ClinVar Miner

Variants reported as association

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Total variants: 290
Total variants unanimously reported as association: 240

Breakdown by submitter #

Total submitters: 29
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Submitter Variants
OMIM 112
Center of Medical Genetics,Central South University 47
Rajkovic Lab, University of Pittsburgh 28
Division of Molecular Genetics and Division of Molecular Medicine, Department of Research and Development,Faculty of Medicine Siriraj Hospital, Mahidol University 26
Department of Biological Science,Sunandan Divatia School of Science, NMIMS University 9
GeneReviews 8
Geschwind lab,University of California Los Angeles 8
Department of Orthopeadics and Traumatology,Nanfang Hospital 8
Research Lab, National Institute of Public Health 5
Human Development and Health,University of Southampton 5
Center for Narcolepsy, Stanford University 4
Department of Zoology,University of the Punjab, Lahore 4
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 3
Colorectal Cancer Research Lab, Singapore General Hospital 3
Molecular Oncology Laboratory,Centre Jean Perrin 3
Obstetrics and Gynaecology Department,Chinese University of Hong Kong 3
SickKids Clinical Genetics Group,The Hospital for Sick Children 2
Garg Lab, Nationwide Children's Hospital 1
Urology laboratory, deVerdier,Karolinska Institutet 1
Gromoll Lab CeRA, University of Muenster 1
Human Genetics,Leiden University Medical Centre 1
Human Population Biology Research Unit, Department of Anatomy and Anthropology, Sackler Faculty of Medicine,Tel Aviv University 1
College of Pharmacy,University of Babylon 1
Research Center for Immunodeficiencies,Tehran University of Medical Sciences 1
Medical Research Institute,Tokyo Medical and Dental University 1
Kasturba Medical College,Manipal University 1
Histocompatability and Immunogenetics,National Health Service Blood and Transplant 1
National AIDS Research Institute,National AIDS Research Institute 1
Department of Biochemistry,Shiraz University of Medical Sciences 1

Breakdown by condition #

Total conditions: 96
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Condition Variants
Autism spectrum disorder 55
Uterine leiomyoma 28
Calcium oxalate urolithiasis 26
Thyroxine-binding globulin quantitative trait locus 13
Lip and oral cavity carcinoma 9
Chronic osteomyelitis 8
Deafness, autosomal recessive 9 7
Inflammatory bowel disease 1 5
Lactase persistence 5
Cataplexy and narcolepsy 4
High density lipoprotein cholesterol level quantitative trait locus 6 4
Low density lipoprotein cholesterol level quantitative trait locus 1 4
Skin/hair/eye pigmentation 2, red hair/fair skin 4
Bilirubin, serum level of, quantitative trait locus 1 3
Blood group, Junior system 3
Bone mineral density quantitative trait locus 18 3
Bone mineral density variation quantitative trait locus 3
Carcinoma of colon 3
Diabetes mellitus type 2 3
Familial cancer of breast 3
High density lipoprotein cholesterol level quantitative trait locus 12 3
Increased histidine 3
Rheumatoid arthritis 3
Triple-negative breast cancer 3
Uric acid concentration, serum, quantitative trait locus 1 3
Uric acid concentration, serum, quantitative trait locus 2 3
Breast carcinoma 2
Diabetes mellitus, insulin-dependent, 10 2
Enzyme activity finding 2
High density lipoprotein cholesterol level quantitative trait locus 10 2
High density lipoprotein cholesterol level quantitative trait locus 11 2
Intellectual disability; Abnormality of brain morphology 2
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 2
Obesity, association with 2
Osteoarthritis 2
Plasma triglyceride level quantitative trait locus 2
Recombination rate quantitative trait locus 1 2
Skin/hair/eye pigmentation 2, blond hair/fair skin 2
Skin/hair/eye pigmentation, variation in, 1 2
Skin/hair/eye pigmentation, variation in, 10 2
Skin/hair/eye pigmentation, variation in, 3 2
Skin/hair/eye pigmentation, variation in, 4 2
Skin/hair/eye pigmentation, variation in, 5 2
ABO blood group system 1
APOE4 VARIANT 1
Aldosterone to renin ratio, increased 1
Arthrogryposis renal dysfunction cholestasis syndrome 1
Atrioventricular septal defect; Pulmonary atresia with ventricular septal defect; Heterotaxia; Single Ventricle Defect 1
BAK PLATELET-SPECIFIC ANTIGEN 1
Bone mineral density quantitative trait locus 12 1
Bone mineral density quantitative trait locus 15 1
Bone mineral density quantitative trait locus 17 1
CYP2E1*6 ALLELE 1
Colorectal cancer 1
Essential hypertension 1
Fasting plasma glucose level quantitative trait locus 5 1
Fetal and neonatal alloimmune thrombocytopenia 1
Glycemia variation 1
Hair morphology 1, hair thickness 1
Hereditary pancreatitis 1
Hereditary spastic paraplegia 1
High density lipoprotein cholesterol level quantitative trait locus 7 1
High density lipoprotein cholesterol level quantitative trait locus 8 1
High density lipoprotein cholesterol level quantitative trait locus 9 1
Homocysteine, total plasma, elevated 1
Human immunodeficiency virus type 1, rapid progression to AIDS 1
Hypoplastic left heart syndrome 1; Aortic valve atresia; Mitral atresia 1
Interleukin 6, serum level of, quantitative trait locus 1
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 1
Le(-) PHENOTYPE 1
Leanness, inherited 1
Long QT syndrome 1
Low density lipoprotein cholesterol level quantitative trait locus 3 1
Low density lipoprotein cholesterol level quantitative trait locus 6 1
Memory quantitative trait locus 1
Obesity, late-onset 1
Obesity, variation in 1
Resting heart rate 1
Serum calcium level 1
Skin/hair/eye pigmentation 3, blue/green eyes 1
Skin/hair/eye pigmentation, variation in, 6 1
Skin/hair/eye pigmentation, variation in, 9 1
Sodium serum level quantitative trait locus 1 1
Soluble interleukin-6 receptor, serum level of, quantitative trait locus 1
Statins, attenuated cholesterol lowering by 1
Systemic lupus erythematosus 10 1
Thyroxine-binding globulin deficiency, partial 1
Transferrin serum level quantitative trait locus 2 1
Transferrin variant c1/c2 1
Uric acid concentration, serum, quantitative trait locus 4 1
Vitamin b12 plasma level quantitative trait locus 1 1
White blood cell count quantitative trait locus 1 1
appendicular lean mass relative to body height 1
decreased blood alpha-hydroxyisovalerate levels 1
isolated follicle-stimulating hormone deficiency 1
repeat number of microsatellite 1

Breakdown by gene #

Total genes and gene combinations: 114
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Gene Variants
POGZ 47
MED12 28
SERPINA7 14
CD44 11
HAO1 11
OTOF 7
​intergenic 5
HSPA1L 5
MC1R 5
WWOX 5
ABCG2 4
MCM6 4
PCSK9 4
SCARB1 4
ABCC1 3
COL1A1 3
HAL 3
LIPC 3
PLS3 3
PPARG 3
SLC2A9 3
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 3
AHSG 2
ANGPTL4 2
CETP 2
CLEC3A, VAT1L, WWOX 2
HERC2 2
HMGCR 2
IL2RA 2
LIMA1 2
LPL 2
PADI4 2
PON1 2
PRC1 2
RAC3 2
RNF212 2
SDC3 2
SLC45A2 2
TERT 2
TLR8 2
TPCN2 2
TYR 2
ABO 1
ACKR1 1
ACYP2 1
ADRB1 1
AGRP 1
AHCY, ASIP 1
ANKRD17 1
APOE 1
ARID1A 1
BGLAP, PAQR6 1
BISPR, BST2, MVB12A 1
CASR 1
CD44, SNORD164 1
CELSR2, LOC110121285, SORT1 1
CHEK2 1
CLEC3A, NUDT7, VAT1L, WWOX 1
CNTN4 1
CTH 1
CTRC 1
CYP11B2, LOC110673971 1
CYP2E1 1
CYP3A5, ZSCAN25 1
EDAR, RANBP2 1
EDN1 1
EIF3G 1
EIF3G, P2RY11 1
FHIT 1
FOXP1 1
FSHB 1
FUT2, LOC105447645 1
FUT3 1
GCKR 1
GRIK2 1
HFE 1
HPS5, LDHA 1
IL6R 1
IRF5 1
ITGA2B 1
ITGB3 1
KIF26A 1
LCT, MCM6 1
LGR4 1
LOC110806263, TERT 1
LOC111365141, NOS2 1
LOC113839511, MIR2861 1
MMP2 1
MRE11 1
MYEF2, SLC24A5 1
MYNN 1
NPC1L1 1
P2RY11, PPAN, PPAN-P2RY11 1
PALB2 1
PLTP 1
PPAN, PPAN-P2RY11 1
PPARGC1B 1
PPP1R3A 1
PREX2 1
RASGRP3 1
SAMD4A 1
SLC17A3 1
SLC24A4 1
SLC24A5 1
SLC2A5 1
SNTB1 1
TF 1
TRPV4 1
UGT2B17 1
UMOD 1
VNN1 1
VPS33B 1
WWC1 1
ZBTB46 1

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