ClinVar Miner

Variants studied for Maturity onset diabetes mellitus in young

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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 likely risk allele uncertain risk allele total
142 195 872 281 368 114 120 1978

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele total
ABCC8 3 2 444 0 10 0 0 458
GCK 54 93 60 44 83 48 53 404
HNF1A 55 64 41 69 75 30 25 316
HNF4A 12 18 58 49 120 14 22 273
HNF1B 16 13 39 56 24 19 17 173
KCNJ11 0 0 154 0 6 1 0 161
PAX4 0 0 25 18 8 0 0 49
C12orf43, HNF1A 0 1 6 3 22 0 1 31
PDX1 0 3 4 19 5 0 0 30
HNF1B, LOC126862549 0 1 4 4 5 2 2 17
BLK, LOC126860302 0 0 8 4 0 0 0 12
ABCC8, LOC110121471 0 0 8 0 3 0 0 11
NEUROD1 0 0 8 0 1 0 0 9
ABCC8, KCNJ11 0 0 5 4 0 0 0 7
INS, INS-IGF2, TH 0 0 0 4 3 0 0 7
KLF11 0 0 3 1 1 0 0 5
INS, TH 0 0 0 4 0 0 0 4
BLK 0 0 2 0 0 0 0 2
INS, INS-IGF2 0 0 1 1 0 0 0 2
KLF11, LOC128897170 0 0 1 0 1 0 0 2
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 1
LMNA 0 0 0 1 0 0 0 1
MLKL 1 0 0 0 0 0 0 1
PTF1A 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele total
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 56 111 712 123 327 114 120 1563
Ambry Genetics 65 44 77 128 32 0 0 346
Illumina Laboratory Services, Illumina 0 0 70 40 13 0 0 123
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 0 36
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 7 0 0 0 0 0 27
Molecular Genetics, Madras Diabetes Research Foundation 3 4 6 1 0 0 0 14
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 8 0 2 0 0 11
MVZ Dr. Eberhard & Partner Dortmund 0 1 5 0 0 0 0 6
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 1 1 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 0 0 0 0 0 3
Mendelics 0 0 1 0 1 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 0 0 0 0 2
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1 1 0 0 0 0 0 2
Diabetes Institute, Department of Endocrinology and Metabolism, First Affiliated Hospital of Zhengzhou University 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 0 1
Sidra Medicine 1 0 0 0 0 0 0 1
Medical Genomics Research Department, King Abdullah International Medical Research Center 0 0 1 0 0 0 0 1

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