ClinVar Miner

List of variants in gene ADAR studied for Aicardi-Goutieres syndrome 6

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.78G>A (p.Arg26=) rs1802645 0.99723
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly) rs1466731 0.99604
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) rs2229857 0.61729
NM_001111.5(ADAR):c.3443+8G>A rs9427094 0.40966
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe) rs34154757 0.00235
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00135
NM_001111.5(ADAR):c.2886-11_2886-10del rs557801982 0.00128
NM_001111.5(ADAR):c.1935-19G>A rs200651742 0.00101
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055 0.00042
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561 0.00039
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884 0.00022
NM_001111.5(ADAR):c.2496+9G>A rs199698434 0.00017
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106 0.00014
NM_001111.5(ADAR):c.2497-15C>T rs113249520 0.00014
NM_001111.5(ADAR):c.1934+8C>T rs376025865 0.00013
NM_001111.5(ADAR):c.222G>A (p.Arg74=) rs150423721 0.00010
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala) rs139471471 0.00010
NM_001111.5(ADAR):c.1851C>A (p.Thr617=) rs764879657 0.00009
NM_001111.5(ADAR):c.1741T>C (p.Ser581Pro) rs142884797 0.00006
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg) rs373667326 0.00006
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile) rs145849344 0.00006
NM_001111.5(ADAR):c.57C>T (p.Gly19=) rs137983302 0.00006
NM_001111.5(ADAR):c.983G>A (p.Arg328Gln) rs371476324 0.00006
NM_001111.5(ADAR):c.1400G>A (p.Arg467His) rs192121167 0.00005
NM_001111.5(ADAR):c.1934+12G>A rs776357782 0.00005
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met) rs367899281 0.00005
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala) rs556625861 0.00004
NM_001111.5(ADAR):c.2319C>T (p.Cys773=) rs750666914 0.00004
NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser) rs940393676 0.00003
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156 0.00003
NM_001111.5(ADAR):c.164C>T (p.Pro55Leu) rs187076847 0.00003
NM_001111.5(ADAR):c.642C>T (p.Asp214=) rs781005907 0.00003
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val) rs367868255 0.00002
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu) rs373564780 0.00002
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile) rs747418036 0.00002
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser) rs779939725 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.1097A>G (p.Lys366Arg) rs770795921 0.00001
NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr) rs1190740301 0.00001
NM_001111.5(ADAR):c.1207A>G (p.Met403Val) rs762748379 0.00001
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549 0.00001
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn) rs754538298 0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001111.5(ADAR):c.2496+8C>T rs770464278 0.00001
NM_001111.5(ADAR):c.2920A>G (p.Lys974Glu) rs886045339 0.00001
NM_001111.5(ADAR):c.2960G>A (p.Arg987His) rs760200045 0.00001
NM_001111.5(ADAR):c.3095G>A (p.Arg1032His) rs773129591 0.00001
NM_001111.5(ADAR):c.3433A>G (p.Thr1145Ala) rs200084726 0.00001
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu) rs1463382499 0.00001
NM_001111.5(ADAR):c.434A>G (p.Lys145Arg) rs763767761 0.00001
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn) rs763575197
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs) rs398122898
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn) rs759763367
NM_001111.5(ADAR):c.1402G>T (p.Ala468Ser) rs761708272
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter) rs768943773
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys) rs756241513
NM_001111.5(ADAR):c.2224G>A (p.Ala742Thr) rs2101619298
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.2496+35C>G rs7532276
NM_001111.5(ADAR):c.2763-2A>G rs2101579172
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg) rs1697938546
NM_001111.5(ADAR):c.3202+1G>A rs2101565765
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) rs1553207540
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs) rs2101563488
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln) rs1571045177
NM_001111.5(ADAR):c.578C>T (p.Pro193Leu) rs1697917766
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs) rs1571110158
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter) rs2101642015
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly) rs1557887436

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