ClinVar Miner

Variants studied for type 2 diabetes mellitus

Included ClinVar conditions (37):
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 affects association association not found likely risk allele protective risk factor not provided total
159 172 525 249 93 1 5 1 7 2 4 4 1200

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found likely risk allele protective risk factor not provided total
ABCC8 86 100 71 30 4 0 1 0 0 0 0 0 283
WFS1 18 12 156 66 4 0 0 0 0 0 0 0 254
AKT2 1 0 46 58 13 0 0 0 0 0 0 0 114
HNF1A 5 6 42 16 4 0 0 0 0 0 0 1 73
KCNJ11 6 27 27 4 3 0 1 1 4 0 0 1 70
GCK 10 9 21 10 1 0 0 0 0 0 0 1 52
HNF4A 3 4 30 13 2 0 0 0 0 0 0 0 50
HNF1B 10 2 14 8 0 0 0 0 0 0 0 0 34
ENPP1 2 2 18 8 2 0 0 0 0 0 0 0 32
NEUROD1 1 0 23 5 0 0 0 0 0 0 0 0 29
PAX4 1 0 15 9 2 0 0 0 0 0 0 0 27
SLC2A2 5 1 12 6 2 1 0 0 0 0 0 0 27
RBPJ 0 0 6 0 17 0 0 0 0 0 0 0 23
PDX1 1 0 13 3 1 0 0 0 0 0 0 0 18
LIPC 1 1 9 1 0 0 0 0 0 0 0 0 12
RBPJL 0 0 0 0 8 0 0 0 0 0 2 0 10
HNF1B, LOC126862549 1 2 3 3 0 0 0 0 0 0 0 0 9
ABCC8, LOC110121471 1 2 0 4 1 0 0 0 0 0 0 0 8
IRS1 2 1 1 3 1 0 0 0 0 0 0 0 8
PPARG 2 1 1 0 1 0 3 0 0 0 0 0 8
C10orf67, PTF1A 0 0 0 0 5 0 0 0 0 0 0 0 5
PPP1R3A 1 0 1 0 3 0 0 0 0 0 0 0 5
PTF1A 0 0 0 0 5 0 0 0 0 0 0 0 5
RBPJL, SDC4 0 0 0 0 5 0 0 0 0 0 0 0 5
C12orf43, HNF1A 0 0 2 0 1 0 0 0 0 0 0 0 3
CDKAL1 0 0 2 0 0 0 0 0 0 0 0 1 3
INSR 1 0 2 0 0 0 0 0 0 0 0 0 3
SLC30A8 0 0 1 0 0 0 0 0 0 2 0 0 3
CD36 0 0 0 0 2 0 0 0 0 0 0 0 2
GPD2 1 0 1 0 0 0 0 0 0 0 0 0 2
INS, INS-IGF2 0 0 1 0 0 0 0 0 1 0 0 0 2
IRS2 0 0 0 0 0 0 0 0 0 0 2 0 2
MATN4, RBPJL 0 0 0 0 2 0 0 0 0 0 0 0 2
ABCC8, KCNJ11 0 0 0 0 1 0 0 0 0 0 0 0 1
ACADS 0 0 0 1 0 0 0 0 0 0 0 0 1
ACP7, ACTN4, AKT2, C19orf47, CAPN12, CCNP, CLC, DLL3, DYRK1B, ECH1, EID2, EID2B, FBL, FBXO17, FBXO27, FCGBP, GMFG, HIPK4, HNRNPL, IFNL1, IFNL2, IFNL3, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LRFN1, MAP3K10, MED29, MRPS12, NCCRP1, NFKBIB, PAF1, PAK4, PLD3, PLEKHG2, PRX, PSMC4, RINL, RPS16, SAMD4B, SARS2, SELENOV, SIRT2, SUPT5H, SYCN, TIMM50, TTC9B, ZFP36, ZNF546, ZNF780A, ZNF780B 0 0 1 0 0 0 0 0 0 0 0 0 1
CAPN10 0 0 1 0 0 0 0 0 0 0 0 0 1
CEL 0 0 1 0 0 0 0 0 0 0 0 0 1
GCGR 0 0 0 0 1 0 0 0 0 0 0 0 1
INS 0 0 0 1 0 0 0 0 0 0 0 0 1
INS, INS-IGF2, TH 0 0 0 0 1 0 0 0 0 0 0 0 1
KLF11 0 0 0 0 0 0 0 0 1 0 0 0 1
KSR2 0 0 1 0 0 0 0 0 0 0 0 0 1
LOC110121472, TCF7L2 0 0 0 0 0 0 0 0 1 0 0 0 1
LOC126807011, RBPJ 0 1 0 0 0 0 0 0 0 0 0 0 1
MAPK8IP1 0 0 1 0 0 0 0 0 0 0 0 0 1
RBPJL, SLPI 0 0 0 0 1 0 0 0 0 0 0 0 1
SLC2A4 0 0 1 0 0 0 0 0 0 0 0 0 1
TCF7L2 0 0 1 0 0 0 0 0 0 0 0 0 1
WRN 0 1 0 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association association not found likely risk allele protective risk factor not provided total
Fulgent Genetics, Fulgent Genetics 59 44 365 185 11 0 0 0 0 0 0 0 664
Baylor Genetics 88 117 11 0 0 0 0 0 0 0 0 0 216
Labcorp Genetics (formerly Invitae), Labcorp 0 0 43 57 13 0 0 0 0 0 0 0 113
New York Genome Center 1 1 63 0 0 0 0 0 0 0 0 0 65
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 2 18 2 16 0 2 1 6 0 0 0 47
Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health 0 0 0 0 43 0 0 0 0 0 2 0 45
OMIM 15 0 4 0 1 0 0 0 0 2 2 0 24
Mendelics 6 4 6 0 0 0 0 0 0 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 5 1 0 0 0 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 0 0 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 3 0 0 0 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 1 0 0 0 0 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 0 0 0 0 0 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 0 0 0 0 1 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 1 0 0 0 0 0 0 0 0 3
Obstetrics and Gynaecology Department, Chinese University of Hong Kong 0 0 0 0 0 0 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 1 0 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 0 0 0 0 0 0 2
Faculté de Médecine, de Pharmacie et d'odontostomatologie, Université Cheikh Anta Diop 0 0 0 0 2 0 0 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 0 0 1
SNPedia 0 0 0 0 0 0 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 0 0 0 0 0 0 1
3billion 0 0 1 0 0 0 0 0 0 0 0 0 1
Department of Endocrinology, Antwerp University Hospital 1 0 0 0 0 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 0 0 0 0 1
iDNA Genomics 0 0 0 0 0 0 0 0 1 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 0 0 0 0 1
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 0 0 0 0 0 0 1

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