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Gene: LIG3 & Disease: MTDPS20, 18 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1699182	LIG3	c.2653_2654del	p.Leu884_Ser885insTer	NM_013975.4 M	Del	LP	1 +	1
1343935	LIG3	c.1611G>C	p.Lys537Asn (p.K537N)	NM_013975.4 M	SNV	P	1 +	1
1343936	LIG3	c.2890G>C	p.Gly964Arg (p.G964R)	NM_013975.4 M	SNV	P	1 +	1
1343937	LIG3	c.2996G>A	p.Cys999Tyr (p.C999Y)	NM_013975.4 M	SNV	P	1 +	1
1343938	LIG3	c.799C>T	p.Arg267Ter (p.R267X)	NM_013975.4 M	SNV	P	1 +	1
1343939	LIG3	c.1826C>T	p.Pro609Leu (p.P609L)	NM_013975.4 M	SNV	P	1 +	1
1343940	LIG3	c.2431C>T	p.Arg811Ter (p.R811X)	NM_013975.4 M	SNV	P	1 +	1
1343941	LIG3	c.1611+209G>A	--	NM_013975.4 M	SNV	P	1 +	1
1343942	LIG3	c.86G>A	p.Trp29Ter (p.W29X)	NM_013975.4 M	SNV	P	1 +	1
2584977	LIG3	c.967G>A	p.Asp323Asn (p.D323N)	NM_013975.4 M	SNV	VUS	1 +	1
1699182	LIG3	c.2653_2654del	p.Leu884_Ser885insTer	NM_002311.5	Del	LP	1 +	1
1343935	LIG3	c.1611G>C	p.Lys537Asn (p.K537N)	NM_002311.5	SNV	P	1 +	1
1343938	LIG3	c.799C>T	p.Arg267Ter (p.R267X)	NM_002311.5	SNV	P	1 +	1
1343939	LIG3	c.1826C>T	p.Pro609Leu (p.P609L)	NM_002311.5	SNV	P	1 +	1
1343940	LIG3	c.2431C>T	p.Arg811Ter (p.R811X)	NM_002311.5	SNV	P	1 +	1
1343941	LIG3	c.1611+209G>A	--	NM_002311.5	SNV	P	1 +	1
1343942	LIG3	c.86G>A	p.Trp29Ter (p.W29X)	NM_002311.5	SNV	P	1 +	1
2584977	LIG3	c.967G>A	p.Asp323Asn (p.D323N)	NM_002311.5	SNV	VUS	1 +	1

18 Results, 20 per Page

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