ClinVar Miner

Variants from Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília

Location: Brazil  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
13 0 0 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic total
COL2A1 1 1
EIF2AK3 1 1
EZH2 1 1
FBN1 1 1
FGFR2 1 1
FGFR3 1 1
FLNB 1 1
LMX1B 1 1
NF1 1 1
RUNX2 1 1
SALL1 1 1
TP63 1 1
TRPS1 1 1

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic total
Acrocephalosyndactyly type I 1 1
Cleidocranial dysostosis 1 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1 1
Geleophysic dysplasia 2 1 1
Hypochondroplasia 1 1
Nail-patella syndrome 1 1
Neurofibromatosis, type 1 1 1
Spondylocarpotarsal synostosis syndrome 1 1
Spondyloepiphyseal dysplasia congenita 1 1
Townes-Brocks syndrome 1 1 1
Trichorhinophalangeal dysplasia type I 1 1
Weaver syndrome 1 1
Wolcott-Rallison dysplasia 1 1

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