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
97 7 375 100 74 619

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
HPS4 12 1 75 11 10 107
HPS1 25 1 46 14 18 100
HPS5 21 0 53 16 6 93
AP3B1 13 0 60 14 23 92
CP, HPS3 3 1 27 8 4 43
HPS3 5 1 27 5 3 39
BLOC1S6 1 0 27 6 7 38
HPS6 11 3 16 5 1 34
BLOC1S3 2 0 19 12 0 33
DTNBP1 2 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: 18
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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 19 4 20 44
Laboratoire de Génétique Moléculaire,CHU Bordeéaux 11 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 6
Blood Cell Research,Sanquin 5 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 0 0 4
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
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1

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