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Gene: AVPR2 & Disease: X-Linked Nephrogenic Diabetes Insipidus, 206 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
10849	AVPR2	c.410G>A	p.Arg137His (p.R137H)	NM_000054.7 M	SNV	P	4 +	27
10849	AVPR2	c.410G>A	p.Arg137His (p.R137H)	NM_001146151.3	SNV	P	4 +	27
10838	AVPR2	c.614A>G	p.Tyr205Cys (p.Y205C)	NM_000054.7 M	SNV	P	3 +	16
10838	AVPR2	c.614A>G	p.Tyr205Cys (p.Y205C)	NM_001146151.3	SNV	P	3 +	16
10840	AVPR2	c.337C>T	p.Arg113Trp (p.R113W)	NM_000054.7 M	SNV	P	2 +	10
254773	AVPR2	c.35G>A	p.Gly12Glu (p.G12E)	NM_000054.7 M	SNV	LB	2 +	10
10840	AVPR2	c.337C>T	p.Arg113Trp (p.R113W)	NM_001146151.3	SNV	P	2 +	10
254773	AVPR2	c.35G>A	p.Gly12Glu (p.G12E)	NM_001146151.3	SNV	LB	2 +	10
585474	AVPR2	c.383A>C	p.Tyr128Ser (p.Y128S)	NM_000054.7 M	SNV	P	3 +	8
35737	AVPR2	c.176T>C	p.Leu59Pro (p.L59P)	NM_000054.7 M	SNV	LP	2 +	8
585474	AVPR2	c.383A>C	p.Tyr128Ser (p.Y128S)	NM_001146151.3	SNV	P	3 +	8
35737	AVPR2	c.176T>C	p.Leu59Pro (p.L59P)	NM_001146151.3	SNV	LP	2 +	8
10843	AVPR2	c.839A>G	p.Tyr280Cys (p.Y280C)	NM_000054.7 M	SNV	P	2 +	6
10844	AVPR2	c.1009C>T	p.Arg337Ter (p.R337X)	NM_000054.7 M	SNV	P	2 +	6
10850	AVPR2	c.541C>T	p.Arg181Cys (p.R181C)	NM_000054.7 M	SNV	P	2 +	6
10843	AVPR2	c.839A>G	p.Tyr280Cys (p.Y280C)	NM_001146151.3	SNV	P	2 +	6
10844	AVPR2	c.*185C>T	--	NM_001146151.3	SNV	P	2 +	6
10850	AVPR2	c.541C>T	p.Arg181Cys (p.R181C)	NM_001146151.3	SNV	P	2 +	6
35748	AVPR2	c.853G>C	p.Ala285Pro (p.A285P)	NM_000054.7 M	SNV	LP	2 +	5
35748	AVPR2	c.853G>C	p.Ala285Pro (p.A285P)	NM_001146151.3	SNV	LP	2 +	5

206 Results, 20 per Page

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