List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported as likely pathogenic for Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_033629.6(TREX1):c.290G>A (p.Arg97His)	rs200773268	0.00004
NM_033629.6(TREX1):c.500del (p.Ser167fs)	rs76642637	0.00003
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)	rs766785968	0.00002
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)	rs760838030	0.00001
NM_033629.6(TREX1):c.144dup (p.Thr49fs)	rs748914604
NM_033629.6(TREX1):c.152_153del (p.Gln51fs)	rs773808155
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)	rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs)	rs781731683
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)	rs2530037311
NM_033629.6(TREX1):c.294dup (p.Cys99fs)	rs760594164
NM_033629.6(TREX1):c.375dup (p.Gly126fs)	rs1575292873
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)	rs74556809
NM_033629.6(TREX1):c.703del (p.Val235fs)	rs1553820434

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