ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Invitae

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 270
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_163144625)_(163144885_?)del
NC_000013.10:g.(?_51528021)_(51530630_?)del
NC_000020.10:g.(?_35532540)_(35540975_?)del
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NC_000020.10:g.(?_35579819)_(35580066_?)del
NC_000020.10:g.(?_35579829)_(35580056_?)del
NM_001111.5(ADAR):c.1042A>G (p.Thr348Ala) rs1456341426
NM_001111.5(ADAR):c.1051C>T (p.Pro351Ser) rs1557886901
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1125C>T (p.Thr375=) rs145166589
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala)
NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys)
NM_001111.5(ADAR):c.1319G>A (p.Gly440Asp)
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr)
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln)
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg)
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
NM_001111.5(ADAR):c.165G>T (p.Pro55=) rs570176840
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly)
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg)
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1785+4G>A
NM_001111.5(ADAR):c.1824_1826CTT[1] (p.Phe610del)
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) rs570647049
NM_001111.5(ADAR):c.1890C>T (p.Cys630=) rs558496566
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059
NM_001111.5(ADAR):c.2079+8G>A rs376867928
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile)
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) rs762568334
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668
NM_001111.5(ADAR):c.2564dup (p.Thr856fs)
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) rs1557869750
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala)
NM_001111.5(ADAR):c.298= (p.Arg100=) rs1466731
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032
NM_001111.5(ADAR):c.3346del (p.Arg1116fs) rs1557863734
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln)
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His)
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) rs986264460
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu)
NM_001111.5(ADAR):c.475C>G (p.His159Asp)
NM_001111.5(ADAR):c.502C>A (p.Pro168Thr)
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.656G>C (p.Gly219Ala)
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile) rs1557887942
NM_001111.5(ADAR):c.718G>C (p.Asp240His)
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561
NM_001111.5(ADAR):c.943G>T (p.Ala315Ser) rs765669048
NM_001111.5(ADAR):c.973A>G (p.Thr325Ala) rs771889800
NM_001111.5(ADAR):c.989T>C (p.Ile330Thr)
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu)
NM_006397.2(RNASEH2A):c.179T>C (p.Leu60Pro)
NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.2(RNASEH2A):c.222C>T (p.Ser74=) rs891089016
NM_006397.2(RNASEH2A):c.275C>T (p.Ala92Val)
NM_006397.2(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.2(RNASEH2A):c.324-6C>A
NM_006397.2(RNASEH2A):c.36C>T (p.Gly12=) rs375139492
NM_006397.2(RNASEH2A):c.374T>C (p.Ile125Thr)
NM_006397.2(RNASEH2A):c.412-6T>G rs192358167
NM_006397.2(RNASEH2A):c.417C>T (p.Phe139=) rs201413125
NM_006397.2(RNASEH2A):c.439G>C (p.Glu147Gln)
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
NM_006397.2(RNASEH2A):c.465A>G (p.Gln155=) rs758492414
NM_006397.2(RNASEH2A):c.566C>A (p.Ala189Asp)
NM_006397.2(RNASEH2A):c.568G>A (p.Val190Met) rs370225385
NM_006397.2(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284
NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.703C>T (p.Arg235Trp)
NM_006397.2(RNASEH2A):c.715C>T (p.Arg239Cys)
NM_006397.2(RNASEH2A):c.74G>T (p.Arg25Leu)
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_006397.2(RNASEH2A):c.79G>C (p.Glu27Gln)
NM_006397.2(RNASEH2A):c.83C>A (p.Pro28His) rs1568386452
NM_015474.3(SAMHD1):c.1174A>G (p.Lys392Glu)
NM_015474.3(SAMHD1):c.1258A>T (p.Thr420Ser)
NM_015474.3(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072
NM_015474.3(SAMHD1):c.1408del (p.Arg470fs) rs1568762986
NM_015474.3(SAMHD1):c.1410+5G>T
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn)
NM_015474.3(SAMHD1):c.1453C>T (p.Pro485Ser)
NM_015474.3(SAMHD1):c.1476del (p.Lys492fs)
NM_015474.3(SAMHD1):c.1590C>G (p.Ile530Met) rs1354357820
NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) rs200856791
NM_015474.3(SAMHD1):c.1746+4_1746+15delGGTGGCCTGTTA rs1568758975
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.2T>A (p.Met1Lys)
NM_015474.3(SAMHD1):c.364A>G (p.Ile122Val)
NM_015474.3(SAMHD1):c.400C>T (p.Arg134Ter)
NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517
NM_015474.3(SAMHD1):c.494_495dup (p.Glu166fs)
NM_015474.3(SAMHD1):c.510G>C (p.Gly170=)
NM_015474.3(SAMHD1):c.541G>A (p.Ala181Thr)
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.610C>T (p.Leu204Phe)
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.658C>T (p.Arg220Ter)
NM_015474.3(SAMHD1):c.668C>T (p.Pro223Leu)
NM_015474.3(SAMHD1):c.696G>T (p.Thr232=)
NM_015474.3(SAMHD1):c.700G>T (p.Glu234Ter)
NM_015474.3(SAMHD1):c.728A>C (p.His243Pro)
NM_015474.3(SAMHD1):c.733A>G (p.Ile245Val)
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_015474.3(SAMHD1):c.831A>T (p.Glu277Asp)
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys)
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu) rs140977021
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His) rs145520044
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser)
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.1475G>A (p.Gly492Asp)
NM_022168.4(IFIH1):c.1524+2T>G
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg) rs142348767
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1704del (p.Pro569fs) rs1558866398
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp)
NM_022168.4(IFIH1):c.1860A>G (p.Ile620Met)
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val)
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser) rs200980825
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn)
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu) rs144274375
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)
NM_022168.4(IFIH1):c.2016_2019AGAT[1] (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563
NM_022168.4(IFIH1):c.2044+2T>C rs201026962
NM_022168.4(IFIH1):c.2045-1G>A
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=) rs147175706
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln) rs367851471
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=) rs35677292
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2454+6T>C rs6748554
NM_022168.4(IFIH1):c.2455-7T>A rs41399348
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp)
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter)
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu) rs200833729
NM_022168.4(IFIH1):c.2616+6G>T
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr)
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg)
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile) rs140562355
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile)
NM_022168.4(IFIH1):c.2807+1G>A rs35732034
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile)
NM_022168.4(IFIH1):c.283A>G (p.Met95Val)
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser)
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp) rs1553696482
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=) rs372007025
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile)
NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His)
NM_022168.4(IFIH1):c.301G>C (p.Asp101His)
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu)
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys) rs766508793
NM_022168.4(IFIH1):c.428T>C (p.Leu143Pro)
NM_022168.4(IFIH1):c.436A>G (p.Ile146Val) rs146721166
NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly) rs74162074
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg) rs1558876231
NM_022168.4(IFIH1):c.688C>T (p.Gln230Ter)
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter)
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)
NM_022168.4(IFIH1):c.996G>T (p.Gly332=)
NM_024570.3(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_024570.3(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_024570.3(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569
NM_024570.3(RNASEH2B):c.136+1delG rs75186889
NM_024570.3(RNASEH2B):c.156G>A (p.Leu52=) rs35416748
NM_024570.3(RNASEH2B):c.179T>G (p.Leu60Arg)
NM_024570.3(RNASEH2B):c.189A>G (p.Val63=) rs35595258
NM_024570.3(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126
NM_024570.3(RNASEH2B):c.2T>C (p.Met1Thr)
NM_024570.3(RNASEH2B):c.308A>G (p.Lys103Arg)
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.428A>T (p.Glu143Val)
NM_024570.3(RNASEH2B):c.445G>C (p.Glu149Gln)
NM_024570.3(RNASEH2B):c.448A>G (p.Ile150Val)
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_024570.3(RNASEH2B):c.488C>T (p.Thr163Ile)
NM_024570.3(RNASEH2B):c.510+1G>A
NM_024570.3(RNASEH2B):c.510+1delG
NM_024570.3(RNASEH2B):c.523G>A (p.Val175Met)
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.3(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn)
NM_024570.3(RNASEH2B):c.659T>C (p.Ile220Thr)
NM_024570.3(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383
NM_024570.3(RNASEH2B):c.719C>G (p.Ser240Ter)
NM_024570.3(RNASEH2B):c.782A>T (p.Asp261Val)
NM_024570.3(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383
NM_024570.3(RNASEH2B):c.822+5G>A
NM_024570.3(RNASEH2B):c.822+6T>C rs76413207
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.3(RNASEH2C):c.169G>A (p.Glu57Lys)
NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly)
NM_032193.3(RNASEH2C):c.265_267AAG[1] (p.Lys90del) rs141875736
NM_032193.3(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.434G>T (p.Arg145Leu)
NM_032193.3(RNASEH2C):c.472C>G (p.His158Asp)
NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly)
NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) rs376140250
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418
NM_033629.6(TREX1):c.250A>G (p.Ile84Val)
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln)
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.6(TREX1):c.484C>T (p.Leu162=) rs1553820257
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr)
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg)
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser)
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu)
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) rs1553820567
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715
NM_080628.3(TLDC2):c.*172G>A rs35102927
NM_080628.3(TLDC2):c.*216C>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.