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Gene: POLR2A & Disease: NEDHIB, 53 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1806337	POLR2A	c.5672C>T	p.Thr1891Ile (p.T1891I)	NM_000937.5 M	SNV	VUS	1 +	1
873138	POLR2A	c.3752A>G	p.Asn1251Ser (p.N1251S)	NM_000937.5 M	SNV	P	1 +	1
2499612	POLR2A	c.2543T>C	p.Ile848Thr (p.I848T)	NM_000937.5 M	SNV	LP	1 +	1
1708063	POLR2A	c.778G>A	p.Val260Met (p.V260M)	NM_000937.5 M	SNV	LP	1 +	1
1709615	POLR2A	c.2928+5G>A	--	NM_000937.5 M	SNV	VUS	1 +	1
1027643	POLR2A	c.3773G>A	p.Arg1258His (p.R1258H)	NM_000937.5 M	SNV	VUS	1 +	1
997951	POLR2A	c.1943C>A	p.Ser648Ter (p.S648X)	NM_000937.5 M	SNV	LP	1 +	1
2435157	POLR2A	c.3813+3A>G	--	NM_000937.5 M	SNV	VUS	1 +	1
2435158	POLR2A	c.3392C>G	p.Ser1131Cys (p.S1131C)	NM_000937.5 M	SNV	VUS	1 +	1
2435156	POLR2A	c.69C>G	p.Phe23Leu (p.F23L)	NM_000937.5 M	SNV	VUS	1 +	1
1527974	POLR2A	c.3749A>G	p.Asp1250Gly (p.D1250G)	NM_000937.5 M	SNV	VUS	1 +	1
873136	POLR2A	c.3281C>T	p.Ser1094Phe (p.S1094F)	NM_000937.5 M	SNV	LP	1 +	1
873141	POLR2A	c.83C>G	p.Pro28Arg (p.P28R)	NM_000937.5 M	SNV	LP	1 +	1
873142	POLR2A	c.323G>A	p.Arg108His (p.R108H)	NM_000937.5 M	SNV	LP	1 +	1
1064637	POLR2A	c.3373_3375del	p.Lys1125Del (p.K1125del)	NM_000937.5 M	Del	LP	1 +	1
873143	POLR2A	c.418C>T	p.Arg140Trp (p.R140W)	NM_000937.5 M	SNV	LP	1 +	1
1320165	POLR2A	c.1357_1360dup	p.Asp454fs (p.D454fs)	NM_000937.5 M	Dup	LP	1 +	1
982794	POLR2A	c.5428C>T	p.Arg1810Ter (p.R1810X)	NM_000937.5 M	SNV	P	1 +	1
1030924	POLR2A	c.2689G>A	p.Ala897Thr (p.A897T)	NM_000937.5 M	SNV	VUS	1 +	1
1343251	POLR2A	c.1379G>A	p.Arg460Gln (p.R460Q)	NM_000937.5 M	SNV	LP	1 +	1

53 Results, 20 per Page

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