ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_130384.3(ATRIP):c.*722C>T rs2279076 0.00673
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) rs72556555 0.00073
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.339G>A (p.Arg113=) rs56400532 0.00025
NM_033629.6(TREX1):c.312G>C (p.Leu104=) rs56162833 0.00010
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913 0.00009
NM_033629.6(TREX1):c.486G>A (p.Leu162=) rs55786737 0.00008
NM_033629.6(TREX1):c.651G>A (p.Arg217=) rs140199177 0.00007
NM_033629.6(TREX1):c.168A>T (p.Thr56=) rs770441459 0.00006
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418 0.00006
NM_033629.6(TREX1):c.24G>A (p.Pro8=) rs147463121 0.00005
NM_033629.6(TREX1):c.387C>T (p.Tyr129=) rs202025490 0.00005
NM_033629.6(TREX1):c.513C>T (p.His171=) rs531660451 0.00005
NM_033629.6(TREX1):c.471T>G (p.Thr157=) rs751022472 0.00004
NM_033629.6(TREX1):c.303T>C (p.Asp101=) rs140833802 0.00002
NM_033629.6(TREX1):c.555C>T (p.Arg185=) rs755796904 0.00002
NM_033629.6(TREX1):c.813G>A (p.Lys271=) rs780078867 0.00002
NM_033629.6(TREX1):c.894C>T (p.Thr298=) rs764559601 0.00002
NM_033629.6(TREX1):c.138C>T (p.Ser46=) rs895463771 0.00001
NM_033629.6(TREX1):c.282G>A (p.Ala94=) rs374854957 0.00001
NM_033629.6(TREX1):c.294A>G (p.Gln98=) rs2040339926 0.00001
NM_033629.6(TREX1):c.417T>C (p.Ala139=) rs561010257 0.00001
NM_033629.6(TREX1):c.429C>T (p.Leu143=) rs1300401892 0.00001
NM_033629.6(TREX1):c.459G>A (p.Val153=) rs901216260 0.00001
NM_033629.6(TREX1):c.474G>A (p.Ala158=) rs373876183 0.00001
NM_033629.6(TREX1):c.477G>A (p.Leu159=) rs376018168 0.00001
NM_033629.6(TREX1):c.501C>T (p.Ser167=) rs149789575 0.00001
NM_033629.6(TREX1):c.522G>A (p.Arg174=) rs1310282311 0.00001
NM_033629.6(TREX1):c.543C>T (p.Ser181=) rs948439253 0.00001
NM_033629.6(TREX1):c.582G>A (p.Ser194=) rs747560892 0.00001
NM_033629.6(TREX1):c.588G>A (p.Thr196=) rs781221615 0.00001
NM_033629.6(TREX1):c.627G>A (p.Gln209=) rs748970378 0.00001
NM_033629.6(TREX1):c.690G>A (p.Arg230=) rs55691060 0.00001
NM_033629.6(TREX1):c.81C>G (p.Ser27=) rs1308074815 0.00001
NM_033629.6(TREX1):c.828G>A (p.Val276=) rs149654159 0.00001
NM_033629.6(TREX1):c.846A>G (p.Leu282=) rs374232562 0.00001
NM_033629.6(TREX1):c.885C>T (p.Ala295=) rs775937744 0.00001
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506 0.00001
NM_033629.6(TREX1):c.102G>A (p.Leu34=)
NM_033629.6(TREX1):c.132G>C (p.Leu44=) rs2107255846
NM_033629.6(TREX1):c.144C>A (p.Pro48=) rs781060789
NM_033629.6(TREX1):c.144C>G (p.Pro48=) rs781060789
NM_033629.6(TREX1):c.144C>T (p.Pro48=) rs781060789
NM_033629.6(TREX1):c.15C>T (p.Ala5=)
NM_033629.6(TREX1):c.165C>T (p.Pro55=)
NM_033629.6(TREX1):c.168A>C (p.Thr56=) rs770441459
NM_033629.6(TREX1):c.18G>C (p.Leu6=)
NM_033629.6(TREX1):c.192A>C (p.Val64=) rs2107256574
NM_033629.6(TREX1):c.207G>T (p.Leu69=)
NM_033629.6(TREX1):c.213G>A (p.Val71=)
NM_033629.6(TREX1):c.216T>A (p.Ala72=)
NM_033629.6(TREX1):c.21C>A (p.Pro7=)
NM_033629.6(TREX1):c.21C>T (p.Pro7=) rs761094995
NM_033629.6(TREX1):c.246C>T (p.Ser82=)
NM_033629.6(TREX1):c.249G>A (p.Glu83=)
NM_033629.6(TREX1):c.258T>C (p.Gly86=)
NM_033629.6(TREX1):c.27G>T (p.Gly9=) rs908382062
NM_033629.6(TREX1):c.306C>T (p.Asp102=)
NM_033629.6(TREX1):c.30C>G (p.Pro10=)
NM_033629.6(TREX1):c.30C>T (p.Pro10=) rs560658691
NM_033629.6(TREX1):c.321G>A (p.Leu107=) rs771553021
NM_033629.6(TREX1):c.324C>T (p.Leu108=)
NM_033629.6(TREX1):c.334C>T (p.Leu112=)
NM_033629.6(TREX1):c.360C>T (p.Cys120=) rs1436644080
NM_033629.6(TREX1):c.369A>G (p.Ala123=)
NM_033629.6(TREX1):c.375T>C (p.Asn125=)
NM_033629.6(TREX1):c.378T>C (p.Gly126=)
NM_033629.6(TREX1):c.393C>T (p.Phe131=) rs749667732
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) rs200510205
NM_033629.6(TREX1):c.405A>G (p.Gln135=)
NM_033629.6(TREX1):c.408A>G (p.Ala136=)
NM_033629.6(TREX1):c.450C>G (p.Ala150=)
NM_033629.6(TREX1):c.465C>T (p.Ser155=)
NM_033629.6(TREX1):c.471T>C (p.Thr157=)
NM_033629.6(TREX1):c.474_475delinsCT (p.Ala158_Leu159=)
NM_033629.6(TREX1):c.484C>T (p.Leu162=) rs1553820257
NM_033629.6(TREX1):c.495A>C (p.Ala165=)
NM_033629.6(TREX1):c.495A>G (p.Ala165=)
NM_033629.6(TREX1):c.519A>G (p.Pro173=)
NM_033629.6(TREX1):c.51C>T (p.Phe17=)
NM_033629.6(TREX1):c.535C>T (p.Leu179=) rs1575293364
NM_033629.6(TREX1):c.540C>T (p.Gly180=) rs2040359280
NM_033629.6(TREX1):c.54C>T (p.Asp18=)
NM_033629.6(TREX1):c.558G>A (p.Leu186=) rs2107261127
NM_033629.6(TREX1):c.558G>C (p.Leu186=)
NM_033629.6(TREX1):c.591T>C (p.Ala197=)
NM_033629.6(TREX1):c.594G>A (p.Glu198=) rs2040363169
NM_033629.6(TREX1):c.600T>C (p.Asp200=)
NM_033629.6(TREX1):c.60G>A (p.Glu20=)
NM_033629.6(TREX1):c.615C>T (p.Leu205=)
NM_033629.6(TREX1):c.63C>T (p.Ala21=)
NM_033629.6(TREX1):c.642C>G (p.Ala214=)
NM_033629.6(TREX1):c.645G>A (p.Leu215=)
NM_033629.6(TREX1):c.649C>A (p.Arg217=)
NM_033629.6(TREX1):c.663T>A (p.Ala221=)
NM_033629.6(TREX1):c.663T>G (p.Ala221=)
NM_033629.6(TREX1):c.666C>T (p.His222=)
NM_033629.6(TREX1):c.670A>C (p.Arg224=)
NM_033629.6(TREX1):c.678C>T (p.Phe226=) rs139228069
NM_033629.6(TREX1):c.69C>T (p.Gly23=)
NM_033629.6(TREX1):c.6C>T (p.Gly2=)
NM_033629.6(TREX1):c.705C>T (p.Val235=)
NM_033629.6(TREX1):c.70T>C (p.Leu24=)
NM_033629.6(TREX1):c.720G>A (p.Arg240=) rs72556555
NM_033629.6(TREX1):c.726G>A (p.Lys242=)
NM_033629.6(TREX1):c.72G>A (p.Leu24=)
NM_033629.6(TREX1):c.735A>T (p.Pro245=)
NM_033629.6(TREX1):c.753T>G (p.Thr251=)
NM_033629.6(TREX1):c.75C>G (p.Pro25=)
NM_033629.6(TREX1):c.760C>T (p.Leu254=)
NM_033629.6(TREX1):c.783T>C (p.Ser261=)
NM_033629.6(TREX1):c.786C>T (p.Pro262=)
NM_033629.6(TREX1):c.798G>A (p.Glu266=) rs745652233
NM_033629.6(TREX1):c.849C>T (p.Ser283=) rs776171409
NM_033629.6(TREX1):c.871C>T (p.Leu291=)
NM_033629.6(TREX1):c.873G>A (p.Leu291=)
NM_033629.6(TREX1):c.873G>C (p.Leu291=)
NM_033629.6(TREX1):c.880C>T (p.Leu294=)
NM_033629.6(TREX1):c.889C>T (p.Leu297=)
NM_033629.6(TREX1):c.909A>G (p.Thr303=)
NM_033629.6(TREX1):c.910C>T (p.Leu304=)
NM_033629.6(TREX1):c.915T>C (p.Tyr305=)
NM_033629.6(TREX1):c.918A>G (p.Gly306=)
NM_033629.6(TREX1):c.921A>G (p.Leu307=)
NM_033629.6(TREX1):c.930C>A (p.Ala310=)
NM_033629.6(TREX1):c.939G>A (p.Gly313=) rs2040393602
NM_033629.6(TREX1):c.96G>A (p.Thr32=)

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