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Mutation Direct

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Gene: AQP2 & Disease: NDI, 34 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17828	AQP2	c.559C>T	p.Arg187Cys (p.R187C)	NM_000486.6 M	SNV	P	3 +	12
17832	AQP2	c.439G>A	p.Ala147Thr (p.A147T)	NM_000486.6 M	SNV	P	3 +	6
35695	AQP2	c.560G>A	p.Arg187His (p.R187H)	NM_000486.6 M	SNV	LP	2 +	4
17830	AQP2	c.190G>A	p.Gly64Arg (p.G64R)	NM_000486.6 M	SNV	P	3 +	4
441134	AQP2	c.450T>A	p.Asp150Glu (p.D150E)	NM_000486.6 M	SNV	LP	3 +	3
285666	AQP2	c.763C>T	p.Gln255Ter (p.Q255X)	NM_000486.6 M	SNV	P	2 +	3
504917	AQP2	c.501T>C	p.Ser167= (p.S167=)	NM_000486.6 M	SNV	B	3 +	3
256241	AQP2	c.342G>A	p.Gly114= (p.G114=)	NM_000486.6 M	SNV	LB	3 +	2
256242	AQP2	c.345C>T	p.Asp115= (p.D115=)	NM_000486.6 M	SNV	LB	3 +	2
256243	AQP2	c.360+3G>A	--	NM_000486.6 M	SNV	B	3 +	2
256244	AQP2	c.39G>A	p.Val13= (p.V13=)	NM_000486.6 M	SNV	LB	3 +	2
2060682	AQP2	c.85G>A	p.Gly29Ser (p.G29S)	NM_000486.6 M	SNV	LP	2 +	2
446861	AQP2	c.277C>T	p.Gln93Ter (p.Q93X)	NM_000486.6 M	SNV	P	3 +	2
35694	AQP2	c.438C>T	p.Phe146= (p.F146=)	NM_000486.6 M	SNV	LB	3 +	2
713761	AQP2	c.204C>T	p.Asn68= (p.N68=)	NM_000486.6 M	SNV	LB	3 +	2
733227	AQP2	c.141G>A	p.Ala47= (p.A47=)	NM_000486.6 M	SNV	LB	3 +	1
763955	AQP2	c.447C>T	p.Thr149= (p.T149=)	NM_000486.6 M	SNV	LB	2 +	1
798770	AQP2	c.162C>G	p.Thr54= (p.T54=)	NM_000486.6 M	SNV	LB	2 +	1
796960	AQP2	c.768G>C	p.Ser256= (p.S256=)	NM_000486.6 M	SNV	LB	2 +	1
737819	AQP2	c.471G>A	p.Pro157= (p.P157=)	NM_000486.6 M	SNV	LB	3 +	1

34 Results, 20 per Page

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