ClinVar Miner

List of variants studied for Amelogenesis imperfecta hypomaturation type 2A2 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_004771.4(MMP20):c.910G>A (p.Ala304Thr) rs148818720 0.00153
NM_004771.4(MMP20):c.1139G>A (p.Arg380Gln) rs767478911 0.00001

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