ClinVar Miner

Variants studied for aniridia

Included ClinVar conditions (14):
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 not provided total
263 43 466 200 65 2 1020

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WT1 18 4 178 100 10 0 310
LOC107982234, WT1 4 1 211 69 8 0 293
PAX6 189 33 26 13 10 1 265
ELP4, PAX6 12 1 32 16 37 0 88
ITPR1 14 3 12 0 0 1 28
LOC106014249, PAX6 0 0 5 0 0 0 5
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 4 0 0 0 0 0 4
DCDC1, DNAJC24, ELP4, IMMP1L 3 0 0 0 0 0 3
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, PAX6DRR, PAX6_HS8 2 0 0 0 0 0 2
ELP4, LOC106007485, LOC106007493, PAX6 2 0 0 0 0 0 2
ELP4, PAX6DRR 1 0 1 0 0 0 2
LOC106707172, LOC107982234, WT1 2 0 0 0 0 0 2
ALPK1, ANK2, AP1AR, ARSJ, CAMK2D, FAM241A, LARP7, LOC110120703, LOC110120805, LOC110120819, LOC111591508, LOC112935973, LOC112935974, LOC112935975, LOC112935976, 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, CCDC73, CSTF3, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FIBIN, FSHB, GAS2, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LINC00294, LUZP2, METTL15, MIR610, MPPED2, MUC15, NELL1, PAX6, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SVIP, TCP11L1, WT1 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
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980003, LOC105980005, LOC105980073, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, LOC105980073, 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, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC105980073, PAX6, PAX6DRR 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC106007485, LOC106007493, LOC106014249, PAX6 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
SOX2, SOX2-OT 0 0 1 0 0 0 1
TRIM44 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 80 9 379 176 21 0 665
Wessex Regional Genetics Laboratory,Salisbury District Hospital 109 24 2 0 0 0 135
Illumina Clinical Services Laboratory,Illumina 0 0 61 23 45 0 118
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 40 6 2 0 0 0 48
OMIM 27 0 0 0 0 0 27
EVA,EMBL-EBI 11 0 0 0 0 0 11
Baylor Genetics 1 1 7 0 0 0 9
Molecular Pathology, SA Pathology 9 0 0 0 0 0 9
Genetics Department,University Hospital of Toulouse 4 1 4 0 0 0 9
Department of Genetics,Fundacion Jimenez Diaz University Hospital 8 0 0 0 0 0 8
Fulgent Genetics,Fulgent Genetics 3 0 3 0 0 0 6
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 0 2
Mendelics 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Laboratory of Molecular Pathology,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1
Schule lab,Hertie Institute for Clinical Brain Research 1 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1

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