ClinVar Miner

List of variants in gene AP3D1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001261826.3(AP3D1):c.857-3C>T rs202003533 0.00437
NM_001261826.3(AP3D1):c.3177C>T (p.Gly1059=) rs115348240 0.00365
NM_001261826.3(AP3D1):c.810G>A (p.Thr270=) rs200136075 0.00116
NM_001261826.3(AP3D1):c.3198T>C (p.Tyr1066=) rs111908193 0.00070
NM_001261826.3(AP3D1):c.2639C>T (p.Pro880Leu) rs371796422 0.00008
NM_001261826.3(AP3D1):c.2744C>T (p.Ala915Val) rs568823322 0.00006
NM_001261826.3(AP3D1):c.3498C>T (p.Ala1166=) rs553536480 0.00005
NM_001261826.3(AP3D1):c.1035C>T (p.Ile345=)
NM_001261826.3(AP3D1):c.1689C>T (p.Ser563=)
NM_001261826.3(AP3D1):c.2220C>T (p.Asp740=)
NM_001261826.3(AP3D1):c.2645CCCCCG[2] (p.882AP[2]) rs750853882
NM_001261826.3(AP3D1):c.3265-5C>T rs534639518
NM_001261826.3(AP3D1):c.3441G>C (p.Leu1147=)
NM_001261826.3(AP3D1):c.3443C>T (p.Ala1148Val) rs756651834

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