.916A>T	p.Asn306Tyr (p.N306Y)	NM_001080449.3 M	SNV	VUS	1 +	1
143932	DNA2	c.3114+6del	--	NM_001080449.3 M	Del	P	2 +	1
1033659	DNA2	c.2156G>T	p.Arg719Ile (p.R719I)	NM_001080449.3 M	SNV	VUS	1 +	1
1031788	DNA2	c.707T>C	p.Met236Thr (p.M236T)	NM_001080449.3 M	SNV	VUS	1 +	1

12 Results, 20 per Page

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