ClinVar Miner

Variants studied for aniridia 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
303 55 184 146 47 4 722

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAX6 258 52 104 107 16 2 526
ELP4, PAX6 16 2 35 22 29 2 102
WT1 7 0 19 12 0 0 38
LOC107982234, WT1 0 0 19 3 0 0 22
LOC106014249, PAX6 0 0 5 0 1 0 6
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 4 0 0 0 0 0 4
DCDC1, DNAJC24, ELP4, IMMP1L 3 0 0 0 0 0 3
ELP4, LOC106007485, LOC106007493, PAX6 2 0 0 0 0 0 2
ELP4, PAX6DRR 1 0 1 0 0 0 2
ALPK1, ANK2, AP1AR, AP1AR-DT, ARSJ, CAMK2D, FAM241A, LARP7, LINC02945, LOC105377366, LOC110120703, LOC110120805, LOC110120819, LOC111591508, LOC112935973, LOC112935974, LOC112935975, LOC112935976, LOC123477806, LOC123477807, LOC123477808, LOC123477809, LOC123477810, LOC123480920, LOC123480921, LOC126807136, LOC126807137, LOC126807138, LOC126807139, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC129992992, LOC129992993, LOC129992994, LOC129992995, LOC129992996, LOC129992997, LOC129992998, LOC129992999, LOC132089001, LOC132089002, LOC132089003, LOC132089004, MIR1243, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, MIR8082, NEUROG2, TIFA, ZGRF1 1 0 0 0 0 0 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CSRP3, DBX1, DCDC1, DNAJC24, E2F8, ELP4, FANCF, FIBIN, FSHB, GAS2, HTATIP2, IGSF22, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LUZP2, METTL15, MIR610, MPPED2, MRGPRX1, MRGPRX2, MUC15, NAV2, NELL1, PAX6, PRMT3, PTPN5, SLC17A6, SLC5A12, SLC6A5, SPTY2D1, SVIP, TMEM86A, TSG101, UEVLD, ZDHHC13 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980003, LOC105980005, LOC105980073, LOC126861175, LOC129390272, LOC129390273, LOC129390274, LOC130005470, LOC130005471, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, LOC105980073, LOC126861175, LOC129390272, LOC129390273, LOC129390274, LOC130005469, LOC130005470, LOC130005471, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, LOC126861175, LOC129390272, LOC129390273, LOC129390274, LOC130005469, LOC130005470, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, LOC126861175, LOC129390272, LOC129390273, LOC129390274, LOC130005470, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
DNAJC24, ELP4, IMMP1L, LOC105980005, LOC105980073, LOC129390272, LOC129390273, LOC129390274, LOC130005471, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
ELP4 0 0 0 0 1 0 1
ELP4, LOC105980003, LOC105980073, LOC126861176, LOC130005471, PAX6, PAX6DRR 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC106007485, LOC106007493, LOC106014249, LOC126861176, PAX6 1 0 0 0 0 0 1
EPHA2 1 0 0 0 0 0 1
FOXC1, GMDS 1 0 0 0 0 0 1
GLIS3 0 0 0 1 0 0 1
KIF21A 0 0 0 1 0 0 1
LOC106007493, PAX6 0 1 0 0 0 0 1
LOC108281177, SOX2, SOX2-OT 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 139 21 94 111 16 0 381
Wessex Regional Genetics Laboratory, Salisbury District Hospital 109 24 2 0 0 0 135
Illumina Laboratory Services, Illumina 0 0 37 19 34 0 89
Fulgent Genetics, Fulgent Genetics 9 0 39 16 0 0 64
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 40 7 2 0 0 0 49
OMIM 16 0 0 0 0 0 16
Genetics Department, University Hospital of Toulouse 8 1 3 0 0 0 12
EVA, EMBL-EBI 11 0 0 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 9 0 0 0 0 0 9
Department of Genetics, Fundacion Jimenez Diaz University Hospital 6 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Mendelics 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
KK Women’s and Children’s Hospital 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1

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