ClinVar Miner

Variants studied for albinism

Included ClinVar conditions (46):
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 association other not provided total
316 149 1345 232 261 2 1 4 2170

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
LYST 46 6 485 100 55 0 0 0 644
AP3B1 15 0 151 33 31 0 0 0 203
OCA2 31 36 78 5 21 0 0 2 164
HPS4 12 2 112 19 20 0 0 0 162
RAB27A 23 7 86 13 26 0 0 0 148
HPS1 28 12 66 5 35 0 0 0 141
HPS5 22 2 77 12 21 0 0 0 130
TYR 63 40 31 2 5 0 1 2 119
HPS3 6 6 46 7 10 0 0 0 74
HPS6 14 8 40 4 8 0 0 0 72
SLC45A2 14 6 42 2 1 0 0 0 63
CP, HPS3 4 2 35 8 11 0 0 0 60
LURAP1L, TYRP1 5 5 34 5 7 0 0 0 54
TYRP1 2 2 26 1 4 0 0 0 35
BLOC1S6 1 3 18 4 3 0 0 0 26
GPR143 11 4 0 1 0 0 0 0 16
MC1R 0 6 6 0 0 0 0 0 11
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 8 1 0 0 0 9
DTNBP1 3 0 7 0 0 0 0 0 9
MYO5A 4 0 1 0 2 0 0 0 7
BLOC1S3 3 0 2 1 0 0 0 0 6
MYEF2, SLC24A5 1 1 0 0 0 1 0 0 3
HPS1, LOC101927278 0 0 1 1 0 0 0 0 2
LOC110121427, LRMDA 1 0 0 1 0 0 0 0 2
LRMDA 1 1 0 0 0 0 0 0 2
MLPH 2 0 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 1
AP3D1 1 0 0 0 0 0 0 0 1
BLOC1S5 1 0 0 0 0 0 0 0 1
NRL 0 0 1 0 0 0 0 0 1
PAX3 1 0 0 0 0 0 0 0 1
SLC24A5 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
Illumina Clinical Services Laboratory,Illumina 9 6 915 116 204 0 0 0 1250
Invitae 24 4 461 103 71 0 0 0 663
OMIM 140 0 0 0 2 2 0 0 144
GeneReviews 98 0 0 0 6 0 0 0 104
Genetic Services Laboratory,University of Chicago 53 19 0 0 0 0 1 0 73
NIHR Bioresource Rare Diseases, University of Cambridge 12 25 3 0 0 0 0 0 39
Fulgent Genetics,Fulgent Genetics 11 7 20 0 0 0 0 0 38
University of Washington Center for Mendelian Genomics, University of Washington 0 38 0 0 0 0 0 0 38
Center of Medical Genetics,Central South University 8 12 1 0 0 0 0 0 21
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 10 6 0 0 0 0 0 0 16
Mendelics 4 0 1 3 6 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 7 4 0 0 0 0 0 14
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 12 1 0 0 0 14
Laboratoire de Génétique Moléculaire, CHU Bordeaux 11 2 0 0 0 0 0 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 9 1 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 0 0 9
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 4 3 0 0 0 9
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 8 0 0 0 0 0 0 0 8
Science and Research Branch, Islamic Azad University,Islamic Azad University 3 4 0 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 3 0 0 0 0 0 0 7
Baylor Genetics 5 1 0 0 0 0 0 0 6
Yale Center for Mendelian Genomics,Yale University 0 6 0 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 1 2 0 0 0 0 0 6
Blood Cell Research,Sanquin 5 0 0 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health: University of Minnesota 4 1 0 0 0 0 0 0 5
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 0 2 4
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 2 0 0 0 0 0 4
Counsyl 0 1 0 1 1 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 0 0 0 0 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 3 0 0 0 0 0 0 0 3
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 1 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Fan Lab,Zhengzhou University 0 2 0 0 0 0 0 0 2
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 2 0 0 0 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 1 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 1 0 1
Institute of Human Genetics,University Hospital Ulm 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Kasturba Medical College,Manipal University 0 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 0 1

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