ClinVar Miner

Variants studied for dihydropteridine reductase deficiency

Included ClinVar conditions (1):
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 total
34 24 101 160 23 329

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 total
QDPR 27 17 82 130 19 265
LOC129992304, QDPR 6 7 18 30 4 62
​intergenic 0 0 1 0 0 1
ACOX3, BOD1L1, BST1, C1QTNF7, CC2D2A, CD38, CLNK, CPEB2, CPEB2-DT, CPZ, DEFB131A, DRD5, FAM200B, FAM90A26, FBXL5, FGFBP1, FGFBP2, GPR78, HMX1, HS3ST1, LDB2, LINC00504, LINC01085, LINC01096, LINC01097, LINC01182, LINC02270, LINC02360, LINC02493, LOC101928532, LOC107986178, LOC110120633, LOC110120784, LOC111828517, LOC112939924, LOC112997536, LOC114827818, LOC116158485, LOC121048739, LOC121048740, LOC121725169, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC123477708, LOC123477709, LOC123477710, LOC126806970, LOC126806971, LOC126806972, LOC126806973, LOC126806974, LOC126806975, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC126806991, LOC126806992, LOC126806993, LOC129992221, LOC129992222, LOC129992223, LOC129992224, LOC129992225, LOC129992226, LOC129992227, LOC129992228, LOC129992229, LOC129992230, LOC129992231, LOC129992232, LOC129992233, LOC129992234, LOC129992235, LOC129992236, LOC129992237, LOC129992238, LOC129992239, LOC129992240, LOC129992241, LOC129992242, LOC129992243, LOC129992244, LOC129992245, LOC129992246, LOC129992247, LOC129992248, LOC129992249, LOC129992250, LOC129992251, LOC129992252, LOC129992253, LOC129992254, LOC129992255, LOC129992256, LOC129992257, LOC129992258, LOC129992259, LOC129992260, LOC129992261, LOC129992262, LOC129992263, LOC129992264, LOC129992265, LOC129992266, LOC129992267, LOC129992268, LOC129992269, LOC129992270, LOC129992271, LOC129992272, LOC129992273, LOC129992274, LOC129992275, LOC129992276, LOC129992277, LOC129992278, LOC129992279, LOC129992280, LOC129992281, LOC129992282, LOC129992283, LOC129992284, LOC129992285, LOC129992286, LOC129992287, LOC129992288, LOC129992289, LOC129992290, LOC129992291, LOC129992292, LOC129992293, LOC129992294, LOC129992295, LOC129992296, LOC129992297, LOC129992298, LOC129992299, LOC129992300, LOC129992301, LOC129992302, LOC129992303, LOC132089075, MIR12113, MIR3138, MIR5091, MIR548I2, MIR572, NKX3-2, PROM1, QDPR, RAB28, SLC2A9, SNORA75B, TAPT1, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, WDR1, ZNF518B 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 21 10 80 155 12 278
Illumina Laboratory Services, Illumina 0 1 23 2 13 39
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 0 0 0 8
OMIM 7 0 0 0 0 7
Revvity Omics, Revvity 0 1 3 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 1 1 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 1 4
Mendelics 3 0 0 0 0 3
Medical Genetics Research Center, Mashhad University of Medical Sciences 1 2 0 0 0 3
Baylor Genetics 0 1 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 1

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