ClinVar Miner

Variants studied for Peters anomaly

Included ClinVar conditions (10):
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
149 26 249 131 52 1 606

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAX6 131 21 95 103 14 0 362
CYP1B1 3 0 100 6 11 1 121
PITX2 0 0 38 6 19 0 63
ELP4, PAX6 8 1 10 8 5 0 32
CYP1B1, LOC128772254 0 0 3 0 2 0 5
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 2 0 0 0 0 0 2
PITRM1 0 0 0 1 1 0 2
PTCH1 0 2 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
ARHGAP35 1 0 0 0 0 0 1
BMP4 0 1 0 0 0 0 1
COL4A1 1 0 0 0 0 0 1
CYP1B1, LOC110599580 0 0 1 0 0 0 1
DAB1 0 0 0 1 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC105980073, LOC126861176, LOC130005471, PAX6, PAX6DRR 1 0 0 0 0 0 1
ELP4, LOC106007485, LOC106007493, PAX6 1 0 0 0 0 0 1
EPHB2 0 0 0 1 0 0 1
FAT1 0 0 0 1 0 0 1
FAT4 0 0 0 1 0 0 1
FREM1 0 0 0 1 0 0 1
LOC106007493, PAX6 0 1 0 0 0 0 1
LOC106014249, PAX6 0 0 1 0 0 0 1
PRPF8 0 0 0 1 0 0 1
RARG 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 139 21 94 111 16 0 381
Illumina Laboratory Services, Illumina 0 0 152 12 34 0 198
Paul Sabatier University EA-4555, Paul Sabatier University 0 2 0 8 0 0 10
Fulgent Genetics, Fulgent Genetics 2 0 1 1 0 0 4
Molecular Medicine, University of Pavia 2 2 0 0 0 0 4
Eye Genetics Research Group, Children's Medical Research Institute 3 0 0 0 0 0 3
Genetics Department, University Hospital of Toulouse 2 1 0 0 0 0 3
Mendelics 0 0 0 0 2 0 2
OMIM 1 0 0 0 0 0 1
Human Developmental Genetics Laboratory, Medical College of Wisconsin 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1

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