ClinVar Miner

Variants studied for Pseudohypoaldosteronism type 1 autosomal dominant

Coded as:
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Gene type:
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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 total
19 4 146 129 49 346

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NR3C2 19 4 33 42 7 104
KLHL3 0 0 48 26 12 86
STX16, STX16-NPEPL1 0 0 37 33 14 84
CUL3 0 0 28 28 16 72

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 146 129 49 324
OMIM 19 0 0 0 0 19
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
Department of Pediatric Endocrinology,Cukurova University Medical Faculty 0 1 0 0 0 1

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