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Gene: P2RX2 & Disease: DFNA41, 112 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
504852	P2RX2	c.381+2T>C	--	NM_170682.4 M	SNV	LB	1 +	3
226980	P2RX2	c.1325_1335del	p.Ile441_Ser442insTer	NM_170682.4 M	Del	LB	1 +	3
226984	P2RX2	c.468T>C	p.Thr156= (p.T156=)	NM_170682.4 M	SNV	B	1 +	3
226986	P2RX2	c.636-13G>A	--	NM_170682.4 M	SNV	B	1 +	3
504852	P2RX2	c.381+2T>C	--	NM_001282165.2	SNV	LB	1 +	3
	P2RX2	c.381+2T>C	--	NM_170683.4	SNV	LB	1 +	3
	P2RX2	c.381+2T>C	--	NM_174873.3	SNV	LB	1 +	3
	P2RX2	c.310-92T>C	--	NM_016318.4	SNV	LB	1 +	3
	P2RX2	c.310-92T>C	--	NM_001282164.2	SNV	LB	1 +	3
	P2RX2	c.241+178T>C	--	NM_012226.5	SNV	LB	1 +	3
	P2RX2	c.106-92T>C	--	NM_174872.3	SNV	LB	1 +	3
226980	P2RX2	c.372_382del	--	NM_001282165.2	Del	LB	1 +	3
	P2RX2	c.1109_1119del	p.Ile369_Ser370insTer	NM_012226.5	Del	LB	1 +	3
	P2RX2	c.1253_1263del	p.Ile417_Ser418insTer	NM_016318.4	Del	LB	1 +	3
	P2RX2	c.1403_1413del	p.Ile467_Ser468insTer	NM_170683.4	Del	LB	1 +	3
	P2RX2	c.1049_1059del	p.Ile349_Ser350insTer	NM_174872.3	Del	LB	1 +	3
	P2RX2	c.1141-17_1141-7del	--	NM_174873.3	Del	LB	1 +	3
	P2RX2	c.1039-17_1039-7del	--	NM_001282164.2	Del	LB	1 +	3
226984	P2RX2	c.468T>C	p.Thr156= (p.T156=)	NM_001282165.2	SNV	B	1 +	3
226984	P2RX2	c.252T>C	p.Thr84= (p.T84=)	NM_012226.5	SNV	B	1 +	3

112 Results, 20 per Page

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