ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
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HGVS dbSNP
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001142279.2(RNASEH2B):c.285del (p.Leu96fs) rs1566080738
NM_001142279.2(RNASEH2B):c.741+6955dup rs75254367
NM_001142279.2(RNASEH2B):c.741+7032G>T rs751735556
NM_001142279.2(RNASEH2B):c.741+7128A>G rs886050292
NM_001142279.2(RNASEH2B):c.741+7215A>G rs147825612
NM_001142279.2(RNASEH2B):c.741+7218T>C rs886050293
NM_006397.2(RNASEH2A):c.*120C>T rs73925216
NM_006397.2(RNASEH2A):c.*16G>T rs199696470
NM_006397.2(RNASEH2A):c.*50T>C rs199822158
NM_006397.2(RNASEH2A):c.*68C>T rs564029348
NM_006397.2(RNASEH2A):c.-16T>C rs1046220
NM_006397.2(RNASEH2A):c.-25A>G rs886054235
NM_006397.2(RNASEH2A):c.-49C>T rs375281767
NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.2(RNASEH2A):c.285G>A (p.Val95=) rs374650162
NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) rs11554400
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
NM_006397.2(RNASEH2A):c.550-11T>C rs7247253
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.635A>T (p.Asn212Ile) rs377244188
NM_006397.2(RNASEH2A):c.637+13G>A rs73503453
NM_006397.2(RNASEH2A):c.637+8G>A rs757139110
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304
NM_006397.2(RNASEH2A):c.762-13C>G rs781591228
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_006397.2(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862
NM_015474.3(SAMHD1):c.-10A>G rs199721283
NM_015474.3(SAMHD1):c.-110T>C rs28372906
NM_015474.3(SAMHD1):c.-166G>T rs546207604
NM_015474.3(SAMHD1):c.-31T>C rs142162198
NM_015474.3(SAMHD1):c.-39C>A rs368233437
NM_015474.3(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
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.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) rs200856791
NM_015474.3(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.334G>A (p.Val112Ile) rs144353824
NM_015474.3(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.3(SAMHD1):c.697-11A>G rs200458478
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_015474.3(SAMHD1):c.840C>T (p.Val280=) rs17853622
NM_024570.3(RNASEH2B):c.-107G>A rs886050289
NM_024570.3(RNASEH2B):c.-112C>T rs184573722
NM_024570.3(RNASEH2B):c.-117C>G rs553446261
NM_024570.3(RNASEH2B):c.-181G>A rs886050288
NM_024570.3(RNASEH2B):c.-210G>C rs112702177
NM_024570.3(RNASEH2B):c.-228C>A rs577725827
NM_024570.3(RNASEH2B):c.-313C>G rs886050287
NM_024570.3(RNASEH2B):c.-399C>G rs553965425
NM_024570.3(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569
NM_024570.3(RNASEH2B):c.156G>A (p.Leu52=) rs35416748
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.3(RNASEH2B):c.699-11A>G rs886050290
NM_024570.3(RNASEH2B):c.756A>G (p.Ser252=) rs200721645
NM_024570.3(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383
NM_024570.3(RNASEH2B):c.822+6T>C rs76413207
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_024570.3(RNASEH2B):c.897C>A (p.Thr299=) rs886050291
NM_032193.3(RNASEH2C):c.*27C>G rs886048500
NM_032193.3(RNASEH2C):c.*29A>G rs886048499
NM_032193.3(RNASEH2C):c.*45_*46insG rs886048498
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.3(RNASEH2C):c.-27G>T rs549471118
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
NM_032193.3(RNASEH2C):c.173-14G>A rs886048502
NM_032193.3(RNASEH2C):c.173-4C>G rs886048501
NM_032193.3(RNASEH2C):c.265_267AAG[1] (p.Lys90del) rs141875736
NM_032193.3(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526
NM_032193.3(RNASEH2C):c.348+6C>T rs779293116
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468+13G>A rs182000627
NM_032193.3(RNASEH2C):c.468+5G>C rs753880827
NM_032193.3(RNASEH2C):c.468+8G>A rs751767695
NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) rs376140250
NM_033629.6(TREX1):c.*37T>C rs3135946
NM_033629.6(TREX1):c.-100C>T rs886058623
NM_033629.6(TREX1):c.-26-1G>A rs749323787
NM_033629.6(TREX1):c.-50_-47CTGC[4] rs371036312
NM_033629.6(TREX1):c.-60C>T rs2279076
NM_033629.6(TREX1):c.-68T>C rs3135941
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.312G>C (p.Leu104=) rs56162833
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) rs200510205
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.531= (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) rs886058625
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506
NM_080628.3(TLDC2):c.*28T>C rs45595032
NM_080628.3(TLDC2):c.*43G>A rs115645414
NM_080628.3(TLDC2):c.18-170C>T rs143588093
NM_080628.3(TLDC2):c.18-1G>T rs138927042
NM_080628.3(TLDC2):c.18-218T>C rs114791229
NM_080628.3(TLDC2):c.18-25A>G rs147220022
NM_080628.3(TLDC2):c.18-292C>T rs886056646
NM_080628.3(TLDC2):c.18-433T>C rs757372495
NM_080628.3(TLDC2):c.18-466G>A rs886056645
NM_080628.3(TLDC2):c.18-559G>A rs8124728
NM_080628.3(TLDC2):c.18-641T>G rs886056644
NM_080628.3(TLDC2):c.18-938G>C rs116489517
NM_130384.3(ATRIP):c.*267T>C rs148393533
NM_130384.3(ATRIP):c.*272del rs3135939
NM_130384.3(ATRIP):c.*495C>T rs377157141
NM_130384.3(ATRIP):c.*576G>T rs886058622
NM_130384.3(ATRIP):c.*583A>G rs767364235
NM_130384.3(ATRIP):c.*655G>C rs577465983
NM_130384.3(ATRIP):c.*665C>T rs548710061
NM_182710.3(KAT5):c.*146C>T rs561937926
NM_182710.3(KAT5):c.*151G>A rs886048496
NM_182710.3(KAT5):c.*162C>G rs544558074
NM_182710.3(KAT5):c.*217G>T rs757672652
NM_182710.3(KAT5):c.*239G>A rs547082810
NM_182710.3(KAT5):c.*379C>T rs886048497
NM_182710.3(KAT5):c.*42G>A rs886048494
NM_182710.3(KAT5):c.*60C>T rs186106053
NM_182710.3(KAT5):c.*61G>A rs756513194
NM_182710.3(KAT5):c.*70G>C rs886048495
NM_182710.3(KAT5):c.1264+704G>A rs4645934
NM_182710.3(KAT5):c.1264+765G>A rs3372
NM_182710.3(KAT5):c.1265-102A>G rs4645937
NM_182710.3(KAT5):c.1265-24C>G rs886048490
NM_182710.3(KAT5):c.1265-311C>T rs886048489
NM_182710.3(KAT5):c.1265-334T>G rs521678
NM_182710.3(KAT5):c.1265-401C>T rs761492773
NM_182710.3(KAT5):c.1265-428T>C rs373799308
NM_182710.3(KAT5):c.1265-465C>G rs886048488
NM_182710.3(KAT5):c.1265-544G>A rs886048487
NM_182710.3(KAT5):c.1265-575G>A rs886048486
NM_182710.3(KAT5):c.1265-583G>A rs4645936
NM_182710.3(KAT5):c.1265-585G>C rs886048485
NM_182710.3(KAT5):c.1265-613C>T rs886048484
NM_182710.3(KAT5):c.1265-638C>T rs886048483
NM_182710.3(KAT5):c.1265-724A>G rs535111
NM_182710.3(KAT5):c.1265-784G>A rs886048482
NM_182710.3(KAT5):c.1424+17C>T rs4645938
NM_182710.3(KAT5):c.1425-30T>C rs767097041
NM_182710.3(KAT5):c.1425-36dup rs142614068
NM_182710.3(KAT5):c.1473T>G (p.Thr491=) rs886048491
NM_182710.3(KAT5):c.1507-11C>T rs201326733
NM_182710.3(KAT5):c.1524A>C (p.Thr508=) rs886048492
NM_182710.3(KAT5):c.1537A>T (p.Ile513Phe) rs886048493

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