ClinVar Miner

Variants studied for amelogenesis imperfecta type 2

Included ClinVar conditions (8):
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
40 1 158 15 10 223

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WDR72 5 0 110 14 4 133
MMP20 8 1 48 1 6 63
AMELX, ARHGAP6 11 0 0 0 0 11
ODAPH 5 0 0 0 0 5
GPR68 4 0 0 0 0 4
SLC24A4 4 0 0 0 0 4
KLK4 3 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 158 15 10 184
OMIM 32 0 0 0 0 32
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 5 0 0 0 0 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Institute of Human Genetics,University Hospital Ulm 1 0 0 0 0 1
Division of Molecular Medicine,Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 1

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