ClinVar Miner

Variants studied for sleep disorder

Included ClinVar conditions (26):
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 not provided total
29 13 547 634 100 6 2 1273

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
DNMT1 7 6 492 566 86 0 1 1104
DNMT1, LOC126862853 1 1 14 42 8 0 0 63
DNMT1, LOC130063472 0 0 13 13 1 0 0 27
DNMT1, LOC107080555 0 0 3 9 2 0 0 14
PRNP 3 3 3 4 1 0 1 14
PER2 2 0 6 0 0 0 0 8
PER3 3 0 2 0 0 0 0 5
AHDC1 3 0 0 0 0 0 0 3
CHAT 2 0 0 0 0 0 0 2
CRY1 0 0 0 0 0 2 0 2
CSNK1D 2 0 0 0 0 0 0 2
DNMT1, SHFL 1 0 1 0 0 0 0 2
MAP4 0 0 2 0 0 0 0 2
MOG 1 0 0 0 1 0 0 2
PLXND1 0 0 2 0 0 0 0 2
QARS1 0 2 0 0 0 0 0 2
TIMELESS 0 0 1 0 1 0 0 2
​intergenic 1 0 0 0 0 0 0 1
CDKL5 1 0 0 0 0 0 0 1
EIF3G 0 0 0 0 0 1 0 1
EIF3G, P2RY11 0 0 0 0 0 1 0 1
GABRB3 0 0 1 0 0 0 0 1
HCRT 1 0 0 0 0 0 0 1
LRCH2, RBMXL3 0 0 1 0 0 0 0 1
MECP2 1 0 0 0 0 0 0 1
MT-CO3 0 0 1 0 0 0 0 1
MTMR8 0 0 1 0 0 0 0 1
NAA10 0 0 1 0 0 0 0 1
NAV3 0 0 1 0 0 0 0 1
P2RY11, PPAN, PPAN-P2RY11 0 0 0 0 0 1 0 1
PPAN, PPAN-P2RY11 0 0 0 0 0 1 0 1
RYR1 0 0 1 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 1
WNK3 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 1 465 618 67 0 0 1155
Illumina Laboratory Services, Illumina 0 0 31 17 53 0 0 101
Fulgent Genetics, Fulgent Genetics 1 1 20 12 2 0 0 36
OMIM 14 0 1 0 0 0 0 15
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 15 0 0 0 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 3 0 1 0 0 8
Undiagnosed Diseases Network, NIH 0 0 7 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 1 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 0 6
Revvity Omics, Revvity 0 0 5 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 1 0 0 4
Center for Narcolepsy, Stanford University 0 0 0 0 0 4 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 0 2 2 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 0 4
Whole genome laboratory; Baylor College of Medicine 3 0 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 1 0 0 0 0 2
Bioinformatics dept., Datar Cancer Genetics Limited, India 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 1 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 0 0 0 0 2 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 1 1 0 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1

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