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Gene: GATA1 & Disease: XLANP, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
10428	GATA1	c.647G>A	p.Arg216Gln (p.R216Q)	NM_002049.4 M	SNV	P	5 +	8
156266	GATA1	c.220G>C	p.Val74Leu (p.V74L)	NM_002049.4 M	SNV	P	5 +	5
156265	GATA1	c.2T>C	p.Met1Thr (p.M1T)	NM_002049.4 M	SNV	P	5 +	5
31942	GATA1	c.220+1del	--	NM_002049.4 M	Del	P	5 +	5
952388	GATA1	c.35C>G	p.Ser12Ter (p.S12X)	NM_002049.4 M	SNV	P	6 +	4
1429222	GATA1	c.893G>A	p.Arg298Gln (p.R298Q)	NM_002049.4 M	SNV	VUS	6 +	2
465135	GATA1	c.94G>A	p.Val32Ile (p.V32I)	NM_002049.4 M	SNV	B	6 +	2
1563494	GATA1	c.599-9C>T	--	NM_002049.4 M	SNV	LB	6 +	2
945514	GATA1	c.944A>G	p.Lys315Arg (p.K315R)	NM_002049.4 M	SNV	VUS	6 +	2
258542	GATA1	c.174G>A	p.Ala58= (p.A58=)	NM_002049.4 M	SNV	LB	6 +	2

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