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Gene: POLR3A & Disease: WDRTS, 35 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
445922	POLR3A	c.1909+22G>A	--	NM_007055.4 M	SNV	P	4 +	12
31146	POLR3A	c.2617-1G>A	--	NM_007055.4 M	SNV	P	5 +	9
31149	POLR3A	c.3013C>T	p.Arg1005Cys (p.R1005C)	NM_007055.4 M	SNV	P	3 +	7
619038	POLR3A	c.3243-2A>G	--	NM_007055.4 M	SNV	P	3 +	6
549559	POLR3A	c.3337-11T>C	--	NM_007055.4 M	SNV	P	3 +	6
449556	POLR3A	c.1771-7C>G	--	NM_007055.4 M	SNV	P	3 +	6
235466	POLR3A	c.2617C>T	p.Arg873Ter (p.R873X)	NM_007055.4 M	SNV	P	3 +	6
31144	POLR3A	c.1909+18G>A	--	NM_007055.4 M	SNV	P	3 +	5
1027476	POLR3A	c.3839dupT	--	NM_007055.4 M	Dup	P	1 +	5
1027476	POLR3A	c.3839dup	p.Met1280fs (p.M1280fs)	NM_007055.4 M	Dup	P	1 +	5
617891	POLR3A	c.2005C>T	p.Arg669Ter (p.R669X)	NM_007055.4 M	SNV	P	3 +	5
617894	POLR3A	c.760C>T	p.Arg254Ter (p.R254X)	NM_007055.4 M	SNV	P	4 +	5
549564	POLR3A	c.*18C>T	--	NM_007055.4 M	SNV	P	1 +	4
432594	POLR3A	c.3337-5T>A	--	NM_007055.4 M	SNV	P	1 +	3
549565	POLR3A	c.3G>T	p.Met1Ile (p.M1I)	NM_007055.4 M	SNV	P	1 +	3
1184057	POLR3A	c.3781G>A	p.Glu1261Lys (p.E1261K)	NM_007055.4 M	SNV	P	3 +	3
549560	POLR3A	c.1048+5G>T	--	NM_007055.4 M	SNV	P	1 +	3
301068	POLR3A	c.1724A>T	p.Lys575Met (p.K575M)	NM_007055.4 M	SNV	LB	3 +	2
930459	POLR3A	c.1982A>G	p.Asn661Ser (p.N661S)	NM_007055.4 M	SNV	VUS	1 +	2
130000	POLR3A	c.1745G>T	p.Arg582Leu (p.R582L)	NM_007055.4 M	SNV	LB	3 +	2

35 Results, 20 per Page

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