ClinVar Miner

Variants from Department of Medical Genetics,Oslo University Hospital

Location: Norway — Primary collection method: clinical testing
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
189 30 2 0 0 1 222

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
BRCA1 98 12 1 0 111
BRCA2 81 7 0 0 88
KLF1 2 5 0 1 8
IGHMBP2 0 4 0 0 4
BRCA1, LOC110485084, LOC111589216 3 0 0 0 3
CHRNB2 0 0 1 0 1
FBXL4 0 1 0 0 1
LPAR6, RB1 1 0 0 0 1
MED12 0 1 0 0 1
PDE6H 1 0 0 0 1
PEX5 1 0 0 0 1
STIM1 1 0 0 0 1
UBE3B 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance not provided total
Breast-ovarian cancer, familial 1 101 12 1 0 114
Breast-ovarian cancer, familial 2 81 7 0 0 88
not provided 0 5 0 1 6
Charcot-Marie-Tooth disease, axonal, type 2S 0 3 0 0 3
Spinal muscular atrophy, distal, autosomal recessive, 1 0 3 0 0 3
BLOOD GROUP--LUTHERAN INHIBITOR; Congenital dyserythropoietic anemia, type IV; Fetal hemoglobin quantitative trait locus 6 2 0 0 0 2
FG syndrome 0 1 0 0 1
Generalized seizures 0 0 1 0 1
Hypotrichosis 8 1 0 0 0 1
Kaufman oculocerebrofacial syndrome 1 0 0 0 1
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 0 1 0 0 1
Retinal cone dystrophy 3A 1 0 0 0 1
Rhizomelic chondrodysplasia punctata 1 0 0 0 1
Stormorken syndrome 1 0 0 0 1

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