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Gene: LRBA & Disease: Combined Immunodeficiency Due to Lrba Deficiency, 6263 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
962138	LRBA	c.8469-1G>C	--	NM_001364905.1 M	SNV	VUS	2 +	4
1176175	LRBA	c.7009C>T	p.Arg2337Ter (p.R2337X)	NM_001364905.1 M	SNV	P	2 +	4
973645	LRBA	c.1963C>T	p.Arg655Ter (p.R655X)	NM_001364905.1 M	SNV	P	2 +	4
1458881	LRBA	c.2836_2839del	p.Glu945_Glu946insTer	NM_001364905.1 M	Del	P	2 +	4
962138	LRBA	c.8484-1G>C	--	NM_001367550.1	SNV	VUS	2 +	4
	LRBA	c.8502-1G>C	--	NM_006726.4	SNV	VUS	2 +	4
	LRBA	c.8466-1G>C	--	NM_001199282.2	SNV	VUS	2 +	4
1176175	LRBA	c.7009C>T	p.Arg2337Ter (p.R2337X)	NM_001199282.2	SNV	P	2 +	4
	LRBA	c.7009C>T	p.Arg2337Ter (p.R2337X)	NM_001367550.1	SNV	P	2 +	4
	LRBA	c.7042C>T	p.Arg2348Ter (p.R2348X)	NM_006726.4	SNV	P	2 +	4
973645	LRBA	c.1963C>T	p.Arg655Ter (p.R655X)	NM_001199282.2	SNV	P	2 +	4
	LRBA	c.1963C>T	p.Arg655Ter (p.R655X)	NM_001367550.1	SNV	P	2 +	4
	LRBA	c.1963C>T	p.Arg655Ter (p.R655X)	NM_006726.4	SNV	P	2 +	4
1458881	LRBA	c.2836_2839del	p.Glu945_Glu946insTer	NM_001199282.2	Del	P	2 +	4
	LRBA	c.2836_2839del	p.Glu945_Glu946insTer	NM_001367550.1	Del	P	2 +	4
	LRBA	c.2836_2839del	p.Glu945_Glu946insTer	NM_006726.4	Del	P	2 +	4
1461075	LRBA	c.6046+1889T>C	--	NM_001364905.1 M	SNV	VUS	2 +	3
2116579	LRBA	c.216+1G>C	--	NM_001364905.1 M	SNV	LP	2 +	3
2018537	LRBA	c.7363-1G>T	--	NM_001364905.1 M	SNV	LP	2 +	3
618200	LRBA	c.3914G>A	p.Arg1305His (p.R1305H)	NM_001364905.1 M	SNV	VUS	2 +	3

共6263个结果, 每页展示20条

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