ClinVar Miner

Variants studied for Permanent neonatal diabetes mellitus

Coded as:
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
66 4 118 38 34 16 265

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCC8 15 2 80 20 19 0 136
GCK 6 0 37 11 12 0 66
KCNJ11 24 0 0 0 0 0 24
INS, INS-IGF2 16 2 0 0 0 16 23
ABCC8, KCNJ11 0 0 0 5 2 0 7
INS 3 0 0 0 0 0 3
PTF1A 0 0 1 1 1 0 3
PDX1 2 0 0 0 0 0 2
ABCC8, LOC110121471 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 118 38 33 0 189
GeneReviews 62 0 0 0 1 0 63
UniProtKB/Swiss-Prot 0 0 0 0 0 16 16
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 7
OMIM 2 0 0 0 0 0 2
Mendelics 1 0 0 0 1 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1

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