ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by Genome-Nilou Lab

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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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_002796.3(PSMB4):c.495-40T>C rs2495391 0.97364
NM_015474.4(SAMHD1):c.208+158A>G rs6030389 0.90232
NM_198282.4(STING1):c.695A>G (p.His232Arg) rs1131769 0.87015
NM_006929.5(SKIC2):c.3201T>C (p.Tyr1067=) rs410851 0.79487
NM_006929.5(SKIC2):c.545-19T>C rs419788 0.77931
NM_006929.5(SKIC2):c.640A>C (p.Met214Leu) rs437179 0.77931
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_002796.3(PSMB4):c.75G>A (p.Pro25=) rs7172 0.64309
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) rs2229857 0.61729
NM_198282.4(STING1):c.144G>C (p.Val48=) rs7447927 0.52424
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) rs1990760 0.44895
NM_015474.4(SAMHD1):c.276-105C>A rs6030312 0.44115
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_001111.5(ADAR):c.3443+8G>A rs9427094 0.40966
NM_014314.4(RIGI):c.2400A>C (p.Val800=) rs3205166 0.34612
NM_001111.5(ADAR):c.2682G>A (p.Val894=) rs1127309 0.29372
NM_001111.5(ADAR):c.15+10G>T rs58655370 0.27999
NM_014639.4(SKIC3):c.1309C>G (p.Leu437Val) rs17084873 0.23217
NM_014639.4(SKIC3):c.3888G>T (p.Arg1296Ser) rs2303650 0.22528
NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr) rs4603 0.15159
NM_006929.5(SKIC2):c.1972-42T>C rs492899 0.15070
NM_014314.4(RIGI):c.1740T>A (p.Asp580Glu) rs17217280 0.10366
NM_014314.4(RIGI):c.2337+11G>A rs45589431 0.10215
NM_001611.5(ACP5):c.442G>A (p.Val148Met) rs2305799 0.09611
NM_001611.5(ACP5):c.225C>T (p.Phe75=) rs62638747 0.09420
NM_001611.5(ACP5):c.598G>A (p.Val200Met) rs2229531 0.08684
NM_006929.5(SKIC2):c.1200A>G (p.Thr400=) rs2734331 0.03599
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe) rs34154757 0.00235
NM_014314.4(RIGI):c.1059C>T (p.Asn353=) rs45471397 0.00207
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.2598C>G (p.Arg866=) rs749389266 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.2548C>T (p.Arg850Trp) rs762568334 0.00001
NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln) rs750048114 0.00001
NM_001111.5(ADAR):c.2669-9C>T rs777184958 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.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.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.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys) rs756241513
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
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.2565_2568del (p.Asn857fs) rs1180888940
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln) rs1571045177
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly) rs1557887436
NM_002800.5(PSMB9):c.179G>A (p.Arg60His) rs17587
NM_014314.4(RIGI):c.1376-21dup rs71302893
NM_014314.4(RIGI):c.1481-21dup rs71504272
NM_014639.4(SKIC3):c.3342-37del rs35823895

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