ClinVar Miner

Variants studied for blood protein disease

Included ClinVar conditions (6):
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 risk factor total
38 28 125 28 16 1 216

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
PROS1 31 28 123 28 16 1 207
TNFRSF13B 6 0 2 0 0 0 8
ARL13B, DHFR2, NSUN3, PROS1, STX19 0 1 0 0 0 0 1
ARL13B, PROS1, STX19 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 18 9 43 16 15 0 101
Illumina Clinical Services Laboratory,Illumina 1 0 65 11 2 0 79
NIHR Bioresource Rare Diseases, University of Cambridge 4 17 11 0 0 0 32
OMIM 14 0 0 0 0 0 14
CSER _CC_NCGL, University of Washington 0 1 11 1 0 0 13
Baylor Genetics 3 0 1 0 0 0 4
Mendelics 0 0 1 0 3 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 2 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Russ Altman Lab,Stanford University 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1

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