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Gene: STAT5B & Disease: GHISID1, 316 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
657518	STAT5B	c.1924A>C	p.Asn642His (p.N642H)	NM_012448.4 M	SNV	P	2 +	5
534583	STAT5B	c.551-5T>C	--	NM_012448.4 M	SNV	LB	3 +	2
1054841	STAT5B	c.681+3G>A	--	NM_012448.4 M	SNV	VUS	2 +	2
579749	STAT5B	c.1102dup	p.Gln368fs (p.Q368fs)	NM_012448.4 M	Dup	P	2 +	2
194861	STAT5B	c.2237+15T>C	--	NM_012448.4 M	SNV	LB	3 +	2
1046989	STAT5B	c.676C>T	p.Arg226Cys (p.R226C)	NM_012448.4 M	SNV	VUS	2 +	2
199127	STAT5B	c.1101C>A	p.Pro367= (p.P367=)	NM_012448.4 M	SNV	B	2 +	2
199128	STAT5B	c.993G>A	p.Thr331= (p.T331=)	NM_012448.4 M	SNV	LB	3 +	2
1678070	STAT5B	c.1247T>G	p.Phe416Cys (p.F416C)	NM_012448.4 M	SNV	VUS	2 +	2
660268	STAT5B	c.1084G>A	p.Val362Met (p.V362M)	NM_012448.4 M	SNV	VUS	2 +	2
955195	STAT5B	c.1666T>A	p.Ser556Thr (p.S556T)	NM_012448.4 M	SNV	VUS	3 +	2
648019	STAT5B	c.550+5G>A	--	NM_012448.4 M	SNV	VUS	2 +	2
1328004	STAT5B	c.375+17G>A	--	NM_012448.4 M	SNV	LB	3 +	2
578442	STAT5B	c.773G>A	p.Arg258Gln (p.R258Q)	NM_012448.4 M	SNV	VUS	3 +	2
840661	STAT5B	c.1102del	p.Gln368fs (p.Q368fs)	NM_012448.4 M	Del	P	2 +	2
2104324	STAT5B	c.285G>A	p.Gln95= (p.Q95=)	NM_012448.4 M	SNV	VUS	2 +	2
1662091	STAT5B	c.90G>A	p.Val30= (p.V30=)	NM_012448.4 M	SNV	LB	2 +	2
1408216	STAT5B	c.424_427del	p.Leu142fs (p.L142fs)	NM_012448.4 M	Del	P	2 +	2
992531	STAT5B	c.2353G>A	p.Ala785Thr (p.A785T)	NM_012448.4 M	SNV	VUS	3 +	2
1000937	STAT5B	c.1775+3G>A	--	NM_012448.4 M	SNV	VUS	2 +	2

316 Results, 20 per Page

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