ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NC_000002.12:g.(?_162288115)_(162288375_?)del
NC_000020.11:g.(?_36904137)_(36912572_?)del
NM_001111.5(ADAR):c.1042A>G (p.Thr348Ala)
NM_001111.5(ADAR):c.1051C>T (p.Pro351Ser)
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr)
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys)
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) rs570647049
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) rs762568334
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr)
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His)
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) rs986264460
NM_001111.5(ADAR):c.475C>G (p.His159Asp)
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser) rs779939725
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001111.5(ADAR):c.594G>A (p.Ala198=) rs563756226
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile)
NM_001111.5(ADAR):c.943G>T (p.Ala315Ser) rs765669048
NM_001111.5(ADAR):c.973A>G (p.Thr325Ala) rs771889800
NM_006397.2(RNASEH2A):c.179T>C (p.Leu60Pro)
NM_006397.2(RNASEH2A):c.222C>T (p.Ser74=) rs891089016
NM_006397.2(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.2(RNASEH2A):c.374T>C (p.Ile125Thr)
NM_006397.2(RNASEH2A):c.74G>T (p.Arg25Leu)
NM_006397.2(RNASEH2A):c.83C>A (p.Pro28His)
NM_015474.3(SAMHD1):c.1258A>T (p.Thr420Ser)
NM_015474.3(SAMHD1):c.1321G>C (p.Ala441Pro)
NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn)
NM_015474.3(SAMHD1):c.1590C>G (p.Ile530Met)
NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1746+4_1746+15delGGTGGCCTGTTA
NM_015474.3(SAMHD1):c.364A>G (p.Ile122Val)
NM_015474.3(SAMHD1):c.696G>T (p.Thr232=)
NM_022168.3(IFIH1):c.230G>A (p.Arg77Gln) rs367851471
NM_022168.3(IFIH1):c.418G>A (p.Glu140Lys) rs766508793
NM_022168.3(IFIH1):c.445A>G (p.Arg149Gly) rs74162074
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys)
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro) rs139714761
NM_022168.4(IFIH1):c.1704del (p.Pro569Glnfs)
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser) rs200980825
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)
NM_022168.4(IFIH1):c.2016del (p.Asp673Ilefs)
NM_022168.4(IFIH1):c.2044+2T>C rs201026962
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp)
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu) rs200833729
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile)
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu)
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg)
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)
NM_024570.3(RNASEH2B):c.105_107delAAT (p.Met36del)
NM_024570.3(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569
NM_024570.3(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126
NM_024570.3(RNASEH2B):c.314A>C (p.Asp105Ala)
NM_024570.3(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937
NM_024570.3(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382
NM_024570.3(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383
NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly)
NM_032193.3(RNASEH2C):c.268_269delAAinsGT (p.Lys90Val)
NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly)
NM_033629.4(TREX1):c.219G>A (p.Pro73=) rs778992418
NM_033629.4(TREX1):c.899C>T (p.Ala300Val) rs1553820567
NM_033629.4(TREX1):c.907A>C (p.Thr303Pro) rs76224909
NM_033629.5(TREX1):c.338G>A (p.Arg113Gln)
NM_033629.5(TREX1):c.382C>T (p.Arg128Cys) rs199614534
NM_033629.5(TREX1):c.587C>T (p.Thr196Met) rs754998766
NM_033629.5(TREX1):c.623G>C (p.Cys208Ser)
NM_033629.5(TREX1):c.690G>C (p.Arg230Ser)
NM_033629.5(TREX1):c.869C>T (p.Pro290Leu)

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