ClinVar Miner

Variants studied for Heimler syndrome 1

Coded as:
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 total
55 85 17 2 4 159

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PEX1 37 52 11 1 4 104
GATAD1, PEX1 16 29 5 1 0 48
LOC129998796, PEX1 2 4 0 0 0 6
PEX26 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 49 83 6 0 0 138
Genome-Nilou Lab 0 0 8 1 4 13
OMIM 5 0 0 0 0 5
Counsyl 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
Dental Genetics Laboratory, Seoul National University School of Dentistry 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1
Inborn Errors of Metabolism, Hospital Clinic, IDIBAPS, CIBERER 1 0 0 0 0 1

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