ClinVar Miner

List of variants in gene AP5Z1 reported as uncertain significance for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_014855.3(AP5Z1):c.970-5C>T rs373671779 0.00052
NM_014855.3(AP5Z1):c.874C>T (p.Arg292Trp) rs199760184 0.00036
NM_014855.3(AP5Z1):c.671C>T (p.Thr224Met) rs201862383 0.00029
NM_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln) rs199981070 0.00022
NM_014855.3(AP5Z1):c.1724T>G (p.Leu575Arg) rs562425834 0.00019
NM_014855.3(AP5Z1):c.1916G>C (p.Arg639Thr) rs201798269 0.00019
NM_014855.3(AP5Z1):c.617G>A (p.Arg206Gln) rs774461879 0.00016
NM_014855.3(AP5Z1):c.691C>T (p.Arg231Cys) rs774832344 0.00016
NM_014855.3(AP5Z1):c.2194A>C (p.Ser732Arg) rs201934980 0.00012
NM_014855.3(AP5Z1):c.196G>A (p.Val66Ile) rs369340724 0.00011
NM_014855.3(AP5Z1):c.1795G>A (p.Gly599Ser) rs369917291 0.00009
NM_014855.3(AP5Z1):c.283C>T (p.Pro95Ser) rs201836482 0.00009
NM_014855.3(AP5Z1):c.1093C>T (p.Arg365Trp) rs754300113 0.00007
NM_014855.3(AP5Z1):c.1175T>C (p.Leu392Pro) rs772560472 0.00007
NM_014855.3(AP5Z1):c.1951G>A (p.Gly651Ser) rs772049256 0.00007
NM_014855.3(AP5Z1):c.2342G>A (p.Arg781His) rs375090264 0.00007
NM_014855.3(AP5Z1):c.83T>A (p.Ile28Asn) rs747982584 0.00007
NM_014855.3(AP5Z1):c.1717G>A (p.Gly573Arg) rs746432998 0.00006
NM_014855.3(AP5Z1):c.1766C>T (p.Ser589Leu) rs765366145 0.00006
NM_014855.3(AP5Z1):c.1978C>T (p.Arg660Trp) rs377514314 0.00006
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys) rs199745141 0.00006
NM_014855.3(AP5Z1):c.2333G>A (p.Arg778His) rs759530942 0.00006
NM_014855.3(AP5Z1):c.605C>T (p.Thr202Met) rs756182519 0.00006
NM_014855.3(AP5Z1):c.623C>T (p.Pro208Leu) rs779121737 0.00006
NM_014855.3(AP5Z1):c.2105T>C (p.Met702Thr) rs777075668 0.00005
NM_014855.3(AP5Z1):c.875G>A (p.Arg292Gln) rs374130083 0.00005
NM_014855.3(AP5Z1):c.1897G>A (p.Val633Met) rs371379357 0.00004
NM_014855.3(AP5Z1):c.262G>A (p.Ala88Thr) rs773979533 0.00004
NM_014855.3(AP5Z1):c.853C>T (p.Arg285Cys) rs756733130 0.00004
NM_014855.3(AP5Z1):c.985G>A (p.Val329Met) rs764235114 0.00004
NM_014855.3(AP5Z1):c.1168C>G (p.Gln390Glu) rs377565484 0.00003
NM_014855.3(AP5Z1):c.1542C>A (p.Phe514Leu) rs1056095850 0.00003
NM_014855.3(AP5Z1):c.1588A>C (p.Thr530Pro) rs758873012 0.00003
NM_014855.3(AP5Z1):c.172A>G (p.Ser58Gly) rs756631068 0.00003
NM_014855.3(AP5Z1):c.1990G>A (p.Val664Met) rs368416368 0.00003
NM_014855.3(AP5Z1):c.2111C>T (p.Thr704Met) rs759903205 0.00003
NM_014855.3(AP5Z1):c.362C>T (p.Ala121Val) rs750649378 0.00003
NM_014855.3(AP5Z1):c.497G>A (p.Gly166Asp) rs374914983 0.00003
NM_014855.3(AP5Z1):c.511+6C>T rs770095188 0.00003
NM_014855.3(AP5Z1):c.595T>G (p.Phe199Val) rs1034440470 0.00003
NM_014855.3(AP5Z1):c.596T>G (p.Phe199Cys) rs952320860 0.00003
NM_014855.3(AP5Z1):c.880C>T (p.Arg294Trp) rs1196396832 0.00003
NM_014855.3(AP5Z1):c.1154C>T (p.Ser385Leu) rs765200689 0.00002
NM_014855.3(AP5Z1):c.1208G>A (p.Ser403Asn) rs1449129666 0.00002
NM_014855.3(AP5Z1):c.1633G>A (p.Gly545Ser) rs199938753 0.00002
NM_014855.3(AP5Z1):c.1762G>A (p.Asp588Asn) rs777150652 0.00002
NM_014855.3(AP5Z1):c.385G>T (p.Val129Phe) rs369230277 0.00002
NM_014855.3(AP5Z1):c.575G>A (p.Gly192Glu) rs752495902 0.00002
NM_014855.3(AP5Z1):c.908G>A (p.Arg303His) rs201206140 0.00002
NM_014855.3(AP5Z1):c.970-4G>A rs559842146 0.00002
NM_014855.3(AP5Z1):c.1000G>A (p.Val334Met) rs750795563 0.00001
NM_014855.3(AP5Z1):c.1135G>A (p.Glu379Lys) rs772831449 0.00001
NM_014855.3(AP5Z1):c.1159G>A (p.Ala387Thr) rs758468179 0.00001
NM_014855.3(AP5Z1):c.1381G>A (p.Gly461Ser) rs1167746595 0.00001
NM_014855.3(AP5Z1):c.1433C>T (p.Ala478Val) rs200295277 0.00001
NM_014855.3(AP5Z1):c.1450C>T (p.Leu484Phe) rs1385466825 0.00001
NM_014855.3(AP5Z1):c.1576G>A (p.Ala526Thr) rs1170984456 0.00001
NM_014855.3(AP5Z1):c.1771T>C (p.Tyr591His) rs1490632344 0.00001
NM_014855.3(AP5Z1):c.1904G>A (p.Gly635Asp) rs758214725 0.00001
NM_014855.3(AP5Z1):c.1970C>T (p.Thr657Ile) rs1243924522 0.00001
NM_014855.3(AP5Z1):c.2015A>C (p.Glu672Ala) rs370660240 0.00001
NM_014855.3(AP5Z1):c.2208C>G (p.Ser736Arg) rs1353314446 0.00001
NM_014855.3(AP5Z1):c.2231C>T (p.Ala744Val) rs776245278 0.00001
NM_014855.3(AP5Z1):c.2321T>G (p.Val774Gly) rs373188621 0.00001
NM_014855.3(AP5Z1):c.2345A>G (p.Asp782Gly) rs779642265 0.00001
NM_014855.3(AP5Z1):c.2357C>T (p.Ala786Val) rs1781765089 0.00001
NM_014855.3(AP5Z1):c.2377A>G (p.Thr793Ala) rs769712722 0.00001
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val) rs372539355 0.00001
NM_014855.3(AP5Z1):c.478G>A (p.Val160Ile) rs752115827 0.00001
NM_014855.3(AP5Z1):c.685G>A (p.Gly229Ser) rs377620768 0.00001
NM_014855.3(AP5Z1):c.778A>C (p.Thr260Pro) rs778539799 0.00001
NM_014855.3(AP5Z1):c.779C>T (p.Thr260Ile) rs894028182 0.00001
NM_014855.3(AP5Z1):c.872A>C (p.Glu291Ala) rs758765608 0.00001
NM_014855.3(AP5Z1):c.1033C>G (p.Arg345Gly)
NM_014855.3(AP5Z1):c.1036A>C (p.Ser346Arg) rs2534051217
NM_014855.3(AP5Z1):c.1069G>A (p.Val357Met)
NM_014855.3(AP5Z1):c.116C>T (p.Pro39Leu)
NM_014855.3(AP5Z1):c.1181C>T (p.Thr394Ile)
NM_014855.3(AP5Z1):c.1270C>T (p.His424Tyr)
NM_014855.3(AP5Z1):c.1315C>G (p.Leu439Val) rs113014863
NM_014855.3(AP5Z1):c.1339A>G (p.Thr447Ala) rs1037469450
NM_014855.3(AP5Z1):c.1340C>T (p.Thr447Ile)
NM_014855.3(AP5Z1):c.1378G>T (p.Ala460Ser) rs371881628
NM_014855.3(AP5Z1):c.1385C>T (p.Thr462Ile) rs535384375
NM_014855.3(AP5Z1):c.1388C>G (p.Ala463Gly) rs374115182
NM_014855.3(AP5Z1):c.1405G>A (p.Ala469Thr) rs368021131
NM_014855.3(AP5Z1):c.1406C>A (p.Ala469Glu) rs181396911
NM_014855.3(AP5Z1):c.1406C>G (p.Ala469Gly) rs181396911
NM_014855.3(AP5Z1):c.1406C>T (p.Ala469Val) rs181396911
NM_014855.3(AP5Z1):c.1415A>G (p.Asp472Gly) rs760529148
NM_014855.3(AP5Z1):c.1479G>T (p.Arg493Ser) rs1324250516
NM_014855.3(AP5Z1):c.1498C>T (p.Leu500Phe)
NM_014855.3(AP5Z1):c.1507C>T (p.Pro503Ser)
NM_014855.3(AP5Z1):c.1585G>T (p.Ala529Ser) rs535174478
NM_014855.3(AP5Z1):c.1628T>C (p.Met543Thr)
NM_014855.3(AP5Z1):c.1637G>A (p.Cys546Tyr)
NM_014855.3(AP5Z1):c.1642C>G (p.Arg548Gly) rs777692803
NM_014855.3(AP5Z1):c.1673C>T (p.Thr558Met) rs573471657
NM_014855.3(AP5Z1):c.1703C>T (p.Thr568Ile)
NM_014855.3(AP5Z1):c.1766C>G (p.Ser589Trp) rs765366145
NM_014855.3(AP5Z1):c.1768C>T (p.Leu590Phe) rs1292289534
NM_014855.3(AP5Z1):c.1786T>C (p.Tyr596His)
NM_014855.3(AP5Z1):c.1805+4G>A rs1009050478
NM_014855.3(AP5Z1):c.1822T>A (p.Phe608Ile)
NM_014855.3(AP5Z1):c.1828G>A (p.Ala610Thr) rs1216607260
NM_014855.3(AP5Z1):c.1834T>A (p.Cys612Ser)
NM_014855.3(AP5Z1):c.1891G>C (p.Gly631Arg) rs2534079415
NM_014855.3(AP5Z1):c.1906C>G (p.Leu636Val) rs867457810
NM_014855.3(AP5Z1):c.1939G>A (p.Val647Met) rs1781734792
NM_014855.3(AP5Z1):c.1954G>A (p.Glu652Lys) rs760734290
NM_014855.3(AP5Z1):c.2017G>A (p.Ala673Thr)
NM_014855.3(AP5Z1):c.2054G>C (p.Arg685Pro) rs371817388
NM_014855.3(AP5Z1):c.2066C>T (p.Ala689Val) rs1404327090
NM_014855.3(AP5Z1):c.2077T>A (p.Cys693Ser)
NM_014855.3(AP5Z1):c.2117C>T (p.Thr706Met) rs752688603
NM_014855.3(AP5Z1):c.2248C>G (p.Arg750Gly)
NM_014855.3(AP5Z1):c.2266A>T (p.Thr756Ser) rs1020726747
NM_014855.3(AP5Z1):c.2290G>A (p.Ala764Thr) rs2534083680
NM_014855.3(AP5Z1):c.2341C>T (p.Arg781Cys)
NM_014855.3(AP5Z1):c.2374C>T (p.Arg792Cys) rs374101536
NM_014855.3(AP5Z1):c.2419G>C (p.Gly807Arg) rs749354327
NM_014855.3(AP5Z1):c.279G>T (p.Met93Ile)
NM_014855.3(AP5Z1):c.317C>T (p.Thr106Met) rs566001734
NM_014855.3(AP5Z1):c.328C>G (p.Arg110Gly)
NM_014855.3(AP5Z1):c.368G>C (p.Gly123Ala) rs2534039264
NM_014855.3(AP5Z1):c.401A>G (p.Gln134Arg)
NM_014855.3(AP5Z1):c.554G>A (p.Arg185His)
NM_014855.3(AP5Z1):c.607C>G (p.Pro203Ala)
NM_014855.3(AP5Z1):c.631G>C (p.Val211Leu) rs771385792
NM_014855.3(AP5Z1):c.740G>A (p.Arg247Gln) rs774068163
NM_014855.3(AP5Z1):c.764C>T (p.Pro255Leu) rs767812395
NM_014855.3(AP5Z1):c.80G>A (p.Arg27Gln) rs768361738
NM_014855.3(AP5Z1):c.80G>T (p.Arg27Leu) rs768361738
NM_014855.3(AP5Z1):c.847G>T (p.Ala283Ser) rs753059791
NM_014855.3(AP5Z1):c.905A>G (p.Gln302Arg) rs1303845320
NM_014855.3(AP5Z1):c.925A>C (p.Asn309His) rs758467988
NM_014855.3(AP5Z1):c.935C>T (p.Ala312Val) rs377303670
NM_014855.3(AP5Z1):c.945G>C (p.Lys315Asn)
NM_014855.3(AP5Z1):c.973C>A (p.Leu325Met) rs766343074
NM_014855.3(AP5Z1):c.988C>G (p.Leu330Val) rs376680652

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