ClinVar Miner

List of variants in gene AP5Z1 studied for not specified

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05021
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) rs11768079 0.04978
NM_014855.3(AP5Z1):c.1939-9C>T rs73305392 0.04460
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=) rs77560694 0.02284
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln) rs77890266 0.01561
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01556
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01551
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=) rs111358719 0.01503
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162 0.01129
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711 0.00977
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) rs146682319 0.00321
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) rs146915189 0.00319
NM_014855.3(AP5Z1):c.366+5C>T rs143800095 0.00227
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.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008 0.00060
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553 0.00046
NM_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln) rs199981070 0.00022
NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys) rs201478168 0.00019
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser) rs372517211 0.00018
NM_014855.3(AP5Z1):c.1601C>T (p.Ala534Val) rs764332870 0.00016
NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met) rs147369435 0.00013
NM_014855.3(AP5Z1):c.891C>T (p.Ala297=) rs763250825 0.00004
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=) rs777233282 0.00004
NM_014855.3(AP5Z1):c.1979G>A (p.Arg660Gln) rs370999116 0.00003
NM_014855.3(AP5Z1):c.744G>A (p.Ala248=) rs771896080 0.00002
NM_014855.3(AP5Z1):c.1073_1099del (p.Arg358_Val366del) rs1339701497
NM_014855.3(AP5Z1):c.1339A>G (p.Thr447Ala)
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.2112G>A (p.Thr704=) rs765844025
NM_014855.3(AP5Z1):c.2131C>T (p.Arg711Trp) rs113184057
NM_014855.3(AP5Z1):c.2278_2280dup (p.Met760dup) rs1554259059

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