ClinVar Miner

Variants studied for Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Coded as:
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Gene type:
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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 not provided total
119 180 121 255 40 2 646

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
G6PD 114 173 105 246 34 2 604
G6PD, IKBKG 3 5 14 9 3 0 33
G6PD, IKBKG, LOC107181288 1 0 0 0 1 0 2
G6PD, IKBKG, LOC108281126 0 0 0 0 2 0 2
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC129929052 0 1 0 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC130068881 0 0 1 0 0 0 1
TAFAZZIN 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 16 93 252 21 0 424
Dunham Lab, University of Washington 96 148 17 3 20 0 284
Revvity Omics, Revvity 14 15 9 0 0 0 38
Mendelics 29 1 2 0 0 0 32
OMIM 16 0 0 0 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 7 2 0 0 0 12
Lifecell International Pvt. Ltd 8 2 1 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 1 0 0 0 0 9
Baylor Genetics 6 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 6 0 0 0 0 0 6
Counsyl 5 0 0 0 0 0 5
MGZ Medical Genetics Center 4 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 1 0 0 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 0 0 0 0 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 0 0 0 0 0 3
New York Genome Center 2 0 1 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
3billion 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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