ClinVar Miner

Variants studied for albinism

Included ClinVar conditions (43):
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
287 101 721 190 141 2 1 4 1344

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 44 3 216 60 32 0 0 0 319
HPS4 12 1 75 11 10 0 0 0 107
HPS1 25 1 46 14 18 0 0 0 100
OCA2 26 30 32 7 7 0 0 2 100
HPS5 21 0 53 16 6 0 0 0 93
AP3B1 13 0 60 14 23 0 0 0 92
TYR 58 35 12 2 3 0 1 2 91
RAB27A 15 4 36 8 17 0 0 0 77
CP, HPS3 3 1 27 8 4 0 0 0 43
HPS3 5 1 27 5 3 0 0 0 39
BLOC1S6 1 0 27 6 7 0 0 0 38
HPS6 11 3 16 5 1 0 0 0 34
BLOC1S3 2 0 19 12 0 0 0 0 33
DTNBP1 2 0 23 5 2 0 0 0 32
SLC45A2 12 4 14 1 0 0 0 0 30
LURAP1L, TYRP1 5 5 15 0 6 0 0 0 29
TYRP1 2 2 12 3 0 0 0 0 19
GPR143 10 4 0 0 0 0 0 0 14
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 1 0 0 0 6
BLOC1S3, TRAPPC6A 0 0 1 4 0 0 0 0 5
LOC110121427, LRMDA 1 0 0 1 0 0 0 0 2
LRMDA 1 1 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
MLPH 1 0 0 0 0 0 0 0 1
MYEF2, SLC24A5 0 0 0 0 0 1 0 0 1
NRL 0 0 1 0 0 0 0 0 1
SLC24A5 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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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 8 2 108 39 50 0 0 0 207
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 16 7 21 0 0 0 0 0 44
University of Washington Center for Mendelian Genomics,University of Washington 0 32 0 0 0 0 0 0 32
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 12 1 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 7 1 0 0 0 0 0 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 4 0 0 0 0 0 0 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 9 1 0 0 0 11
Laboratoire de Génétique Moléculaire,CHU Bordeéaux 11 0 0 0 0 0 0 0 11
NIHR Bioresource Rare Diseases,University of Cambridge 1 8 0 0 0 0 0 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 0 0 0 0 0 0 0 7
Science and Research Branch, Islamic Azad University,Islamic Azad University 3 4 0 0 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 0 0 7
Yale Center for Mendelian Genomics,Yale University 0 6 0 0 0 0 0 0 6
Baylor Miraca Genetics Laboratories, 5 0 0 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 4 1 0 0 0 0 0 0 5
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
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 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 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
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
Kasturba Medical College,Manipal University 0 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1

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