ClinVar Miner

Variants studied for infectious disease

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity established risk allele pathogenic, low penetrance protective risk factor uncertain risk allele not provided total
456 293 4194 4361 323 4 3 1 2 1 48 16 21 9597

Gene and significance breakdown #

Total genes and gene combinations: 118
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity established risk allele pathogenic, low penetrance protective risk factor uncertain risk allele not provided total
RTEL1, RTEL1-TNFRSF6B 131 76 1185 1738 102 0 0 0 0 0 0 0 1 3206
TERT 77 40 1090 1230 49 1 0 0 0 0 0 0 7 2476
PARN 42 28 377 320 25 0 0 0 0 0 0 0 1 788
TLR3 0 1 304 145 21 0 0 0 0 0 9 0 0 472
TICAM1 0 0 203 163 11 0 0 0 0 0 4 0 0 378
IRF8 2 0 181 160 15 0 0 0 0 0 0 0 0 354
UNC93B1 5 3 149 173 22 0 0 0 0 0 2 0 1 351
TRAF3 3 0 144 169 22 0 0 0 0 0 1 0 0 337
CPT2 31 59 117 23 6 0 0 0 0 0 1 0 0 222
LOC110806263, TERT 9 1 85 106 3 0 0 0 0 0 0 0 4 206
SLC4A1 8 8 120 18 0 0 0 0 0 0 0 0 0 154
PRNP 26 10 43 39 11 0 0 0 2 0 0 0 5 117
HBB, LOC106099062, LOC107133510 47 16 17 2 1 0 0 0 0 0 0 0 0 79
G6PD 29 22 1 0 0 0 0 0 0 0 0 0 0 46
LOC130006235, UNC93B1 1 0 18 16 1 0 0 0 0 0 0 0 1 36
LOC126862065, TRAF3 0 0 18 16 1 0 0 0 0 0 0 0 0 35
SFTPC 0 2 8 12 13 0 0 0 0 0 0 0 0 34
HBB, LOC107133510, LOC110006319 10 6 13 1 0 0 0 0 0 0 0 0 0 30
CPT2, LOC129930561 5 5 10 3 0 0 0 0 0 0 0 0 0 21
MUC5B 0 0 13 4 2 0 0 0 0 0 1 0 0 20
RTEL1 9 5 5 0 0 0 0 0 0 0 0 0 0 19
SFTPA2 5 3 6 0 4 0 0 0 0 0 0 0 0 17
IRF8, LOC130059663 1 0 6 8 1 0 0 0 0 0 0 0 0 16
ABCA3 0 3 12 0 0 0 0 0 0 0 0 0 0 15
CD36 3 5 1 1 0 0 0 0 0 0 0 0 0 10
BMP1, SFTPC 0 0 0 1 8 0 0 0 0 0 0 0 0 9
IRF3 0 0 4 1 0 0 0 0 0 0 3 0 0 7
LOC130006234, UNC93B1 1 0 4 1 0 0 0 0 0 0 0 0 0 6
TLR2 0 0 4 1 0 0 0 0 0 0 1 0 0 6
IRF8, MIR6774 0 0 1 3 1 0 0 0 0 0 0 0 0 5
BMP1, LOC129999976, SFTPC 0 0 1 1 2 0 0 0 0 0 0 0 0 4
CR1 0 0 3 1 0 0 0 0 0 0 0 0 0 4
ICAM1 0 0 4 0 0 0 0 0 0 0 0 0 0 4
NKX2-1, SFTA3 0 0 4 0 0 0 0 0 0 0 0 0 0 4
AHRR, BRD9, CEP72, EXOC3, NKD2, PDCD6, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 2 0 1 0 0 0 0 0 0 0 0 0 0 3
CLEC7A 0 0 1 2 0 0 0 0 0 0 1 0 0 3
IRF8, LOC130059662 0 0 1 2 0 0 0 0 0 0 0 0 0 3
LOC110806263, LOC110806264, LOC123493259, TERT 0 0 3 0 0 0 0 0 0 0 0 0 0 3
RTEL1, TNFRSF6B 1 0 2 0 0 0 0 0 0 0 0 0 0 3
TNFSF15 0 0 0 0 0 0 1 0 0 0 0 2 0 3
CD209 0 0 2 0 0 0 0 0 0 0 0 0 0 2
FCGR2A 0 0 2 0 0 0 0 0 0 0 0 0 0 2
IFIH1 0 0 0 0 0 0 0 0 0 0 2 0 0 2
IFNAR2, IFNAR2-IL10RB 0 0 0 0 0 0 0 0 0 0 2 0 0 2
IL10, IL19 0 0 0 0 0 0 0 0 0 0 0 2 0 2
LOC110806264, TERT 0 0 0 1 1 0 0 0 0 0 0 0 0 2
LRRK2 0 0 0 0 0 0 1 0 0 0 0 1 0 2
NLRP12 0 0 0 0 0 0 0 0 0 0 2 0 0 2
NOD2 0 0 0 0 0 0 1 0 0 0 0 1 0 2
RIPK2 0 0 0 0 0 0 0 0 0 0 0 2 0 2
TLR1 0 0 0 0 0 0 0 0 0 0 1 1 0 2
TLR6 0 0 0 0 0 0 0 0 0 1 1 0 0 2
TOLLIP 0 0 2 0 0 1 0 0 0 0 0 0 0 2
ADAM33, ADISSP, ADRA1D, AP5S1, ATRN, AVP, BMP2, C20orf141, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, DDRGK1, DNAAF9, EBF4, FASTKD5, FERMT1, GFRA4, GNRH2, GPCPD1, HSPA12B, IDH3B, ITPA, LRRN4, LZTS3, MAVS, MCM8, MIR103A2, MIR1292, MRPS26, NOP56, OXT, PANK2, PCED1A, PCNA, PDYN, PRND, PRNP, PROKR2, PTPRA, RASSF2, RNF24, SHLD1, SIGLEC1, SLC23A2, SLC4A11, SMOX, SNRPB, SPEF1, STK35, TGM3, TGM6, TMC2, TMEM230, TMEM239, TRMT6, UBOX5, VPS16, ZNF343 0 0 1 0 0 0 0 0 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 0 0 0 0 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CKB, CLBA1, COA8, EIF5, EXOC3L4, GPR132, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, XRCC3, ZBTB42, ZFYVE21 0 0 1 0 0 0 0 0 0 0 0 0 0 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 0 0 1 0 0 0 0 0 0 0 0 0 0 1
AMN, LOC130056550, LOC130056551, LOC130056552, LOC130056553, TRAF3 0 0 1 0 0 0 0 0 0 0 0 0 0 1
ANKRD37, CCDC110, CFAP96, CFAP97, CYP4V2, F11, FAM149A, FAT1, KLKB1, LRP2BP, MTNR1A, PDLIM3, SLC25A4, SNX25, SORBS2, TLR3, UFSP2 0 0 1 0 0 0 0 0 0 0 0 0 0 1
BPTF 0 0 0 0 0 0 0 1 0 0 0 0 0 1
BRD9, CEP72, CLPTM1L, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CCDC122 0 0 0 0 0 0 0 0 0 0 0 1 0 1
CCDC122, LACC1 0 0 0 0 0 0 0 0 0 0 0 1 0 1
CD163 0 0 0 0 0 0 0 0 0 0 1 0 0 1
CD84, LOC105371468 0 0 0 0 0 0 0 0 0 0 1 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 0 0 1 0 0 0 0 0 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3, TNFRSF6B 1 0 0 0 0 0 0 0 0 0 0 0 0 1
CISH, LOC129936806, MAPKAPK3 0 0 0 0 0 0 0 0 0 0 1 0 0 1
CLEC1A 0 0 0 0 0 0 0 0 0 0 1 0 0 1
CLPTM1L, SLC6A18, SLC6A19, SLC6A3, TERT 0 0 1 0 0 0 0 0 0 0 0 0 0 1
CLPTM1L, SLC6A3, TERT 0 0 1 0 0 0 0 0 0 0 0 0 0 1
CLPTM1L, TERT 0 0 1 0 0 0 0 0 0 0 0 0 0 1
CTC1 0 0 1 0 0 0 0 0 0 0 0 0 0 1
CYLD, NOD2 0 0 0 0 0 0 0 0 0 0 0 1 0 1
DSP 0 0 0 0 0 1 0 0 0 0 0 0 0 1
DTNBP1 0 0 1 0 0 0 0 0 0 0 0 0 0 1
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 0 0 0 0 0 0 0 0 0 1
FAM13A 0 0 1 0 0 1 0 0 0 0 0 0 0 1
FENDRR, FOXC2, FOXF1, IRF8, LINC01082, MTHFSD 0 0 1 0 0 0 0 0 0 0 0 0 0 1
G6PD, IKBKG 1 0 0 0 0 0 0 0 0 0 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC129929052 0 0 1 0 0 0 0 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 0 0 0 0 0 0 0 1
HPS4 0 0 1 0 0 0 0 0 0 0 0 0 0 1
ICAM1, LIMASI 0 0 1 0 0 0 0 0 0 0 0 0 0 1
IFI44 0 0 0 0 0 0 0 0 0 0 1 0 0 1
IFI44L 0 0 0 0 0 0 0 0 0 0 1 0 0 1
IFNA21 0 0 0 0 0 0 0 0 0 0 1 0 0 1
IFNA4 0 0 0 0 0 0 0 0 0 0 1 0 0 1
IFNA6 0 0 0 0 0 0 0 0 0 0 1 0 0 1
IFNB1 0 0 0 0 0 0 0 0 0 0 1 0 0 1
IL1RN 0 0 1 0 0 0 0 0 0 0 0 0 0 1
IL22RA2 0 0 0 0 0 0 0 0 0 0 1 0 0 1
IL6, LOC126859963 0 0 0 0 0 0 0 0 0 0 1 0 0 1
IRAK3 0 0 0 0 0 0 0 0 0 0 1 0 0 1
IRF8, LOC130059659 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LACC1 0 0 0 0 0 0 0 0 0 0 0 1 0 1
LAMA3 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LOC110806306, TERC 1 0 0 0 0 0 0 0 0 0 0 0 0 1
LOC128772425, LOC128772426, RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 0 0 0 0 0 0 0 1
LY9 0 0 0 0 0 0 0 0 0 0 1 0 0 1
MMP1 0 0 1 0 0 0 0 0 0 0 0 0 0 1
MMP19 0 0 1 0 0 0 0 0 0 0 0 0 0 1
MRC1 0 0 0 0 0 0 0 0 0 0 0 1 0 1
NKD2, SLC12A7, SLC6A18, SLC6A19, TERT, TRIP13 0 0 1 0 0 0 0 0 0 0 0 0 0 1
NKX2-1 0 0 1 0 0 0 0 0 0 0 0 0 0 1
NLRP2 0 0 0 0 0 0 0 0 0 0 1 0 0 1
NOS2 0 0 1 0 0 0 0 0 0 0 0 0 0 1
PARL 0 0 0 0 0 0 0 0 0 0 0 1 0 1
PINK1 0 0 0 0 0 0 0 0 0 0 0 1 0 1
PRKN 1 0 0 0 0 0 0 0 0 0 0 0 0 1
RAB27A 0 0 0 0 0 0 0 0 0 0 1 0 0 1
RTKN2 0 0 1 0 0 0 0 0 0 0 0 0 0 1
SCN8A 1 0 0 0 0 0 0 0 0 0 0 0 0 1
SFTPA1 0 0 1 0 0 0 0 0 0 0 0 0 0 1
SLC6A18, SLC6A19, TERT 0 0 1 0 0 0 0 0 0 0 0 0 0 1
TBK1 0 0 0 0 0 0 0 0 0 0 0 0 1 1
TIRAP 0 0 0 0 1 0 0 0 0 0 0 0 0 1
TRIM69 0 0 0 0 0 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity established risk allele pathogenic, low penetrance protective risk factor uncertain risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 268 126 3755 4281 274 0 0 0 2 0 0 0 0 8706
Fulgent Genetics, Fulgent Genetics 102 98 409 59 7 0 0 0 0 0 0 0 0 675
Genome-Nilou Lab 0 0 75 25 33 0 0 0 0 0 0 0 0 133
Baylor Genetics 58 62 6 0 0 0 0 0 0 0 0 0 0 126
OMIM 45 0 4 0 0 0 0 0 0 0 24 0 0 73
Illumina Laboratory Services, Illumina 0 0 8 15 23 0 0 0 0 0 0 0 0 46
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 28 2 1 0 0 0 0 0 0 0 0 34
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 27 0 0 0 0 0 0 0 0 0 0 29
Johns Hopkins Genomics, Johns Hopkins University 3 1 23 1 0 0 0 0 0 0 0 0 0 28
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 0 0 0 0 0 0 24 0 0 24
Alder lab, University of Pittsburgh 1 3 20 0 0 0 0 0 0 0 0 0 0 24
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta 0 0 0 0 0 0 3 0 0 1 0 16 0 20
GeneReviews 3 0 0 0 0 0 0 0 0 0 0 0 15 18
Juno Genomics, Hangzhou Juno Genomics, Inc 13 4 1 0 0 0 0 0 0 0 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 10 2 5 0 0 0 0 0 0 0 0 0 0 17
Mendelics 1 1 5 3 4 0 0 0 0 0 0 0 0 14
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 2 2 8 0 0 0 0 0 0 0 0 0 0 12
University of Washington Center for Mendelian Genomics, University of Washington 9 0 0 0 0 0 0 0 0 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 0 0 0 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 0 0 0 0 0 0 0 0 0 0 6
Division of Human Genetics, Children's Hospital of Philadelphia 3 2 0 1 0 0 0 0 0 0 0 0 0 6
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 3 0 0 4 0 0 0 0 0 0 0 5
Godley laboratory, The University of Chicago 2 2 1 0 0 0 0 0 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 4 0 0 0 0 0 0 0 0 0 0 0 4
3billion 1 1 2 0 0 0 0 0 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 0 0 4 4
Centogene AG - the Rare Disease Company 0 3 0 0 0 0 0 0 0 0 0 0 0 3
Undiagnosed Diseases Network, NIH 0 1 2 0 0 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 0 0 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 1 0 0 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 0 0 2 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 0 0 0 0 0 0 0 2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 0 2 0 0 0 0 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 0 0 0 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 0 0 0 0 1 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 0 0 0 0 0 0 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 0 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 0 0 0 0 0 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 0 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 0 0 0 0 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Department of Hematology, Zigong First People's Hospital 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 0 0 0 0 0 1
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research 0 0 1 0 0 0 0 0 0 0 0 0 0 1

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