ClinVar Miner

List of variants in gene AP5Z1 reported as uncertain significance by Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) rs367867460 0.00017
NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys) rs145463842 0.00010
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln) rs750211507 0.00004
NM_014855.3(AP5Z1):c.1111G>A (p.Ala371Thr) rs376671338
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro) rs554060393

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