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Mutation Direct

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Gene: DNASE1L3 & Disease: SLEB16, 85 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1172533	DNASE1L3	c.290_291del	p.Thr97fs (p.T97fs)	NM_004944.4 M	MS	P	1 +	5
1172533	DNASE1L3	c.231-620_231-619del	--	NM_001256560.2	MS	P	1 +	5
30256	DNASE1L3	c.643delT	--	NM_004944.4 M	Del	P	1 +	3
	DNASE1L3	c.643del	p.Trp215fs (p.W215fs)	NM_004944.4 M	Del	P	1 +	3
	DNASE1L3	c.553del	p.Trp185fs (p.W185fs)	NM_001256560.2	Del	P	1 +	3
1424051	DNASE1L3	c.437T>C	p.Val146Ala (p.V146A)	NM_004944.4 M	SNV	VUS	1 +	2
1518065	DNASE1L3	c.729C>G	p.Ile243Met (p.I243M)	NM_004944.4 M	SNV	VUS	1 +	2
1424051	DNASE1L3	c.347T>C	p.Val116Ala (p.V116A)	NM_001256560.2	SNV	VUS	1 +	2
1518065	DNASE1L3	c.639C>G	p.Ile213Met (p.I213M)	NM_001256560.2	SNV	VUS	1 +	2
1442402	DNASE1L3	c.112G>C	p.Asp38His (p.D38H)	NM_004944.4 M	SNV	VUS	1 +	1
1429970	DNASE1L3	c.274C>T	p.Arg92Trp (p.R92W)	NM_004944.4 M	SNV	VUS	1 +	1
1404334	DNASE1L3	c.448G>A	p.Val150Met (p.V150M)	NM_004944.4 M	SNV	VUS	1 +	1
1485490	DNASE1L3	c.671C>T	p.Thr224Met (p.T224M)	NM_004944.4 M	SNV	VUS	1 +	1
1484433	DNASE1L3	c.803C>G	p.Ala268Gly (p.A268G)	NM_004944.4 M	SNV	VUS	1 +	1
1355726	DNASE1L3	c.854G>A	p.Arg285Lys (p.R285K)	NM_004944.4 M	SNV	VUS	1 +	1
1442402	DNASE1L3	c.112G>C	p.Asp38His (p.D38H)	NM_001256560.2	SNV	VUS	1 +	1
1429970	DNASE1L3	c.231-636C>T	--	NM_001256560.2	SNV	VUS	1 +	1
1404334	DNASE1L3	c.358G>A	p.Val120Met (p.V120M)	NM_001256560.2	SNV	VUS	1 +	1
1485490	DNASE1L3	c.581C>T	p.Thr194Met (p.T194M)	NM_001256560.2	SNV	VUS	1 +	1
1484433	DNASE1L3	c.713C>G	p.Ala238Gly (p.A238G)	NM_001256560.2	SNV	VUS	1 +	1

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