ClinVar Miner

Variants studied for albinism

Included ClinVar conditions (44):
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
312 145 824 170 113 2 1 4 1487

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
LYST 45 5 282 40 18 0 0 0 370
HPS1 28 12 46 14 18 0 0 0 111
OCA2 30 36 32 7 9 0 0 2 110
HPS4 12 2 75 13 10 0 0 0 109
AP3B1 13 0 79 11 9 0 0 0 107
TYR 61 40 12 2 3 0 1 2 98
HPS5 22 2 55 16 6 0 0 0 97
RAB27A 20 5 42 8 15 0 0 0 86
BLOC1S6 1 3 34 6 5 0 0 0 46
CP, HPS3 4 2 27 8 4 0 0 0 45
HPS3 6 5 27 5 3 0 0 0 44
HPS6 14 8 17 5 1 0 0 0 43
BLOC1S3 2 0 20 12 0 0 0 0 34
SLC45A2 12 6 15 1 0 0 0 0 33
DTNBP1 3 0 23 5 2 0 0 0 32
LURAP1L, TYRP1 5 5 15 0 7 0 0 0 30
TYRP1 2 2 12 3 0 0 0 0 19
GPR143 10 4 0 1 0 0 0 0 15
ABCC6 11 0 1 0 0 0 0 0 12
MC1R 0 6 6 0 0 0 0 0 11
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 8 1 0 0 0 9
MYO5A 4 0 1 0 2 0 0 0 7
BLOC1S3, TRAPPC6A 0 0 1 4 0 0 0 0 5
MYEF2, SLC24A5 1 1 0 0 0 1 0 0 3
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
HPS1, LOC101927278 0 0 1 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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
Illumina Clinical Services Laboratory,Illumina 8 4 596 134 82 0 0 0 824
Invitae 14 2 211 11 14 0 0 0 252
OMIM 148 0 0 0 2 2 0 0 152
GeneReviews 98 0 0 0 6 0 0 0 104
Genetic Services Laboratory, University of Chicago 52 21 0 0 0 0 1 0 74
Fulgent Genetics,Fulgent Genetics 16 7 21 0 0 0 0 0 44
NIHR Bioresource Rare Diseases, University of Cambridge 12 25 3 0 0 0 0 0 39
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 12 1 0 0 0 14
Laboratoire de Génétique Moléculaire,CHU Bordeéaux 11 2 0 0 0 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 7 1 0 0 0 0 0 12
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 3 3 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
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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 3 1 0 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
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 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
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
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 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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