ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by OMIM

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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_002796.3(PSMB4):c.-9G>A rs200946642 0.00112
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_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter) rs200818962 0.00011
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met) rs748082671 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_001282225.2(ADA2):c.752C>T (p.Pro251Leu) rs148936893 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_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_198282.4(STING1):c.463G>A (p.Val155Met) rs587777610 0.00003
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) rs587777241 0.00002
NM_004371.4(COPA):c.3172C>T (p.Arg1058Cys) rs772182530 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006929.5(SKIC2):c.848G>A (p.Trp283Ter) rs751026211 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) rs775440641 0.00001
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670 0.00001
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) rs387906671 0.00001
NM_004371.4(COPA):c.698G>A (p.Arg233His) rs794727993 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro) rs121434520 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NC_000020.11:g.36948745_36957728del
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs) rs398122898
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter) rs768943773
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.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser) rs777618863
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282225.2(ADA2):c.326C>A (p.Ala109Asp) rs587777240
NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del) rs2123699776
NM_001282225.2(ADA2):c.791G>C (p.Trp264Ser) rs587777242
NM_001330360.2(POLA1):c.1393-354A>G rs869312979
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile) rs387906668
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg) rs781199182
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) rs387906669
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_001611.5(ACP5):c.816dup (p.Lys273fs) rs879255600
NM_002788.4(PSMA3):c.404+2T>C rs1555352516
NM_002788.4(PSMA3):c.697_699del (p.Arg233del) rs1555353410
NM_002796.3(PSMB4):c.44dup (p.Pro16fs) rs1235715459
NM_002796.3(PSMB4):c.636_644del (p.Asp212_Val214del) rs1553209362
NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter) rs1553209373
NM_002800.5(PSMB9):c.467G>A (p.Gly156Asp) rs2127399518
NM_002801.4(PSMB10):c.247dup (p.Cys83fs)
NM_002801.4(PSMB10):c.40_42del (p.Phe14del)
NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser) rs2058265858
NM_002801.4(PSMB10):c.500G>A (p.Gly167Asp)
NM_002801.4(PSMB10):c.710+1G>C
NM_004371.4(COPA):c.3038G>C (p.Cys1013Ser)
NM_004371.4(COPA):c.690G>T (p.Lys230Asn) rs864309710
NM_004371.4(COPA):c.721G>A (p.Glu241Lys) rs794727995
NM_004371.4(COPA):c.728A>G (p.Asp243Gly) rs794727994
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly) rs1582171003
NM_006929.5(SKIC2):c.1635_1636insA (p.Gly546fs) rs1562659544
NM_006929.5(SKIC2):c.1891G>A (p.Gly631Ser)
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del) rs1582192007
NM_014314.4(RIGI):c.1118A>C (p.Glu373Ala) rs786204847
NM_014314.4(RIGI):c.803G>T (p.Cys268Phe) rs786204848
NM_014639.4(SKIC3):c.1632+1del rs1060499527
NM_014639.4(SKIC3):c.2251C>T (p.Gln751Ter) rs387907148
NM_014639.4(SKIC3):c.2515+1G>C rs1060499528
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter) rs534237033
NM_014639.4(SKIC3):c.4102C>T (p.Gln1368Ter)
NM_014639.4(SKIC3):c.439C>T (p.Gln147Ter) rs387907147
NM_014639.4(SKIC3):c.4620+1G>C rs370373017
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_015932.6(POMP):c.334_335del (p.Ile112fs) rs1555257073
NM_015932.6(POMP):c.340_344dup (p.Glu115fs) rs1555257075
NM_015932.6(POMP):c.342_348delinsACC (p.Phe114fs) rs1555257076
NM_017414.4(USP18):c.1073+1G>A rs1602534094
NM_017414.4(USP18):c.652C>T (p.Gln218Ter) rs1085307118
NM_020232.5(PSMG2):c.666_667del (p.Tyr223fs) rs2040458488
NM_020232.5(PSMG2):c.675T>G (p.Asn225Lys) rs1323730269
NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly) rs587777447
NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe) rs587777576
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1354G>A (p.Ala452Thr) rs587777575
NM_022168.4(IFIH1):c.1465G>A (p.Ala489Thr) rs1576226604
NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg) rs672601336
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys) rs587777448
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2439A>T (p.Glu813Asp) rs1559810905
NM_022168.4(IFIH1):c.992C>G (p.Thr331Arg) rs1576229572
NM_022168.4(IFIH1):c.992C>T (p.Thr331Ile) rs1576229572
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile) rs75146158
NM_033629.6(TREX1):c.581del (p.Ser194fs) rs1575293518
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.703_706dup (p.Thr236fs) rs1560113283
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT rs1255543147
NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter)
NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln) rs1554239543
NM_148919.4(PSMB8):c.352T>C (p.Ser118Pro)
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter) rs146254972
NM_148919.4(PSMB8):c.602G>T (p.Gly201Val) rs387906680
NM_173491.4(LSM11):c.631G>A (p.Gly211Ser) rs2113077087
NM_198282.4(STING1):c.439G>C (p.Val147Leu) rs587777611
NM_198282.4(STING1):c.461A>G (p.Asn154Ser) rs587777609
NR_023317.1(RNU7-1):n.28C>T rs180837208
NR_023317.1(RNU7-1):n.35G>A rs1055698058
NR_023317.1(RNU7-1):n.41T>G rs782444004
NR_023317.1(RNU7-1):n.51C>T rs139594532
NR_023317.1:n.34_50delins25
SKIC3, IVS28AS, G-A, -2
USP18, 3-PRIME DEL

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.