ClinVar Miner

List of variants in gene AP5Z1 reported as pathogenic by Paris Brain Institute, Inserm - ICM

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1323del (p.Ala440_Trp441insTer) rs2115118331
NM_014855.3(AP5Z1):c.1596-3C>G rs2115122331
NM_014855.3(AP5Z1):c.1730_1733del (p.Asn577fs) rs1189027155
NM_014855.3(AP5Z1):c.1939-1G>A rs2115128968
NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) rs397704705

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