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:
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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 established risk allele not provided total
264 324 590 921 130 1 14 2084

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
PFKM 48 84 167 524 41 0 1 825
G6PD 120 180 110 249 34 1 2 618
ALDOA, LOC112694756 4 4 109 105 11 0 1 220
PKLR 24 26 67 4 4 0 0 119
GPI 20 11 39 8 6 0 0 77
TPI1 8 3 41 10 12 0 0 69
UROS 22 1 21 5 8 0 9 57
G6PD, IKBKG 2 7 14 9 3 0 0 34
HK1 7 4 5 1 7 0 0 24
HCN3, PKLR 0 0 9 0 1 0 0 10
BPGM 4 0 3 0 0 0 0 7
MIR6505, PFKM 0 1 0 5 0 0 0 6
CASK 1 1 0 1 0 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 1 0 1 0 0 0 0 2
G6PD, IKBKG, LOC107181288 1 0 0 0 1 0 0 2
G6PD, IKBKG, LOC107181288, LOC129929052 0 1 1 0 0 0 0 2
G6PD, IKBKG, LOC108281126 0 0 0 0 2 0 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 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 1
ALDOA, C16orf54, CDIPT, KIF22, MAZ, MVP, PAGR1, PRRT2, QPRT, SPN, ZG16 0 1 0 0 0 0 0 1
ALDOA, LOC112694756, LOC130058806, LOC130058807 0 0 1 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 1
G6PD, IKBKG, LOC107181288, LOC130068881 0 0 1 0 0 0 0 1
GATA1 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 88 43 280 872 56 0 0 1339
Dunham Lab, University of Washington 102 152 20 7 21 0 0 302
Illumina Laboratory Services, Illumina 5 1 154 22 30 0 0 212
Revvity Omics, Revvity 21 20 91 0 0 0 0 132
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 1 34 29 32 0 0 102
OMIM 83 0 0 0 0 0 0 83
Baylor Genetics 11 43 11 0 0 0 0 65
Natera, Inc. 3 5 22 12 9 0 0 51
Mendelics 31 2 3 1 1 0 0 38
Fulgent Genetics, Fulgent Genetics 13 7 6 2 2 0 0 30
Neuberg Centre For Genomic Medicine, NCGM 10 7 8 0 0 0 0 25
Myriad Genetics, Inc. 1 22 0 0 0 0 0 23
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 11 4 0 0 0 0 22
Genome-Nilou Lab 1 0 4 2 13 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 1 3 0 0 0 0 19
3billion 3 6 9 0 0 0 0 18
Pars Genome Lab 0 0 0 1 14 0 0 15
GeneReviews 1 0 0 0 0 0 10 11
Juno Genomics, Hangzhou Juno Genomics, Inc 7 2 2 0 0 0 0 11
Lifecell International Pvt. Ltd 8 2 1 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 4 0 0 0 0 0 10
Counsyl 5 0 1 1 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 2 4 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 3 1 0 0 0 0 6
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 4 1 0 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 4 0 0 0 0 0 5
MGZ Medical Genetics Center 4 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 1 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 0 0 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 1 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 1 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 3 0 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 1 0 0 0 0 0 4
New York Genome Center 2 0 1 0 0 1 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 0 0 0 0 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 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 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 2 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 1 0 0 0 0 3
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 2 0 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 0 3
Watson Genetic Lab 2 1 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 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 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 1
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Palladino Lab, Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 0 1
UOSD Diagnostica Molecolare E Genomica, Irccs Policlinico Agostino Gemelli 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 0 1
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research 0 0 1 0 0 0 0 1

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