ClinVar Miner

Variants from Leeds Amelogenesis Imperfecta Research Group,Leeds University

Location: United Kingdom — Primary collection method: research
Minimum submission review status: Collection method:
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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 1 0 0 0 20

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic total
PEX6 7 0 7
GPR68 3 0 3
ACP4 2 0 2
DLX3 2 0 2
LAMB3 2 0 2
ENAM 0 1 1
GATAD1, PEX1 1 0 1
KLK4 1 0 1
PEX1 1 0 1

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic total
Heimler syndrome 2 7 0 7
Amelogenesis imperfecta 3 0 3
Amelogenesis imperfecta, type IA 2 0 2
Amelogenesis imperfecta, type IJ 2 0 2
Amelogenesis imperfecta, type IV; Tricho-dento-osseous syndrome 2 0 2
Deafness enamel hypoplasia nail defects 2 0 2
Amelogenesis imperfecta - hypoplastic autosomal dominant - local 0 1 1
Amelogenesis imperfecta, hypomaturation type, IIA1 1 0 1

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