ClinVar Miner

List of variants studied for Amelogenesis imperfecta hypomaturation type 2A3 by Genome-Nilou Lab

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Total variants: 8
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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.955-43C>A rs690235 0.95246
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.917C>T (p.Pro306Leu) rs551225 0.37615
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_182758.4(WDR72):c.261-8del rs34828731
NM_182758.4(WDR72):c.2872+42del rs34829468

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