ClinVar Miner

Variants from Institute of Human Genetics,University Hospital Ulm

Location: Germany — Primary collection method: research
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
10 0 0 0 0 10

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic total
BRF1 4 4
EDAR, RANBP2 2 2
CCN6 1 1
MLPH 1 1
SLC24A4 1 1
WNT10A 1 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic total
cerebellar-facial-dental syndrome 4 4
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2 2
Amelogenesis imperfecta, hypomaturation type IIA5 1 1
Griscelli syndrome type 3 1 1
Progressive pseudorheumatoid dysplasia 1 1
Tooth agenesis, selective, 4 1 1

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