ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (20):
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ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly) rs1466731 0.99604
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=) rs35416748 0.00984
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208 0.00826
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089 0.00240
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val) rs147000317 0.00228
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_001111.5(ADAR):c.1935-19G>A rs200651742 0.00101
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
NM_006397.3(RNASEH2A):c.374T>C (p.Ile125Thr) rs150008398 0.00041
NM_022168.4(IFIH1):c.2304+3A>G rs376806735 0.00027
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944 0.00020
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr) rs551573692 0.00013
NM_001111.5(ADAR):c.222G>A (p.Arg74=) rs150423721 0.00010
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys) rs180843163 0.00009
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913 0.00009
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715 0.00009
NM_006397.3(RNASEH2A):c.292C>G (p.Pro98Ala) rs767046465 0.00006
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His) rs374202040 0.00006
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met) rs370225385 0.00005
NM_001111.5(ADAR):c.2598C>G (p.Arg866=) rs749389266 0.00004
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn) rs751417093 0.00004
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu) rs774773395 0.00004
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) rs775075513 0.00004
NM_001111.5(ADAR):c.164C>T (p.Pro55Leu) rs187076847 0.00003
NM_006397.3(RNASEH2A):c.427G>A (p.Val143Ile) rs1033081366 0.00003
NM_006397.3(RNASEH2A):c.715C>T (p.Arg239Cys) rs372667206 0.00003
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345 0.00003
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079 0.00003
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter) rs201193151 0.00003
NM_022168.4(IFIH1):c.2305-2A>G rs199696786 0.00003
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile) rs747418036 0.00002
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 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.1049C>T (p.Pro350Leu) rs763695856 0.00001
NM_001111.5(ADAR):c.1062T>G (p.His354Gln) rs767103774 0.00001
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549 0.00001
NM_001111.5(ADAR):c.487G>A (p.Gly163Arg) rs762094056 0.00001
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=) rs140157384 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.635A>G (p.Asn212Ser) rs377244188
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_022168.4(IFIH1):c.1095+1G>A rs140125523
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) rs779192156
NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.2045-1G>T rs748813106
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs) rs745948096
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2454+1G>T rs778780074
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568
NM_022168.4(IFIH1):c.875-11A>C rs186664431
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser) rs148186114
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val) rs771823743
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) rs1433877282
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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