ClinVar Miner

Variants studied for type 1 diabetes mellitus

Included ClinVar conditions (6):
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 likely risk allele total
6 6 48 16 1 1 78

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 likely risk allele total
HNF1A 6 5 40 16 1 0 68
C12orf43, HNF1A 0 0 2 0 0 0 2
FOXP3 0 1 1 0 0 0 2
INS, INS-IGF2 0 0 1 0 0 1 2
​intergenic 0 0 1 0 0 0 1
CEL 0 0 1 0 0 0 1
INS, INS-IGF2, TH 0 0 1 0 0 0 1
KCNJ11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele total
Fulgent Genetics, Fulgent Genetics 5 4 35 16 1 0 61
New York Genome Center 0 0 7 0 0 0 7
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1

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