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Gene: POLR3A & Disease: Leukodystrophy, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
31146	POLR3A	c.2617-1G>A	--	NM_007055.4 M	SNV	P	5 +	9
1323486	POLR3A	c.2988+1G>A	--	NM_007055.4 M	SNV	P	2 +	6
988361	POLR3A	c.3655G>T	p.Gly1219Ter (p.G1219X)	NM_007055.4 M	SNV	P	2 +	6
1184052	POLR3A	c.2988+1G>T	--	NM_007055.4 M	SNV	LP	4 +	6
986804	POLR3A	c.3944_3945del	p.Val1315fs (p.V1315fs)	NM_007055.4 M	MS	P	2 +	6
235466	POLR3A	c.2617C>T	p.Arg873Ter (p.R873X)	NM_007055.4 M	SNV	P	3 +	6
1429579	POLR3A	c.3669C>A	p.Tyr1223Ter (p.Y1223X)	NM_007055.4 M	SNV	P	2 +	5
1454335	POLR3A	c.3688_3691dup	p.Asn1231delinsArgTer (p.N1231delinsArgTer)	NM_007055.4 M	Dup	P	2 +	5
1385211	POLR3A	c.1393C>T	p.Gln465Ter (p.Q465X)	NM_007055.4 M	SNV	P	4 +	5
1453734	POLR3A	c.147_148insT	p.Pro50fs (p.P50fs)	NM_007055.4 M	Ins	P	2 +	5
41245	POLR3A	c.2830G>T	p.Glu944Ter (p.E944X)	NM_007055.4 M	SNV	P	4 +	3
1030186	POLR3A	c.3733C>T	p.Arg1245Ter (p.R1245X)	NM_007055.4 M	SNV	P	4 +	1
2412669	POLR3A	c.4025-1G>A	--	NM_007055.4 M	SNV	VUS	2 +	1
2412670	POLR3A	c.3115C>T	p.Gln1039Ter (p.Q1039X)	NM_007055.4 M	SNV	P	2 +	1
2412671	POLR3A	c.2710G>T	p.Gly904Ter (p.G904X)	NM_007055.4 M	SNV	P	2 +	1

15 Results, 20 per Page

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