ClinVar Miner

Variants studied for Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency

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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 total
10 4 1 0 0 15

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
G6PD 10 3 0 13
G6PD, IKBKG 0 1 0 1
G6PD, IKBKG, LOC107181288, LOC129929052 0 0 1 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics, Fulgent Genetics 9 4 0 13
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 2
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research 0 0 1 1

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