ClinVar Miner

List of variants reported as benign for Amelogenesis Imperfecta, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_182758.4(WDR72):c.298A>G (p.Met100Val) rs690346 0.95957
NM_182758.4(WDR72):c.*1054C>T rs8026294 0.94037
NM_182758.4(WDR72):c.*1932T>G rs7180991 0.94018
NM_182758.4(WDR72):c.*2497G>A rs4633660 0.91856
NM_182758.4(WDR72):c.*1898G>A rs7181293 0.91797
NM_182758.4(WDR72):c.339+9A>G rs690337 0.73805
NM_182758.4(WDR72):c.1407T>C (p.Tyr469=) rs6416452 0.59102
NM_182758.4(WDR72):c.*2808G>T rs7175105 0.53251
NM_182758.4(WDR72):c.*1739G>A rs8041208 0.37656
NM_004771.4(MMP20):c.954-16_954-15del rs144425539
NM_182758.4(WDR72):c.*2592_*2593insTTGTGT rs5812689

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