ClinVar Miner

Variants studied for aniridia 1

Included ClinVar conditions (5):
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
106 9 49 36 14 1 214

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAX6 82 8 11 10 2 1 113
ELP4, PAX6 5 1 32 24 12 0 74
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
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, 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, 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, LOC106007485, LOC106007493, 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
LOC107982234, WT1 0 0 1 0 0 0 1
WT1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 39 32 13 0 84
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 40 6 2 0 0 0 48
Invitae 26 1 3 2 1 0 33
OMIM 16 0 0 0 0 0 16
EVA,EMBL-EBI 11 0 0 0 0 0 11
Molecular Pathology, SA Pathology 9 0 0 0 0 0 9
Genetics Department,University Hospital of Toulouse 4 1 3 0 0 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 1 0 0 0 0 6
Department of Genetics,Fundacion Jimenez Diaz University Hospital 6 0 0 0 0 0 6
Fulgent Genetics 3 0 1 0 0 0 4
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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1

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