C0796126[trait identifier] AND "Soonchunhyang University Bucheon Hospi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225498	NM_033629.6(TREX1):c.290G>A (p.Arg97His)	ATRIP, ATRIP-TREX1 +1 more (R97H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 225499	NM_033629.6(TREX1):c.294dup (p.Cys99fs)	ATRIP, ATRIP-TREX1 +1 more (C99fs +1 more)	Duplication (frameshift variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +4 more	GPathogenic/Likely pathogenic