ClinVar Miner

List of variants reported as likely pathogenic for autoinflammatory syndrome of childhood

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 238
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00022
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_014639.4(SKIC3):c.642+1G>A rs538894487 0.00008
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00006
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864 0.00005
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) rs770689762 0.00004
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter) rs759511516 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter) rs768503878 0.00002
NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter) rs373796916 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) rs374974565 0.00001
NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys) rs747774101 0.00001
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670 0.00001
NM_006397.3(RNASEH2A):c.323+1G>T rs1388246689 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys) rs750250320 0.00001
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp) rs769075304 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015474.4(SAMHD1):c.509+1G>A rs1192315307 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_024570.4(RNASEH2B):c.437-1G>A rs777313709 0.00001
NM_024570.4(RNASEH2B):c.65-13G>A rs1176797481 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 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
NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
NC_000006.11:g.(?_32810848)_(32811339_?)del
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
NC_000020.10:g.(?_35532550)_(35563602_?)del
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NC_000020.10:g.(?_35555565)_(35555675_?)dup
NC_000020.10:g.(?_35559143)_(35563612_?)dup
NC_000020.10:g.(?_35563422)_(35563602_?)dup
NC_000020.10:g.(?_35569432)_(35569524_?)dup
NC_000020.11:g.(?_36927172)_(36927262_?)dup
NC_000020.11:g.(?_36930750)_(36930885_?)dup
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001111.5(ADAR):c.1602-2A>G
NM_001111.5(ADAR):c.1786-1G>C
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2763-1G>A
NM_001111.5(ADAR):c.2763-2A>G rs2101579172
NM_001111.5(ADAR):c.2886-1del rs1696896431
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.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.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.3364A>C (p.Lys1122Gln)
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs) rs1571110158
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter) rs2101642015
NM_001282225.2(ADA2):c.-47+2T>C
NM_001282225.2(ADA2):c.1081+1G>T rs1300843648
NM_001282225.2(ADA2):c.1082-2A>G
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) rs748893301
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282225.2(ADA2):c.1447A>C (p.Ser483Arg)
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001282225.2(ADA2):c.1471_1472dup (p.Asn491fs)
NM_001282225.2(ADA2):c.322+2T>A
NM_001282225.2(ADA2):c.323-2A>G
NM_001282225.2(ADA2):c.334C>T (p.His112Tyr) rs773226219
NM_001282225.2(ADA2):c.369G>A (p.Trp123Ter)
NM_001282225.2(ADA2):c.369G>T (p.Trp123Cys) rs772909795
NM_001282225.2(ADA2):c.548T>C (p.Leu183Pro)
NM_001282225.2(ADA2):c.559A>C (p.Thr187Pro) rs752890414
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs) rs766602945
NM_001282225.2(ADA2):c.754-2A>G rs2062118599
NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu) rs865858930
NM_001282225.2(ADA2):c.984G>C (p.Glu328Asp)
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_004159.5(PSMB8):c.107_108del (p.Pro36fs)
NM_004371.4(COPA):c.1742T>A (p.Leu581Gln)
NM_004371.4(COPA):c.715G>C (p.Ala239Pro) rs1557868211
NM_004371.4(COPA):c.725T>C (p.Val242Ala) rs2101847465
NM_006397.3(RNASEH2A):c.127+1G>C
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.199+1G>C
NM_006397.3(RNASEH2A):c.200-1G>T
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu) rs2145824951
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.323+1G>A rs1388246689
NM_006397.3(RNASEH2A):c.549+1G>A
NM_006397.3(RNASEH2A):c.549+1G>T
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.638-2A>G rs2145830162
NM_006397.3(RNASEH2A):c.704G>C (p.Arg235Pro)
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs) rs1403542725
NM_006929.5(SKIC2):c.1065-2A>G
NM_006929.5(SKIC2):c.1207del (p.Leu403fs)
NM_006929.5(SKIC2):c.1404-2A>G rs1772611373
NM_006929.5(SKIC2):c.1637del (p.Gly546fs) rs1772636752
NM_006929.5(SKIC2):c.1647+1G>A rs1772638226
NM_006929.5(SKIC2):c.1808del (p.Phe603fs)
NM_006929.5(SKIC2):c.2203-1G>A
NM_006929.5(SKIC2):c.2977dup (p.Met993fs) rs1582187890
NM_006929.5(SKIC2):c.3134C>A (p.Ser1045Ter) rs200271795
NM_006929.5(SKIC2):c.3160G>T (p.Glu1054Ter)
NM_007248.3(TREX1):c.1033_1050del rs1575295176
NM_014314.4(RIGI):c.1529A>T (p.Glu510Val) rs1587586052
NM_014639.4(SKIC3):c.1134+1G>T rs2112344385
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
NM_014639.4(SKIC3):c.1221+1G>C rs200085753
NM_014639.4(SKIC3):c.1757+1G>A rs570910902
NM_014639.4(SKIC3):c.2114+2T>A
NM_014639.4(SKIC3):c.2114+5G>A
NM_014639.4(SKIC3):c.2115-1G>A rs2112320552
NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter) rs755681347
NM_014639.4(SKIC3):c.2387del (p.Thr796fs)
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014639.4(SKIC3):c.2778+2T>G
NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter) rs2112308481
NM_014639.4(SKIC3):c.3055_3056dup (p.Asn1020fs)
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer) rs752052886
NM_014639.4(SKIC3):c.3301C>T (p.Gln1101Ter)
NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs) rs2112260281
NM_014639.4(SKIC3):c.4070del (p.Pro1357fs) rs1582849807
NM_014639.4(SKIC3):c.4108C>T (p.Gln1370Ter) rs2112237964
NM_014639.4(SKIC3):c.4175_4176dup (p.Val1393fs) rs1582849711
NM_014639.4(SKIC3):c.53_54del (p.Arg18fs)
NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter) rs1580193741
NM_014639.4(SKIC3):c.828del (p.Ile276fs) rs766378178
NM_015474.4(SAMHD1):c.1271-1G>C
NM_015474.4(SAMHD1):c.1271-2A>C
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
NM_015474.4(SAMHD1):c.1410+1G>A
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.1608+1G>A rs373731440
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=) rs1990238054
NM_015474.4(SAMHD1):c.1609-2A>G rs1700306908
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.349-1G>A rs1251155562
NM_015474.4(SAMHD1):c.349-2A>T rs2146137671
NM_015474.4(SAMHD1):c.625+1G>A rs1601141002
NM_015474.4(SAMHD1):c.626-1G>C rs2146127849
NM_015474.4(SAMHD1):c.696+2T>C
NM_015474.4(SAMHD1):c.697-1G>T rs2146119643
NM_015474.4(SAMHD1):c.697-2A>G
NM_015474.4(SAMHD1):c.852+1G>A
NM_015474.4(SAMHD1):c.852+1G>T rs780504624
NM_015474.4(SAMHD1):c.853-1G>C
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
NM_015474.4(SAMHD1):c.953+1G>A rs2146117027
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
NM_017414.4(USP18):c.1073+1G>A rs1602534094
NM_017414.4(USP18):c.652C>T (p.Gln218Ter) rs1085307118
NM_017414.4(USP18):c.891+1G>T
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu) rs587777446
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807
NM_022168.4(IFIH1):c.2465G>C (p.Arg822Pro)
NM_022168.4(IFIH1):c.2472A>C (p.Arg824Ser)
NM_022168.4(IFIH1):c.454-1G>A
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro) rs923064561
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_024570.4(RNASEH2B):c.245-2A>C
NM_024570.4(RNASEH2B):c.245-2A>G
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_024570.4(RNASEH2B):c.322-2A>T
NM_024570.4(RNASEH2B):c.322-3C>G
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.4(RNASEH2B):c.436+1G>A rs80087649
NM_024570.4(RNASEH2B):c.510+1del rs1593470515
NM_024570.4(RNASEH2B):c.511-1G>A
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.617-2A>G
NM_024570.4(RNASEH2B):c.64+2_64+6del
NM_024570.4(RNASEH2B):c.65-1G>A
NM_024570.4(RNASEH2B):c.698+1G>C
NM_024570.4(RNASEH2B):c.742-1_742delinsAC
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met) rs772757667
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser) rs77834781
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys) rs1064793942
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.137dup (p.Ser46fs) rs2107255865
NM_033629.6(TREX1):c.143_144del (p.Pro48fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala)
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) rs757478752
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del) rs2107255387
NM_033629.6(TREX1):c.814del (p.Asp272fs) rs2107265386
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.858dup (p.Leu287fs) rs2107265977
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_138425.3(C12orf57):c.-277A>G rs781842057
NM_138425.3(C12orf57):c.-279C>G rs180837208
NM_148919.4(PSMB8):c.69_147+42del
NM_198282.4(STING1):c.614A>G (p.Asp205Gly)
NM_198282.4(STING1):c.616T>G (p.Cys206Gly)
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.