List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported as pathogenic for Aicardi-Goutieres syndrome 1

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_033629.6(TREX1):c.341G>A (p.Arg114His)	rs72556554	0.00030
NM_033629.6(TREX1):c.290G>A (p.Arg97His)	rs200773268	0.00003
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)	rs78218009	0.00001
NM_033629.6(TREX1):c.137dup (p.Ser46fs)	rs2107255865
NM_033629.6(TREX1):c.144dup (p.Thr49fs)	rs748914604
NM_033629.6(TREX1):c.212_213del (p.Val71fs)	rs74689946
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)	rs1331920811
NM_033629.6(TREX1):c.243_246del (p.Ser82fs)	rs2040335386
NM_033629.6(TREX1):c.294dup (p.Cys99fs)	rs760594164
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter)	rs768724007
NM_033629.6(TREX1):c.581del (p.Ser194fs)	rs1575293518
NM_033629.6(TREX1):c.58dup (p.Glu20fs)	rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)	rs78846775
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)	rs74556809
NM_033629.6(TREX1):c.602T>A (p.Val201Asp)	rs78408272
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter)	rs184953805
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303

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