ClinVar Miner

Variants studied for diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Included ClinVar conditions (3):
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 total
10 16 27 0 6 55

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
KCNJ11 10 16 27 5 54
ABCC8, KCNJ11 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance benign total
Counsyl 0 10 25 0 35
OMIM 8 0 0 0 8
Genetic Services Laboratory, University of Chicago 3 4 1 0 8
Athena Diagnostics Inc 0 0 0 6 6
Fulgent Genetics,Fulgent Genetics 0 1 2 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 2

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