ClinVar Miner

Variants studied for Hemolytic anemia

Coded as:
Minimum submission review status: Collection method:
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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
3 7 87 19 27 143

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC4A1 0 0 84 19 27 130
SPTA1 0 5 0 0 0 5
HBB, LOC106099062, LOC107133510 2 0 0 0 0 2
PIEZO1 0 0 2 0 0 2
ANK1 0 0 1 0 0 1
GPI 0 1 0 0 0 1
PKLR 0 1 0 0 0 1
SPTB 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 84 19 27 130
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 0 0 7
OMIM 2 0 0 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1

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