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
69 4 42 66 19 16 205

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 17 2 26 38 11 0 94
GCK 6 0 7 18 4 0 35
INS, INS-IGF2 17 2 0 0 0 16 24
KCNJ11 24 0 0 0 0 0 24
PTF1A 0 0 9 4 2 0 15
ABCC8, KCNJ11 0 0 0 5 2 0 7
INS 3 0 0 0 0 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: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 42 66 19 0 127
GeneReviews 62 0 0 0 1 0 63
OMIM 23 0 0 0 0 0 23
UniProtKB/Swiss-Prot 0 0 0 0 0 16 16
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 7
Rady Children's Institute for Genomic Medicine,Rady Children's Hospital San Diego 0 1 0 0 0 0 1

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