ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
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
107 34 405 99 58 676

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HPS1 28 12 46 14 18 111
HPS4 12 2 75 13 10 109
AP3B1 13 0 79 11 9 107
HPS5 22 2 55 16 6 97
BLOC1S6 1 3 34 6 5 46
CP, HPS3 4 2 27 8 4 45
HPS3 6 5 27 5 3 44
HPS6 14 8 17 5 1 43
BLOC1S3 2 0 20 12 0 34
DTNBP1 3 0 23 5 2 32
BLOC1S3, TRAPPC6A 0 0 1 4 0 5
​intergenic 1 0 0 0 0 1
AP3D1 1 0 0 0 0 1
HPS1, LOC101927278 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 353 88 49 491
GeneReviews 57 0 0 0 4 61
OMIM 55 0 0 0 0 55
Invitae 1 0 47 0 2 50
NIHR Bioresource Rare Diseases, University of Cambridge 11 17 3 0 0 30
Laboratoire de Génétique Moléculaire,CHU Bordeéaux 11 2 0 0 0 13
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 3 3 8
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 6
University of Washington Center for Mendelian Genomics,University of Washington 0 6 0 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 2 0 0 0 5
Blood Cell Research,Sanquin 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 3
Counsyl 0 1 0 1 1 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Center of Medical Genetics,Central South University 2 1 0 0 0 3
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1

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