ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome

Coded as:
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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 total
37 54 157 47 55 345

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HPS1 15 16 57 18 21 125
HPS3 7 3 26 10 12 57
HPS4 1 6 25 5 9 45
CP, HPS3 3 6 22 7 6 44
AP3B1 0 2 9 6 5 22
HPS6 1 11 1 0 0 13
HPS5 2 4 6 0 0 12
DTNBP1 1 1 5 0 0 7
BLOC1S6 0 2 2 0 1 5
HPS6, LOC130004578 4 1 0 0 0 5
BLOC1S3 0 0 2 1 0 3
HPS4, LOC130067147 0 0 1 0 1 2
AP3D1 0 1 0 0 0 1
BLOC1S5 1 0 0 0 0 1
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 1 0 0 0 0 1
HPS1, LOC130004494 0 0 1 0 0 1
HPS1, MIR4685 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 14 5 72 31 38 160
Illumina Laboratory Services, Illumina 0 0 72 16 18 106
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 25 0 0 0 34
Broad Institute Rare Disease Group, Broad Institute 14 7 9 0 0 30
NIHR Bioresource Rare Diseases, University of Cambridge 10 14 3 0 0 27
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 4
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1

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