ClinVar Miner

Variants studied for anemia due to enzyme disorder

Included ClinVar conditions (17):
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
115 7 147 16 18 1 295

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKLR 14 4 31 0 3 0 51
PFKM 11 2 25 6 7 1 49
UROS 24 0 14 3 2 0 41
GSS 9 0 25 0 0 0 32
TPI1 8 0 13 5 3 0 29
ALDOA, LOC112694756 2 0 23 1 2 0 27
PGK1 14 0 2 0 0 0 16
COX4I2 1 0 9 1 0 0 11
NT5C3A 10 0 0 0 0 0 10
GPI 8 0 0 0 0 0 8
AK1 7 0 0 0 0 0 7
HCN3, PKLR 0 0 5 0 1 0 6
HK1 3 1 0 0 0 0 4
BPGM 2 0 0 0 0 0 2
CYSLTR1, LPAR4, MIR4328, P2RY10, RTL3 1 0 0 0 0 0 1
GCLC 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 not provided total
Illumina Clinical Services Laboratory,Illumina 6 1 133 14 14 0 168
OMIM 104 0 0 0 0 0 104
Invitae 0 1 6 1 4 0 12
GeneReviews 10 0 0 0 0 0 10
Fulgent Genetics 2 2 4 0 0 0 8
Counsyl 1 0 1 1 0 0 3
Integrated Genetics/Laboratory Corporation of America 3 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Palladino Lab,Pittsburgh Institute for Neurodegenerative Disease 1 0 0 0 0 0 1
Diagnostica di Laboratorio,Fondazione Policlinico Gemelli 0 1 0 0 0 0 1

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