ClinVar Miner

List of variants in gene AP5Z1 reported as uncertain significance by GeneDx

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp) rs374146548 0.00072
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr) rs200490093 0.00038
NM_014855.3(AP5Z1):c.671C>T (p.Thr224Met) rs201862383 0.00029
NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys) rs201478168 0.00019
NM_014855.3(AP5Z1):c.1601C>T (p.Ala534Val) rs764332870 0.00016
NM_014855.3(AP5Z1):c.691C>T (p.Arg231Cys) rs774832344 0.00016
NM_014855.3(AP5Z1):c.1567C>T (p.Arg523Cys) rs201067711 0.00015
NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His) rs201677317 0.00015
NM_014855.3(AP5Z1):c.970-12C>G rs372506896 0.00009
NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu) rs750796286 0.00007
NM_014855.3(AP5Z1):c.2054G>A (p.Arg685His) rs371817388 0.00004
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln) rs750211507 0.00004
NM_014855.3(AP5Z1):c.556T>C (p.Tyr186His) rs1000589136 0.00003
NM_014855.3(AP5Z1):c.55G>A (p.Glu19Lys) rs548498106 0.00003
NM_014855.3(AP5Z1):c.1319C>T (p.Ala440Val) rs909805784 0.00002
NM_014855.3(AP5Z1):c.2352C>A (p.Asn784Lys) rs748913228 0.00002
NM_014855.3(AP5Z1):c.1057C>G (p.Leu353Val) rs1258180928 0.00001
NM_014855.3(AP5Z1):c.1474G>A (p.Glu492Lys) rs757374186 0.00001
NM_014855.3(AP5Z1):c.1492A>G (p.Thr498Ala) rs1357485423 0.00001
NM_014855.3(AP5Z1):c.2089G>T (p.Val697Leu) rs769732363 0.00001
NM_014855.3(AP5Z1):c.2332C>T (p.Arg778Cys) rs773259805 0.00001
NM_014855.3(AP5Z1):c.1037G>C (p.Ser346Thr)
NM_014855.3(AP5Z1):c.1484T>G (p.Leu495Arg) rs2115119976
NM_014855.3(AP5Z1):c.1523C>G (p.Ala508Gly) rs370879999
NM_014855.3(AP5Z1):c.1549C>T (p.Leu517Phe)
NM_014855.3(AP5Z1):c.1772A>G (p.Tyr591Cys)
NM_014855.3(AP5Z1):c.180-3C>G
NM_014855.3(AP5Z1):c.1957T>A (p.Tyr653Asn)
NM_014855.3(AP5Z1):c.1988C>G (p.Thr663Ser) rs760640617
NM_014855.3(AP5Z1):c.2174dup (p.Met726fs)
NM_014855.3(AP5Z1):c.2209_2221dup (p.Glu741fs)
NM_014855.3(AP5Z1):c.383A>C (p.Glu128Ala)
NM_014855.3(AP5Z1):c.607C>T (p.Pro203Ser)
NM_014855.3(AP5Z1):c.616C>G (p.Arg206Gly) rs761451474
NM_014855.3(AP5Z1):c.773C>T (p.Pro258Leu)

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