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Gene: UMPS & Disease: Hereditary Orotic Aciduria, 184 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
523038	UMPS	c.1123G>A	p.Gly375Ser (p.G375S)	NM_000373.4 M	SNV	LP	2 +	1
342930	UMPS	c.857T>A	p.Ile286Asn (p.I286N)	NM_000373.4 M	SNV	LP	2 +	1
632395	UMPS	c.385G>T	p.Gly129Ter (p.G129X)	NM_000373.4 M	SNV	VUS	2 +	1
11907	UMPS	c.326T>G	p.Val109Gly (p.V109G)	NM_000373.4 M	SNV	P	2 +	1
342944	UMPS	c.*868del	--	NM_000373.4 M	Del	LB	2 +	0
343023	UMPS	c.*4215C>T	--	NM_000373.4 M	SNV	VUS	2 +	0
343027	UMPS	c.*4278G>A	--	NM_000373.4 M	SNV	B	2 +	0
342995	UMPS	c.*3083G>T	--	NM_000373.4 M	SNV	VUS	2 +	0
342996	UMPS	c.*3130C>T	--	NM_000373.4 M	SNV	LB	2 +	0
900211	UMPS	c.*4570C>T	--	NM_000373.4 M	SNV	VUS	2 +	0
343046	UMPS	c.*5133del	--	NM_000373.4 M	Del	VUS	2 +	0
343044	UMPS	c.*5027A>G	--	NM_000373.4 M	SNV	VUS	2 +	0
343043	UMPS	c.*5014C>T	--	NM_000373.4 M	SNV	B	2 +	0
343045	UMPS	c.5120_5124del	--	NM_000373.4 M	Del	VUS	2 +	0
343042	UMPS	c.*4906G>C	--	NM_000373.4 M	SNV	B	2 +	0
343041	UMPS	c.*4895A>G	--	NM_000373.4 M	SNV	VUS	2 +	0
901374	UMPS	c.*4934A>G	--	NM_000373.4 M	SNV	VUS	2 +	0
901922	UMPS	c.*5085C>A	--	NM_000373.4 M	SNV	VUS	2 +	0
343040	UMPS	c.*4883C>T	--	NM_000373.4 M	SNV	VUS	2 +	0
343036	UMPS	c.*4755G>A	--	NM_000373.4 M	SNV	VUS	2 +	0

184 Results, 20 per Page

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