ClinVar Miner

List of variants reported as benign for Amelogenesis imperfecta hypomaturation type 2A2

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.53A>C (p.Lys18Thr) rs2245803 0.64460
NM_004771.4(MMP20):c.824T>C (p.Val275Ala) rs1784423 0.39994
NM_004771.4(MMP20):c.842C>A (p.Thr281Asn) rs1784424 0.39948
NM_004771.4(MMP20):c.810C>T (p.Tyr270=) rs11225343 0.02179
NM_004771.4(MMP20):c.505A>C (p.Ile169Leu) rs17099008 0.00801
NM_004771.4(MMP20):c.*227A>C rs12278482

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