ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 404
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HGVS dbSNP
NC_000002.12:g.(?_162288115)_(162288375_?)del
NC_000013.11:g.(?_50953885)_(50956494_?)del
NC_000020.11:g.(?_36892912)_(36898564_?)dup
NC_000020.11:g.(?_36904137)_(36912572_?)del
NM_001111.5(ADAR):c.1000C>G (p.Leu334Val)
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn) rs763575197
NM_001111.5(ADAR):c.1024G>T (p.Asp342Tyr)
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.1062T>G (p.His354Gln)
NM_001111.5(ADAR):c.1089G>A (p.Met363Ile)
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1110C>G (p.Asn370Lys)
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala) rs1571107810
NM_001111.5(ADAR):c.115T>G (p.Phe39Val)
NM_001111.5(ADAR):c.1177A>G (p.Asn393Asp)
NM_001111.5(ADAR):c.1192A>G (p.Asn398Asp)
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884
NM_001111.5(ADAR):c.1257A>C (p.Leu419Phe)
NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys) rs1571107070
NM_001111.5(ADAR):c.1319G>A (p.Gly440Asp) rs1274234563
NM_001111.5(ADAR):c.1327A>G (p.Lys443Glu)
NM_001111.5(ADAR):c.1400G>A (p.Arg467His)
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr) rs761708272
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156
NM_001111.5(ADAR):c.1547G>A (p.Ser516Asn)
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg) rs1571096481
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235
NM_001111.5(ADAR):c.1654G>A (p.Gly552Arg)
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly) rs374014885
NM_001111.5(ADAR):c.1765A>G (p.Thr589Ala)
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg) rs373667326
NM_001111.5(ADAR):c.176A>G (p.Lys59Arg)
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1785+4G>A rs1571095587
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala)
NM_001111.5(ADAR):c.1824_1826CTT[1] (p.Phe610del) rs759833046
NM_001111.5(ADAR):c.1841G>A (p.Ser614Asn)
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) rs570647049
NM_001111.5(ADAR):c.185C>T (p.Pro62Leu)
NM_001111.5(ADAR):c.1865G>A (p.Cys622Tyr)
NM_001111.5(ADAR):c.200C>T (p.Ser67Phe)
NM_001111.5(ADAR):c.2069C>T (p.Ser690Phe)
NM_001111.5(ADAR):c.2151C>T (p.Gly717=)
NM_001111.5(ADAR):c.215G>A (p.Arg72Gln)
NM_001111.5(ADAR):c.217C>G (p.Pro73Ala)
NM_001111.5(ADAR):c.2196G>A (p.Leu732=)
NM_001111.5(ADAR):c.2207G>A (p.Arg736His)
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn)
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile) rs145849344
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) rs762568334
NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln) rs750048114
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) rs1557869750
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala) rs142456688
NM_001111.5(ADAR):c.2785A>C (p.Lys929Gln)
NM_001111.5(ADAR):c.2795C>G (p.Ser932Cys)
NM_001111.5(ADAR):c.2804C>T (p.Ala935Val)
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln)
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu)
NM_001111.5(ADAR):c.2907C>T (p.Gly969=)
NM_001111.5(ADAR):c.3002G>A (p.Arg1001His)
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634
NM_001111.5(ADAR):c.3082G>A (p.Gly1028Arg)
NM_001111.5(ADAR):c.3095G>A (p.Arg1032His) rs773129591
NM_001111.5(ADAR):c.3222G>T (p.Gly1074=)
NM_001111.5(ADAR):c.3278A>G (p.Asp1093Gly)
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln) rs1571045177
NM_001111.5(ADAR):c.3509C>T (p.Ser1170Phe)
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His) rs866441514
NM_001111.5(ADAR):c.3568C>T (p.Arg1190Cys)
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met)
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) rs986264460
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu) rs1463382499
NM_001111.5(ADAR):c.475C>G (p.His159Asp) rs921496664
NM_001111.5(ADAR):c.502C>A (p.Pro168Thr) rs1571111089
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.592G>A (p.Ala198Thr)
NM_001111.5(ADAR):c.594G>A (p.Ala198=) rs563756226
NM_001111.5(ADAR):c.643G>A (p.Gly215Ser)
NM_001111.5(ADAR):c.650G>A (p.Ser217Asn) rs199906332
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala) rs139471471
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile) rs1557887942
NM_001111.5(ADAR):c.718G>C (p.Asp240His) rs1374526080
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.983G>A (p.Arg328Gln) rs371476324
NM_001111.5(ADAR):c.989T>C (p.Ile330Thr) rs770793371
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu) rs1571113228
NM_001142279.2(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_001142279.2(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569
NM_001142279.2(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126
NM_001142279.2(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_001142279.2(RNASEH2B):c.308A>G (p.Lys103Arg) rs767086382
NM_001142279.2(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944
NM_001142279.2(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937
NM_001142279.2(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382
NM_001142279.2(RNASEH2B):c.428A>T (p.Glu143Val) rs200535256
NM_001142279.2(RNASEH2B):c.445G>C (p.Glu149Gln) rs770355902
NM_001142279.2(RNASEH2B):c.448A>G (p.Ile150Val) rs1593470380
NM_001142279.2(RNASEH2B):c.523G>A (p.Val175Met) rs141049110
NM_001142279.2(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn) rs1593474848
NM_001142279.2(RNASEH2B):c.659T>C (p.Ile220Thr) rs747995413
NM_001142279.2(RNASEH2B):c.741+4440A>T rs1307271194
NM_001142279.2(RNASEH2B):c.741+4445A>G rs150363383
NM_001142279.2(RNASEH2B):c.741+4485G>A rs761333168
NM_001142279.2(RNASEH2B):c.741+6898G>A rs201190805
NM_006397.2(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.2(RNASEH2A):c.222C>T (p.Ser74=) rs891089016
NM_006397.2(RNASEH2A):c.275C>T (p.Ala92Val) rs562864527
NM_006397.2(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.2(RNASEH2A):c.324-6C>A rs1599533222
NM_006397.2(RNASEH2A):c.374T>C (p.Ile125Thr) rs150008398
NM_006397.2(RNASEH2A):c.439G>C (p.Glu147Gln) rs769486587
NM_006397.2(RNASEH2A):c.566C>A (p.Ala189Asp) rs1448707577
NM_006397.2(RNASEH2A):c.568G>A (p.Val190Met) rs370225385
NM_006397.2(RNASEH2A):c.703C>T (p.Arg235Trp) rs773112247
NM_006397.2(RNASEH2A):c.715C>T (p.Arg239Cys) rs372667206
NM_006397.2(RNASEH2A):c.74G>T (p.Arg25Leu) rs955631391
NM_006397.2(RNASEH2A):c.760T>C (p.Trp254Arg) rs757666508
NM_006397.2(RNASEH2A):c.79G>C (p.Glu27Gln) rs770044946
NM_006397.2(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862
NM_006397.2(RNASEH2A):c.83C>A (p.Pro28His) rs1568386452
NM_006397.2(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345
NM_006397.3(RNASEH2A):c.101A>G (p.Asp34Gly)
NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His)
NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg)
NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg)
NM_006397.3(RNASEH2A):c.135G>A (p.Met45Ile)
NM_006397.3(RNASEH2A):c.142G>A (p.Ala48Thr)
NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly)
NM_006397.3(RNASEH2A):c.160C>G (p.Leu54Val)
NM_006397.3(RNASEH2A):c.166C>T (p.Arg56Cys)
NM_006397.3(RNASEH2A):c.167G>T (p.Arg56Leu)
NM_006397.3(RNASEH2A):c.223G>C (p.Glu75Gln)
NM_006397.3(RNASEH2A):c.227G>A (p.Arg76Gln)
NM_006397.3(RNASEH2A):c.323G>A (p.Arg108Gln)
NM_006397.3(RNASEH2A):c.337C>A (p.Leu113Met)
NM_006397.3(RNASEH2A):c.427G>A (p.Val143Ile)
NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His)
NM_006397.3(RNASEH2A):c.515A>G (p.Tyr172Cys)
NM_006397.3(RNASEH2A):c.518C>T (p.Pro173Leu)
NM_006397.3(RNASEH2A):c.569T>C (p.Val190Ala)
NM_006397.3(RNASEH2A):c.625G>C (p.Gly209Arg)
NM_006397.3(RNASEH2A):c.670G>A (p.Val224Met)
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu)
NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys)
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669
NM_006397.3(RNASEH2A):c.803T>C (p.Ile268Thr)
NM_006397.3(RNASEH2A):c.839G>A (p.Arg280His)
NM_006397.3(RNASEH2A):c.866del (p.Leu289fs)
NM_006397.3(RNASEH2A):c.871C>T (p.Arg291Cys)
NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu)
NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys)
NM_006397.3(RNASEH2A):c.883T>A (p.Ser295Thr)
NM_015474.3(SAMHD1):c.1042C>T (p.Arg348Cys) rs761561066
NM_015474.3(SAMHD1):c.1174A>G (p.Lys392Glu) rs1338752164
NM_015474.3(SAMHD1):c.1258A>T (p.Thr420Ser) rs754153159
NM_015474.3(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
NM_015474.3(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432
NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072
NM_015474.3(SAMHD1):c.1410+5G>T rs1601119476
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404
NM_015474.3(SAMHD1):c.1453C>T (p.Pro485Ser) rs886645360
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.1746+4_1746+15del rs1568758975
NM_015474.3(SAMHD1):c.2T>A (p.Met1Lys) rs923362391
NM_015474.3(SAMHD1):c.364A>G (p.Ile122Val) rs757367080
NM_015474.3(SAMHD1):c.428G>A (p.Arg143His) rs369035155
NM_015474.3(SAMHD1):c.510G>C (p.Gly170=) rs767971429
NM_015474.3(SAMHD1):c.541G>A (p.Ala181Thr) rs1455837248
NM_015474.3(SAMHD1):c.610C>T (p.Leu204Phe) rs1053324143
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.668C>T (p.Pro223Leu) rs1601138159
NM_015474.3(SAMHD1):c.696G>T (p.Thr232=) rs763408711
NM_015474.3(SAMHD1):c.728A>C (p.His243Pro) rs757614478
NM_015474.3(SAMHD1):c.733A>G (p.Ile245Val) rs754150741
NM_015474.3(SAMHD1):c.831A>T (p.Glu277Asp) rs202019609
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn)
NM_015474.4(SAMHD1):c.1094C>A (p.Thr365Asn)
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val)
NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr)
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys)
NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser)
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met)
NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro)
NM_015474.4(SAMHD1):c.1536G>C (p.Lys512Asn)
NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu)
NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys)
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)
NM_015474.4(SAMHD1):c.19G>A (p.Glu7Lys)
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser)
NM_015474.4(SAMHD1):c.249G>T (p.Glu83Asp)
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys)
NM_015474.4(SAMHD1):c.349-5T>C
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly)
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg)
NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu)
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln)
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup)
NM_015474.4(SAMHD1):c.696+5G>A
NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu)
NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp)
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu)
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu)
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)
NM_022168.4(IFIH1):c.1051A>G (p.Lys351Glu)
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys) rs887114201
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter)
NM_022168.4(IFIH1):c.1069G>T (p.Gly357Ter)
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys)
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser) rs764148204
NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His)
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn)
NM_022168.4(IFIH1):c.1232T>C (p.Ile411Thr)
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322
NM_022168.4(IFIH1):c.1259C>T (p.Ser420Phe)
NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr)
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala)
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp) rs1474848285
NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr)
NM_022168.4(IFIH1):c.1524+2T>G rs865898522
NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser)
NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala) rs145641024
NM_022168.4(IFIH1):c.1589del (p.Asn530fs)
NM_022168.4(IFIH1):c.1641+2T>C
NM_022168.4(IFIH1):c.1642-1G>A
NM_022168.4(IFIH1):c.1666G>A (p.Glu556Lys)
NM_022168.4(IFIH1):c.1704del (p.Pro569fs) rs1558866398
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile)
NM_022168.4(IFIH1):c.1745C>T (p.Ala582Val)
NM_022168.4(IFIH1):c.1765+1del
NM_022168.4(IFIH1):c.1766-3C>T
NM_022168.4(IFIH1):c.1789G>A (p.Glu597Lys)
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp) rs763549486
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln)
NM_022168.4(IFIH1):c.1855A>G (p.Met619Val)
NM_022168.4(IFIH1):c.1860A>G (p.Ile620Met) rs752494417
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val) rs186942719
NM_022168.4(IFIH1):c.1874A>T (p.His625Leu)
NM_022168.4(IFIH1):c.1885T>G (p.Phe629Val)
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser) rs200980825
NM_022168.4(IFIH1):c.1889A>G (p.Tyr630Cys)
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr)
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn) rs567418553
NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp)
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser) rs376074455
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2044+2T>C rs201026962
NM_022168.4(IFIH1):c.2045-1G>A rs748813106
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer)
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923
NM_022168.4(IFIH1):c.216C>A (p.His72Gln)
NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe)
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser)
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs)
NM_022168.4(IFIH1):c.2259T>G (p.His753Gln)
NM_022168.4(IFIH1):c.2299del (p.Thr767fs)
NM_022168.4(IFIH1):c.229C>A (p.Arg77=)
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln) rs367851471
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val)
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807
NM_022168.4(IFIH1):c.2413A>T (p.Ile805Phe)
NM_022168.4(IFIH1):c.2414T>G (p.Ile805Ser)
NM_022168.4(IFIH1):c.2416C>T (p.Arg806Cys)
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile)
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp) rs200810568
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter)
NM_022168.4(IFIH1):c.2506A>G (p.Ser836Gly)
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter) rs750804689
NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg)
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu) rs200833729
NM_022168.4(IFIH1):c.25G>A (p.Glu9Lys)
NM_022168.4(IFIH1):c.2616+6G>A
NM_022168.4(IFIH1):c.2616+6G>T rs761784724
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val)
NM_022168.4(IFIH1):c.2642T>C (p.Ile881Thr)
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr) rs748688202
NM_022168.4(IFIH1):c.2723A>T (p.Lys908Ile)
NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr)
NM_022168.4(IFIH1):c.277C>T (p.Arg93Cys)
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg) rs747311719
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His) rs374202040
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp)
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile) rs1576220013
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile) rs1322389017
NM_022168.4(IFIH1):c.283A>G (p.Met95Val) rs777534095
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn) rs751417093
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile)
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser) rs1466752669
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser) rs202009944
NM_022168.4(IFIH1):c.2917G>A (p.Val973Met)
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile) rs74162090
NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His) rs1163178795
NM_022168.4(IFIH1):c.301G>C (p.Asp101His) rs1576243308
NM_022168.4(IFIH1):c.3055del (p.Cys1019fs)
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu) rs764380346
NM_022168.4(IFIH1):c.36C>G (p.Arg12=)
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys) rs766508793
NM_022168.4(IFIH1):c.428T>C (p.Leu143Pro) rs1231638178
NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly) rs74162074
NM_022168.4(IFIH1):c.454-4A>G
NM_022168.4(IFIH1):c.47C>G (p.Ser16Trp)
NM_022168.4(IFIH1):c.487G>A (p.Gly163Ser)
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys)
NM_022168.4(IFIH1):c.557G>C (p.Arg186Pro)
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.643G>A (p.Val215Ile)
NM_022168.4(IFIH1):c.659T>C (p.Val220Ala)
NM_022168.4(IFIH1):c.688C>T (p.Gln230Ter) rs771251917
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895
NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter)
NM_022168.4(IFIH1):c.933C>A (p.Tyr311Ter) rs1057520076
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter) rs74162079
NM_022168.4(IFIH1):c.996G>T (p.Gly332=) rs1576229569
NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln)
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr)
NM_024570.4(RNASEH2B):c.244+3A>G
NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val)
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu)
NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln)
NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp)
NM_024570.4(RNASEH2B):c.697A>C (p.Lys233Gln)
NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe)
NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu)
NM_024570.4(RNASEH2B):c.928G>A (p.Gly310Arg)
NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.3(RNASEH2C):c.169G>A (p.Glu57Lys) rs769127379
NM_032193.3(RNASEH2C):c.175C>A (p.Leu59Ile) rs764887792
NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly) rs939276490
NM_032193.3(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.3(RNASEH2C):c.348+6C>T rs779293116
NM_032193.3(RNASEH2C):c.434G>T (p.Arg145Leu) rs774773395
NM_032193.3(RNASEH2C):c.472C>G (p.His158Asp) rs759118175
NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258
NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn)
NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu)
NM_032193.4(RNASEH2C):c.235C>G (p.Leu79Val)
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser)
NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe)
NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg)
NM_032193.4(RNASEH2C):c.31A>G (p.Arg11Gly)
NM_032193.4(RNASEH2C):c.463G>A (p.Ala155Thr)
NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr)
NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser)
NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile)
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser)
NM_033629.6(TREX1):c.142_144del (p.Pro48del)
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys)
NM_033629.6(TREX1):c.191T>C (p.Val64Ala)
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg)
NM_033629.6(TREX1):c.212T>C (p.Val71Ala)
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys)
NM_033629.6(TREX1):c.24G>A (p.Pro8=)
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) rs775075513
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) rs748535974
NM_033629.6(TREX1):c.284A>G (p.His95Arg)
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) rs201496629
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) rs761651331
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437
NM_033629.6(TREX1):c.427C>G (p.Leu143Val)
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly)
NM_033629.6(TREX1):c.473C>T (p.Ala158Val)
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) rs1575293697
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) rs55691060
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg)
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) rs1560113388
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr)
NM_033629.6(TREX1):c.757C>G (p.His253Asp)
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) rs867148059
NM_033629.6(TREX1):c.817C>G (p.Leu273Val)
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu)
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) rs148833270
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.908C>T (p.Thr303Ile)
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg)
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg)
NM_080628.3(TLDC2):c.*137C>T rs150713148
NM_080628.3(TLDC2):c.*216C>T rs202165710

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