ClinVar Miner

Variants studied for Bartter syndrome

Included ClinVar conditions (8):
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 total
52 7 25 6 6 93

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 total
BSND 9 1 16 6 5 35
SLC12A1 12 4 2 0 1 19
KCNJ1 11 1 4 0 0 16
CLCNKB, LOC106501713 6 1 1 0 0 7
MAGED2 5 0 0 0 0 5
CASR 4 0 0 0 0 4
CLCNKA, LOC106501712 2 0 1 0 0 3
CLCNKB 3 0 0 0 0 3
CLCNKA 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 46 0 0 0 0 46
Illumina Clinical Services Laboratory,Illumina 1 2 16 6 4 29
Fulgent Genetics 0 1 2 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 2 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 2 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 1 0 0 0 0 1

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