ClinVar Miner

Variants studied for aniridia

Included ClinVar conditions (13):
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
132 10 218 122 34 2 506

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
WT1 7 0 86 59 11 0 160
LOC107982234, WT1 3 0 81 27 9 0 113
PAX6 81 8 12 10 2 1 113
ELP4, PAX6 5 1 32 24 12 0 74
ITPR1 13 1 2 0 0 1 16
LOC106014249, PAX6 0 0 5 0 0 0 5
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
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 2 0 0 0 0 0 2
ELP4, LOC106007485, LOC106007493, PAX6 2 0 0 0 0 0 2
ALPK1, ANK2, AP1AR, ARSJ, CAMK2D, FAM241A, LARP7, LOC105377372, 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
ELP4, PAX6DRR 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
LOC106707172, LOC107982234, WT1 1 0 0 0 0 0 1
TRIM44 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 1 119 63 14 0 234
Illumina Clinical Services Laboratory,Illumina 0 0 95 57 20 0 172
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
Molecular Pathology, SA Pathology 9 0 0 0 0 0 9
Department of Genetics,Fundacion Jimenez Diaz University Hospital 8 0 0 0 0 0 8
Genetics Department,University Hospital of Toulouse 4 1 3 0 0 0 8
Fulgent Genetics 3 0 3 0 0 0 6
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
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
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 0 0 0 1
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
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
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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