List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome 1

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Total variants: 19

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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.667G>A (p.Ala223Thr)	rs766785968	0.00002
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)	rs755919767	0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)	rs760838030	0.00001
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	rs969498121
NM_007248.3(TREX1):c.1033_1050del	rs1575295176
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)	rs1354160835
NM_033629.6(TREX1):c.143_144del (p.Pro48fs)	rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs)	rs748914604
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)	rs777034646
NM_033629.6(TREX1):c.23dup (p.Pro10fs)	rs781731683
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn)	rs781051771
NM_033629.6(TREX1):c.397del (p.Leu133fs)	rs78762691
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala)
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del)	rs2107255387
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303

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