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Gene: AIP & Disease: GIDID1, 25 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
485053	AIP	c.382C>T	p.Arg128Cys (p.R128C)	NM_003977.4 M	SNV	LB	1 +	2
	AIP	c.205C>T	p.Arg69Cys (p.R69C)	NM_001302959.2	SNV	LB	1 +	2
	AIP	c.382C>T	p.Arg128Cys (p.R128C)	NM_001302960.2	SNV	LB	1 +	2
1104093	AIP	c.787+10G>A	--	NM_003977.4 M	SNV	LB	1 +	1
41184	AIP	c.47G>A	p.Arg16His (p.R16H)	NM_003977.4 M	SNV	LB	3 +	1
253316	AIP	c.469-17T>C	--	NM_003977.4 M	SNV	LB	1 +	1
253315	AIP	c.3G>A	p.Met1Ile (p.M1I)	NM_003977.4 M	SNV	LP	1 +	1
485063	AIP	c.967C>T	p.Arg323Trp (p.R323W)	NM_003977.4 M	SNV	LB	1 +	1
823287	AIP	c.949G>T	p.Asp317Tyr (p.D317Y)	NM_003977.4 M	SNV	VUS	3 +	1
1023999	AIP	c.662C>T	p.Pro221Leu (p.P221L)	NM_003977.4 M	SNV	VUS	1 +	1
1104093	AIP	c.779+18G>A	--	NM_001302960.2	SNV	LB	1 +	1
1104093	AIP	c.610+10G>A	--	NM_001302959.2	SNV	LB	1 +	1
41184	AIP	c.47G>A	p.Arg16His (p.R16H)	NM_001302960.2	SNV	LB	3 +	1
253316	AIP	c.469-17T>C	--	NM_001302960.2	SNV	LB	1 +	1
253316	AIP	c.292-17T>C	--	NM_001302959.2	SNV	LB	1 +	1
253315	AIP	c.3G>A	p.Met1Ile (p.M1I)	NM_001302960.2	SNV	LP	1 +	1
485063	AIP	c.790C>T	p.Arg264Trp (p.R264W)	NM_001302959.2	SNV	LB	1 +	1
485063	AIP	c.*107C>T	--	NM_001302960.2	SNV	LB	1 +	1
823287	AIP	c.772G>T	p.Asp258Tyr (p.D258Y)	NM_001302959.2	SNV	VUS	3 +	1
823287	AIP	c.*89G>T	--	NM_001302960.2	SNV	VUS	3 +	1

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