ClinVar Miner

Variants studied for diabetes insipidus

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 not provided total
44 22 81 14 52 4 214

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AQP2, LOC101927318 1 5 56 7 21 2 90
AVPR2 25 14 13 6 26 2 85
AQP2 0 1 12 1 5 0 19
AVP 18 1 0 0 0 0 19
MATN4 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 77 13 52 0 143
OMIM 38 0 0 0 0 0 38
Integrated Genetics/Laboratory Corporation of America 3 15 0 1 0 2 21
Mendelics 1 1 3 0 0 0 5
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 1 0 0 0 0 1
Athena Diagnostics Inc 0 0 0 0 1 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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