ClinVar Miner

List of variants reported as benign for amelogenesis imperfecta hypomaturation type 2A3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_182758.4(WDR72):c.1195A>C (p.Lys399Gln) rs35258188 0.01531
NM_182758.4(WDR72):c.*2081C>T rs74015391 0.01510
NM_182758.4(WDR72):c.*3225T>G rs137867992 0.00044
NM_182758.4(WDR72):c.*3423A>C rs74015386

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