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Gene: ITPR2 & Disease: ANHD, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
770228	ITPR2	c.6551C>G	p.Thr2184Ser (p.T2184S)	NM_002223.4 M	SNV	LB	1 +	2
1300046	ITPR2	c.4407A>G	p.Lys1469= (p.K1469=)	NM_002223.4 M	SNV	B	1 +	1
1300047	ITPR2	c.4239C>T	p.Asp1413= (p.D1413=)	NM_002223.4 M	SNV	B	1 +	1
1300048	ITPR2	c.3801+23G>A	--	NM_002223.4 M	SNV	B	1 +	1
1300049	ITPR2	c.2883C>T	p.His961= (p.H961=)	NM_002223.4 M	SNV	B	1 +	1
1300050	ITPR2	c.2055A>G	p.Ser685= (p.S685=)	NM_002223.4 M	SNV	B	1 +	1
1300051	ITPR2	c.765A>G	p.Glu255= (p.E255=)	NM_002223.4 M	SNV	B	1 +	1
1300052	ITPR2	c.93-10T>A	--	NM_002223.4 M	SNV	B	1 +	1
189316	ITPR2	c.7492G>A	p.Gly2498Ser (p.G2498S)	NM_002223.4 M	SNV	P	1 +	1
2579735	ITPR2	c.3655C>A	p.Leu1219Ile (p.L1219I)	NM_002223.4 M	SNV	VUS	1 +	1
	ITPR2	c.3652C>A	p.Leu1218Ile (p.L1218I)	NM_001414174.1	SNV	VUS	1 +	1
	ITPR2	c.3655C>A	p.Leu1219Ile (p.L1219I)	NM_001414175.1	SNV	VUS	1 +	1

12 Results, 20 per Page

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