ClinVar Miner

Variants from Leeds Amelogenesis Imperfecta Research Group, University of Leeds

Location: United Kingdom  Primary collection method: research
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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
44 10 2 0 0 56

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COL17A1 9 6 2 17
PEX6 7 0 0 7
PLXNB2 7 0 0 7
AMBN 2 3 0 5
MMP20 4 0 0 4
GPR68 3 0 0 3
ACP4 2 0 0 2
DLX3 2 0 0 2
LAMB3 2 0 0 2
RELT 2 0 0 2
ENAM 0 1 0 1
GATAD1, PEX1 1 0 0 1
KLK4 1 0 0 1
LOC126863184, PLXNB2 1 0 0 1
PEX1 1 0 0 1

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance total
Amelogenesis imperfecta type 1A 11 6 2 19
See cases 8 0 0 8
Heimler syndrome 2 7 0 0 7
Amelogenesis imperfecta type 1F 2 3 0 5
Amelogenesis imperfecta hypomaturation type 2A2 4 0 0 4
Amelogenesis imperfecta 3 0 0 3
Amelogenesis imperfecta, type 1J 2 0 0 2
Amelogenesis imperfecta, type 3c 2 0 0 2
Heimler syndrome 1 2 0 0 2
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism; Tricho-dento-osseous syndrome 2 0 0 2
Amelogenesis imperfecta - hypoplastic autosomal dominant - local 0 1 0 1
Amelogenesis imperfecta type 2A1 1 0 0 1

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