ClinVar Miner

List of variants in gene AP5Z1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.*1670G>C rs149234202 0.00696
NM_014855.3(AP5Z1):c.*92G>A rs112283999 0.00696
NM_014855.3(AP5Z1):c.*532G>A rs527985598 0.00387
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00278
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_014855.3(AP5Z1):c.1062C>T (p.His354=) rs192441133 0.00114
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=) rs370926189 0.00112
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878 0.00092
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00079
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=) rs372922535 0.00073
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly) rs113184057 0.00073
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008 0.00060
NM_014855.3(AP5Z1):c.1043C>T (p.Ser348Phe) rs547137141 0.00044
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200 0.00030
NM_014855.3(AP5Z1):c.258C>T (p.Cys86=) rs369050534 0.00019
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) rs367867460 0.00017
NM_014855.3(AP5Z1):c.636C>T (p.Thr212=) rs777143531 0.00010
NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter) rs373919408 0.00009
NM_014855.3(AP5Z1):c.1110C>T (p.Leu370=) rs756954352 0.00006
NM_014855.3(AP5Z1):c.1527C>T (p.Phe509=) rs745794388 0.00006
NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter) rs748724870 0.00006
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln) rs750211507 0.00004
NM_014855.3(AP5Z1):c.543C>T (p.Val181=) rs1050248739 0.00004
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=) rs756140557 0.00004
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=) rs777233282 0.00004
NM_014855.3(AP5Z1):c.220G>A (p.Gly74Ser) rs748218884 0.00002
NM_014855.3(AP5Z1):c.678C>G (p.Leu226=) rs771296028 0.00002
NM_014855.3(AP5Z1):c.970-4G>A rs559842146 0.00002
NM_014855.3(AP5Z1):c.2180G>A (p.Arg727Lys) rs1250099836 0.00001
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) rs372539355 0.00001
NM_014855.3(AP5Z1):c.1018C>T (p.Pro340Ser) rs561646689
NM_014855.3(AP5Z1):c.1207A>G (p.Ser403Gly) rs1583234445
NM_014855.3(AP5Z1):c.1239C>T (p.Phe413=)
NM_014855.3(AP5Z1):c.1266C>T (p.Ser422=)
NM_014855.3(AP5Z1):c.196G>A (p.Val66Ile)
NM_014855.3(AP5Z1):c.2248C>T (p.Arg750Trp) rs376075136
NM_014855.3(AP5Z1):c.2354C>T (p.Thr785Met) rs567731124
NM_014855.3(AP5Z1):c.2356_2361dup (p.Ala786_Leu787dup) rs750719570
NM_014855.3(AP5Z1):c.2413A>G (p.Met805Val)
NM_014855.3(AP5Z1):c.420G>A (p.Leu140=)
NM_014855.3(AP5Z1):c.664T>A (p.Phe222Ile) rs1322293814
NM_014855.3(AP5Z1):c.798G>C (p.Arg266Ser)
NM_014855.3(AP5Z1):c.957C>T (p.Asp319=)

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