ClinVar Miner

List of variants studied for Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) rs121908845
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe) rs121908842
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) rs121908843
NM_003722.5(TP63):c.1724A>G (p.Gln575Arg) rs2474713795
NM_003722.5(TP63):c.1802T>C (p.Ile601Thr) rs2108873266
NM_003722.5(TP63):c.1833_1843dup (p.His615fs) rs2474724873
NM_003722.5(TP63):c.740A>G (p.His247Arg) rs864621968

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