ClinVar Miner

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

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) rs746384382 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp) rs1044845711 0.00001
NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter) rs769561543 0.00001
NM_015474.4(SAMHD1):c.1411-2A>G rs515726141 0.00001
NM_015474.4(SAMHD1):c.1609-1G>T rs515726143 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter) rs779028596 0.00001
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter) rs752442185 0.00001
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His) rs369035155 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter) rs1300333132 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs) rs515726146 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_024570.4(RNASEH2B):c.132T>A (p.Cys44Ter) rs74876702 0.00001
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter) rs75326546 0.00001
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile) rs79310911 0.00001
NM_024570.4(RNASEH2B):c.510+1G>A rs77301371 0.00001
NM_024570.4(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383 0.00001
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) rs747399274 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NC_000001.10:g.(?_154422067)_(154580482_?)del
NC_000003.11:g.(?_48507870)_(50340407_?)del
NC_000013.10:g.(?_51484213)_(51484296_?)del
NC_000013.10:g.(?_51501523)_(51530610_?)del
NC_000020.10:g.(?_35521335)_(35580046_?)del
NC_000020.10:g.(?_35545115)_(35563602_?)del
NC_000020.10:g.(?_35555575)_(35559288_?)del
NC_000020.10:g.(?_35563412)_(35563612_?)del
NC_000020.10:g.(?_35563422)_(35563602_?)del
NC_000020.10:g.(?_35575121)_(35580046_?)del
NC_000020.11:g.(?_36946728)_(36951653_?)del
NC_000020.11:g.(?_36951416)_(36951663_?)del
NC_000020.11:g.(?_36951426)_(36951653_?)del
NC_000020.11:g.(?_36951436)_(36951643_?)del
NC_000020.11:g.36935169_36935190dup
NM_001111.5(ADAR):c.1000del (p.Val333_Leu334insTer)
NM_001111.5(ADAR):c.1011_1012del (p.Met337fs)
NM_001111.5(ADAR):c.1096_1097del (p.Lys366fs)
NM_001111.5(ADAR):c.133G>T (p.Glu45Ter)
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter) rs121912421
NM_001111.5(ADAR):c.1472C>G (p.Ser491Ter)
NM_001111.5(ADAR):c.1576C>T (p.Gln526Ter)
NM_001111.5(ADAR):c.1740dup (p.Ser581fs)
NM_001111.5(ADAR):c.2128_2131dup (p.Asn711fs) rs2101619771
NM_001111.5(ADAR):c.2309del (p.Pro770fs) rs2101589045
NM_001111.5(ADAR):c.2344C>T (p.Gln782Ter) rs2101588892
NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)
NM_001111.5(ADAR):c.2564dup (p.Thr856fs) rs1571065237
NM_001111.5(ADAR):c.2571_2572del (p.Asn857fs)
NM_001111.5(ADAR):c.2583del (p.Ser862fs)
NM_001111.5(ADAR):c.271del (p.Arg91fs)
NM_001111.5(ADAR):c.2929_2939dup (p.Met981fs) rs2101576292
NM_001111.5(ADAR):c.296dup (p.Arg100fs)
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3040G>T (p.Glu1014Ter)
NM_001111.5(ADAR):c.3125G>A (p.Arg1042His)
NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys)
NM_001111.5(ADAR):c.3233G>T (p.Arg1078Leu)
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.3346del (p.Arg1116fs) rs1557863734
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.3402T>A (p.Tyr1134Ter)
NM_001111.5(ADAR):c.344del (p.Gly115fs) rs2101644365
NM_001111.5(ADAR):c.391C>T (p.Gln131Ter)
NM_001111.5(ADAR):c.439del (p.Leu147fs)
NM_001111.5(ADAR):c.520C>T (p.Arg174Ter)
NM_001111.5(ADAR):c.649dup (p.Ser217fs)
NM_001111.5(ADAR):c.763C>T (p.Gln255Ter) rs2101641985
NM_001111.5(ADAR):c.85C>T (p.Gln29Ter) rs2101645916
NM_001111.5(ADAR):c.929dup (p.Ser311fs) rs2101641171
NM_001111.5(ADAR):c.982C>T (p.Arg328Ter) rs1322905273
NM_006397.3(RNASEH2A):c.13G>T (p.Glu5Ter)
NM_006397.3(RNASEH2A):c.160del (p.Leu54fs)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.223G>T (p.Glu75Ter) rs753695101
NM_006397.3(RNASEH2A):c.229del (p.Glu77fs)
NM_006397.3(RNASEH2A):c.263_267dup (p.Gly90fs)
NM_006397.3(RNASEH2A):c.339_343dup (p.Ser115Ter)
NM_006397.3(RNASEH2A):c.346del (p.Leu116fs)
NM_006397.3(RNASEH2A):c.447C>A (p.Tyr149Ter)
NM_006397.3(RNASEH2A):c.471dup (p.Pro158fs)
NM_006397.3(RNASEH2A):c.543_544del (p.Ala182fs)
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.589del (p.Glu197fs) rs781284373
NM_006397.3(RNASEH2A):c.657G>A (p.Trp219Ter) rs2145830181
NM_006397.3(RNASEH2A):c.87C>A (p.Cys29Ter)
NM_015474.4(SAMHD1):c.101dup (p.Leu36fs) rs752942007
NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer) rs2063478568
NM_015474.4(SAMHD1):c.1034del (p.Asn345fs) rs2146116814
NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter)
NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs)
NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs) rs2063446897
NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter) rs2148365710
NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer)
NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)
NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)
NM_015474.4(SAMHD1):c.1211del (p.Gly404fs)
NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs)
NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)
NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter) rs2146160649
NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs) rs2063399418
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs) rs2148360598
NM_015474.4(SAMHD1):c.1389del (p.Gly464fs)
NM_015474.4(SAMHD1):c.1408del (p.Arg470fs) rs1568762986
NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer) rs2148359769
NM_015474.4(SAMHD1):c.1433_1434dup (p.Glu479fs)
NM_015474.4(SAMHD1):c.1435G>T (p.Glu479Ter) rs2063392759
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1444_1453del (p.Ser482fs) rs2148359722
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs)
NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs) rs2063734182
NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer)
NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter)
NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter) rs1601113209
NM_015474.4(SAMHD1):c.1584del (p.Ala529fs) rs2148355967
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)
NM_015474.4(SAMHD1):c.1618del (p.Leu540fs)
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter) rs747918559
NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter) rs2146160463
NM_015474.4(SAMHD1):c.287del (p.Glu96fs)
NM_015474.4(SAMHD1):c.328del (p.Ile110fs) rs759706198
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.460del (p.Tyr154fs) rs2063594580
NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)
NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)
NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs) rs1601144527
NM_015474.4(SAMHD1):c.555dup (p.Gln186fs)
NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs) rs1328663348
NM_015474.4(SAMHD1):c.56del (p.Pro19fs)
NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)
NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT rs2146131738
NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs) rs2146127824
NM_015474.4(SAMHD1):c.66del (p.Ser23fs) rs1442728513
NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter) rs2063541685
NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter) rs1219206348
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter) rs750807433
NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)
NM_015474.4(SAMHD1):c.779del (p.Ile260fs)
NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)
NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)
NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)
NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter) rs752962934
NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)
NM_015474.4(SAMHD1):c.883del (p.Ser295fs)
NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)
NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter) rs2063480012
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)
NM_015474.4(SAMHD1):c.987del (p.Phe329fs)
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys) rs587777448
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu) rs587777446
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp) rs1553696482
NM_024570.4(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_024570.4(RNASEH2B):c.129dup (p.Cys44fs) rs2137925083
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter) rs2137952274
NM_024570.4(RNASEH2B):c.476del (p.Ser159fs) rs2137982729
NM_024570.4(RNASEH2B):c.47_48dup (p.Val17fs)
NM_024570.4(RNASEH2B):c.4del (p.Ala2fs) rs2137866137
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_024570.4(RNASEH2B):c.509dup (p.Val171fs)
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.63del (p.Glu22fs) rs2137866660
NM_024570.4(RNASEH2B):c.648del (p.Ser217fs)
NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)
NM_024570.4(RNASEH2B):c.83C>G (p.Ser28Ter)
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
NM_033629.6(TREX1):c.144del (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) rs1331920811
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) rs763966000
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
NM_033629.6(TREX1):c.371_381del (p.His124fs)
NM_033629.6(TREX1):c.399dup (p.Leu134fs) rs2107258834
NM_033629.6(TREX1):c.513del (p.His171fs)
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.55dup (p.Met19fs)
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.5del (p.Gly2fs) rs2107254550
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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