ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.*1699G>C rs149989742 0.00233
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_032193.4(RNASEH2C):c.*1594G>A rs761492773 0.00113
NM_032193.4(RNASEH2C):c.*317C>T rs549238084 0.00110
NM_032193.4(RNASEH2C):c.*456G>A rs561937926 0.00053
NM_032193.4(RNASEH2C):c.*363C>T rs547082810 0.00040
NM_032193.4(RNASEH2C):c.*1737C>T rs886048487 0.00029
NM_032193.4(RNASEH2C):c.*1977C>T rs886048482 0.00018
NM_032193.4(RNASEH2C):c.*385C>A rs757672652 0.00017
NM_032193.4(RNASEH2C):c.*440G>C rs544558074 0.00016
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526 0.00016
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met) rs772347588 0.00016
NM_032193.4(RNASEH2C):c.*747G>A rs201326733 0.00015
NM_032193.4(RNASEH2C):c.*1658G>C rs886048488 0.00013
NM_032193.4(RNASEH2C):c.358A>G (p.Ile120Val) rs145783593 0.00008
NM_032193.3(RNASEH2C):c.-186A>C rs931060333 0.00007
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258 0.00006
NM_032193.4(RNASEH2C):c.*1532G>A rs376966597 0.00005
NM_032193.4(RNASEH2C):c.*541C>T rs756513194 0.00005
NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn) rs773527127 0.00004
NM_032193.4(RNASEH2C):c.175C>A (p.Leu59Ile) rs764887792 0.00004
NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe) rs779295406 0.00004
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu) rs774773395 0.00004
NM_032193.4(RNASEH2C):c.*29A>G rs886048499 0.00003
NM_032193.3(RNASEH2C):c.-139G>T rs928515689 0.00002
NM_032193.4(RNASEH2C):c.*1504G>A rs886048489 0.00002
NM_032193.4(RNASEH2C):c.*1778C>G rs886048485 0.00002
NM_032193.4(RNASEH2C):c.*223G>A rs886048497 0.00002
NM_032193.4(RNASEH2C):c.*940A>G rs767097041 0.00002
NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys) rs1453336065 0.00002
NM_032193.4(RNASEH2C):c.169G>A (p.Glu57Lys) rs769127379 0.00002
NM_032193.4(RNASEH2C):c.348+6C>T rs779293116 0.00002
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp) rs759118175 0.00002
NM_032193.4(RNASEH2C):c.*178C>G rs3180585 0.00001
NM_032193.4(RNASEH2C):c.*27C>G rs886048500 0.00001
NM_032193.4(RNASEH2C):c.*374T>G rs533143132 0.00001
NM_032193.4(RNASEH2C):c.*719T>G rs886048492 0.00001
NM_032193.4(RNASEH2C):c.104A>G (p.Glu35Gly) rs374512840 0.00001
NM_032193.4(RNASEH2C):c.10G>C (p.Gly4Arg) rs1857363681 0.00001
NM_032193.4(RNASEH2C):c.151G>A (p.Ala51Thr) rs912731829 0.00001
NM_032193.4(RNASEH2C):c.15C>A (p.Asp5Glu) rs1310807864 0.00001
NM_032193.4(RNASEH2C):c.173-14G>A rs886048502 0.00001
NM_032193.4(RNASEH2C):c.20C>T (p.Ala7Val) rs767413437 0.00001
NM_032193.4(RNASEH2C):c.221C>T (p.Ala74Val) rs1284081456 0.00001
NM_032193.4(RNASEH2C):c.223G>A (p.Val75Met) rs1857352830 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 0.00001
NM_032193.4(RNASEH2C):c.348+1G>A rs747248530 0.00001
NM_032193.4(RNASEH2C):c.371C>T (p.Ala124Val) rs751248914 0.00001
NM_032193.4(RNASEH2C):c.374A>G (p.Asn125Ser) rs143452727 0.00001
NM_032193.4(RNASEH2C):c.377T>G (p.Phe126Cys) rs1426277096 0.00001
NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn) rs781376271 0.00001
NM_032193.4(RNASEH2C):c.463G>A (p.Ala155Thr) rs757866333 0.00001
NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr) rs759118175 0.00001
NM_032193.4(RNASEH2C):c.491A>G (p.Asp164Gly) rs771823743 0.00001
NM_032193.4(RNASEH2C):c.53C>T (p.Ser18Phe) rs1261921914 0.00001
NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile) rs1234973794 0.00001
NM_032193.4(RNASEH2C):c.98C>T (p.Pro33Leu) rs11557810 0.00001
NC_000011.10:g.65720153_65720165del
NC_000011.9:g.(?_64973914)_(70052579_?)dup
NC_000011.9:g.(?_65325080)_(65639825_?)del
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
NM_032193.4(RNASEH2C):c.*1217G>C rs886048490
NM_032193.4(RNASEH2C):c.*1378G>C rs746434462
NM_032193.4(RNASEH2C):c.*1768C>T rs886048486
NM_032193.4(RNASEH2C):c.*1806G>A rs886048484
NM_032193.4(RNASEH2C):c.*1831G>A rs886048483
NM_032193.4(RNASEH2C):c.*451C>T rs886048496
NM_032193.4(RNASEH2C):c.*532C>G rs886048495
NM_032193.4(RNASEH2C):c.*560C>T rs886048494
NM_032193.4(RNASEH2C):c.*706T>A rs886048493
NM_032193.4(RNASEH2C):c.*78A>G rs1857332269
NM_032193.4(RNASEH2C):c.*862A>C rs886048491
NM_032193.4(RNASEH2C):c.-27G>T rs549471118
NM_032193.4(RNASEH2C):c.101G>A (p.Cys34Tyr) rs1857361152
NM_032193.4(RNASEH2C):c.105G>C (p.Glu35Asp) rs759651650
NM_032193.4(RNASEH2C):c.10G>A (p.Gly4Ser) rs1857363681
NM_032193.4(RNASEH2C):c.110C>G (p.Ala37Gly)
NM_032193.4(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs)
NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg)
NM_032193.4(RNASEH2C):c.122C>T (p.Pro41Leu)
NM_032193.4(RNASEH2C):c.130G>C (p.Val44Leu)
NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)
NM_032193.4(RNASEH2C):c.136C>T (p.Arg46Cys) rs1194474428
NM_032193.4(RNASEH2C):c.137G>T (p.Arg46Leu) rs2135654103
NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu) rs1857359953
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val) rs1857359607
NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys)
NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg)
NM_032193.4(RNASEH2C):c.164G>T (p.Gly55Val) rs1233458293
NM_032193.4(RNASEH2C):c.166C>G (p.Pro56Ala) rs1857359394
NM_032193.4(RNASEH2C):c.172+5G>A rs781232402
NM_032193.4(RNASEH2C):c.173-4C>G rs886048501
NM_032193.4(RNASEH2C):c.175C>G (p.Leu59Val)
NM_032193.4(RNASEH2C):c.178G>A (p.Glu60Lys)
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.193G>A (p.Gly65Ser)
NM_032193.4(RNASEH2C):c.194G>A (p.Gly65Asp)
NM_032193.4(RNASEH2C):c.194G>T (p.Gly65Val)
NM_032193.4(RNASEH2C):c.196C>T (p.Arg66Cys) rs2135653318
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val) rs1427683229
NM_032193.4(RNASEH2C):c.223G>C (p.Val75Leu)
NM_032193.4(RNASEH2C):c.22G>C (p.Ala8Pro) rs2135654514
NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala)
NM_032193.4(RNASEH2C):c.235C>G (p.Leu79Val) rs1857352526
NM_032193.4(RNASEH2C):c.244T>C (p.Tyr82His)
NM_032193.4(RNASEH2C):c.245A>G (p.Tyr82Cys) rs2135653148
NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr)
NM_032193.4(RNASEH2C):c.254T>G (p.Val85Gly)
NM_032193.4(RNASEH2C):c.259G>A (p.Glu87Lys)
NM_032193.4(RNASEH2C):c.260A>G (p.Glu87Gly) rs939276490
NM_032193.4(RNASEH2C):c.261A>C (p.Glu87Asp) rs1857351791
NM_032193.4(RNASEH2C):c.264_268del (p.Lys89fs)
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.4(RNASEH2C):c.269A>C (p.Lys90Thr) rs772347588
NM_032193.4(RNASEH2C):c.271G>T (p.Val91Leu)
NM_032193.4(RNASEH2C):c.289G>A (p.Asp97Asn) rs771160923
NM_032193.4(RNASEH2C):c.292C>G (p.Pro98Ala) rs148186114
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser) rs148186114
NM_032193.4(RNASEH2C):c.297G>C (p.Leu99Phe) rs1390405064
NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg) rs766900205
NM_032193.4(RNASEH2C):c.307G>C (p.Gly103Arg)
NM_032193.4(RNASEH2C):c.311C>T (p.Thr104Ile) rs1318717066
NM_032193.4(RNASEH2C):c.316G>A (p.Asp106Asn) rs1379430577
NM_032193.4(RNASEH2C):c.31A>G (p.Arg11Gly) rs1857363170
NM_032193.4(RNASEH2C):c.322G>A (p.Glu108Lys)
NM_032193.4(RNASEH2C):c.322GAG[2] (p.Glu110del)
NM_032193.4(RNASEH2C):c.328G>A (p.Glu110Lys) rs759057632
NM_032193.4(RNASEH2C):c.328_329delinsCC (p.Glu110Pro)
NM_032193.4(RNASEH2C):c.32G>A (p.Arg11Lys)
NM_032193.4(RNASEH2C):c.332C>T (p.Pro111Leu) rs113396656
NM_032193.4(RNASEH2C):c.343G>A (p.Asp115Asn)
NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu) rs1314714026
NM_032193.4(RNASEH2C):c.349G>C (p.Asp117His)
NM_032193.4(RNASEH2C):c.355T>C (p.Phe119Leu) rs2135652511
NM_032193.4(RNASEH2C):c.35A>C (p.His12Pro) rs765558776
NM_032193.4(RNASEH2C):c.364G>A (p.Ala122Thr)
NM_032193.4(RNASEH2C):c.37del (p.Arg13fs)
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp) rs2135652409
NM_032193.4(RNASEH2C):c.400C>G (p.Leu134Val)
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)
NM_032193.4(RNASEH2C):c.419C>A (p.Pro140Gln)
NM_032193.4(RNASEH2C):c.425C>G (p.Ala142Gly) rs1857345402
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro) rs774773395
NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala)
NM_032193.4(RNASEH2C):c.439G>A (p.Ala147Thr) rs1388954201
NM_032193.4(RNASEH2C):c.43C>G (p.His15Asp) rs759644653
NM_032193.4(RNASEH2C):c.440C>T (p.Ala147Val) rs2135652251
NM_032193.4(RNASEH2C):c.446C>G (p.Thr149Ser)
NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser) rs78464826
NM_032193.4(RNASEH2C):c.452C>T (p.Pro151Leu) rs2135652204
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile) rs781376271
NM_032193.4(RNASEH2C):c.468+5G>A rs753880827
NM_032193.4(RNASEH2C):c.468+5G>C rs753880827
NM_032193.4(RNASEH2C):c.468+8G>A rs751767695
NM_032193.4(RNASEH2C):c.469-14_469-9del
NM_032193.4(RNASEH2C):c.470T>A (p.Ile157Asn)
NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)
NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys)
NM_032193.4(RNASEH2C):c.482T>C (p.Val161Ala) rs2135651271
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val) rs771823743
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys) rs749473518
NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser) rs1857362640
NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala)
NM_032193.4(RNASEH2C):c.70G>T (p.Ala24Ser) rs2135654326
NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)
NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val)

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