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
155 213 868 308 366 114 138 2034

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele total
ABCC8 5 2 426 0 8 0 18 457
GCK 58 101 63 48 83 48 53 422
HNF1A 59 67 43 77 75 30 25 329
HNF4A 13 21 60 53 120 14 22 277
HNF1B 18 14 44 62 24 19 17 186
KCNJ11 0 0 154 0 6 1 0 161
PAX4 0 0 25 18 8 0 0 49
PDX1 0 4 5 24 5 0 0 36
C12orf43, HNF1A 0 2 6 3 22 0 1 32
HNF1B, LOC126862549 0 1 5 4 5 2 2 18
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
LOC127407129, RFX6 0 1 0 0 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: 20
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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 56 111 692 123 325 114 138 1559
Ambry Genetics 70 49 91 156 32 0 0 398
Illumina Laboratory Services, Illumina 0 0 70 40 13 0 0 123
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 10 0 0 0 0 0 38
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 0 36
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 14 16 0 0 0 0 0 30
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 6 0 0 0 0 7
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 1 1 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 0 2 1 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
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 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
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 0 1

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