ClinVar Miner

List of variants in gene ATRIP, ATRIP-TREX1, TREX1 studied for Aicardi-Goutieres syndrome 1

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.-60C>T rs2279076 0.00673
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466 0.00034
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_033629.6(TREX1):c.312G>C (p.Leu104=) rs56162833 0.00010
NM_033629.6(TREX1):c.651G>A (p.Arg217=) rs140199177 0.00007
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) rs761651331 0.00006
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) rs762011967 0.00004
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) rs201068640 0.00003
NM_033629.6(TREX1):c.-100C>T rs886058623 0.00002
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00002
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_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_033629.6(TREX1):c.846A>G (p.Leu282=) rs374232562 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506 0.00001
NM_033629.6(TREX1):c.-26-52C>T rs2040311705
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.137dup (p.Ser46fs) rs2107255865
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.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.243_246del (p.Ser82fs) rs2040335386
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser) rs2040342178
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) rs77371662
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) rs74876396
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) rs200510205
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala)
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) rs768724007
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) rs886058625
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
NM_033629.6(TREX1):c.554G>A (p.Arg185His) rs767157848
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
NM_033629.6(TREX1):c.581del (p.Ser194fs) rs1575293518
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys) rs1416519719
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.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) rs78379807
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) rs78948846
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) rs184953805
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del) rs2107255387
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr) rs2040380664
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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