ClinVar Miner

Variants studied for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (15):
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 not provided total
248 294 578 918 130 14 2033

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PFKM 47 75 167 524 41 1 817
G6PD 114 174 105 246 34 2 603
ALDOA, LOC112694756 4 4 109 105 11 1 220
PKLR 19 17 64 4 4 0 104
GPI 17 8 37 8 6 0 72
TPI1 8 2 40 10 12 0 67
UROS 22 1 21 5 8 9 57
G6PD, IKBKG 3 6 14 9 3 0 33
HK1 7 3 4 1 7 0 22
HCN3, PKLR 0 0 9 0 1 0 10
BPGM 4 0 2 0 0 0 6
MIR6505, PFKM 0 1 1 5 0 0 6
CASK 1 1 0 1 0 0 3
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 0 0 2 0 0 0 2
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
ALDOA, LOC112694756, LOC130058806, LOC130058807 0 0 1 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
GATA1 0 0 0 0 0 1 1
TAFAZZIN 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 85 43 281 872 56 0 1337
Dunham Lab, University of Washington 96 148 17 3 20 0 284
Illumina Laboratory Services, Illumina 5 1 154 22 30 0 212
Revvity Omics, Revvity 21 19 92 0 0 0 132
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 1 34 29 32 0 102
OMIM 82 0 0 0 0 0 82
Baylor Genetics 11 34 11 0 0 0 56
Natera, Inc. 3 5 22 12 9 0 51
Mendelics 31 2 3 1 1 0 38
Fulgent Genetics, Fulgent Genetics 13 7 6 2 2 0 30
Myriad Genetics, Inc. 1 22 0 0 0 0 23
Genome-Nilou Lab 1 0 4 2 13 0 20
3billion 3 6 9 0 0 0 18
Pars Genome Lab 0 0 0 1 14 0 15
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 10 1 3 0 0 0 14
GeneReviews 1 0 0 0 0 10 11
Lifecell International Pvt. Ltd 8 2 1 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 0 0 0 0 8
Counsyl 5 0 1 1 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 2 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 2 4 0 0 0 0 6
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 1 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 4 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
Institute of Human Genetics, University of Leipzig Medical Center 1 3 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 0 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 3 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 0 0 0 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 2 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 1 0 0 0 3
New York Genome Center 2 0 1 0 0 0 3
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 2 0 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine 1 1 0 0 0 0 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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