ClinVar Miner

List of variants in gene AP4B1 studied for obsolete AP4-related intellectual disability and spastic paraplegia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525 0.16017
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_001253852.3(AP4B1):c.1793-9C>G rs17031980 0.00589
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695 0.00525
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00406
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00163
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile) rs143286419 0.00130
NM_001253852.3(AP4B1):c.898G>T (p.Val300Leu) rs111785152 0.00118
NM_001253852.3(AP4B1):c.339-15G>A rs529490243 0.00056
NM_001253852.3(AP4B1):c.217T>A (p.Cys73Ser) rs552888524 0.00053
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu) rs183034705 0.00051
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=) rs34778731 0.00051
NM_001253852.3(AP4B1):c.570A>G (p.Glu190=) rs139775124 0.00050
NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr) rs149335605 0.00049
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg) rs201047107 0.00037
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=) rs146053295 0.00037
NM_001253852.3(AP4B1):c.389G>A (p.Arg130Gln) rs147043117 0.00036
NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=) rs143354033 0.00031
NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr) rs200590674 0.00028
NM_001253852.3(AP4B1):c.1843T>G (p.Ser615Ala) rs148748734 0.00023
NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu) rs142732858 0.00020
NM_001253852.3(AP4B1):c.373A>G (p.Ile125Val) rs143769705 0.00014
NM_001253852.3(AP4B1):c.1042G>A (p.Val348Met) rs150622512 0.00011
NM_001253852.3(AP4B1):c.1148T>C (p.Val383Ala) rs757927686 0.00010
NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe) rs147573619 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001253852.3(AP4B1):c.1865C>T (p.Pro622Leu) rs767679115 0.00008
NM_001253852.3(AP4B1):c.1868A>G (p.Asn623Ser) rs201876159 0.00008
NM_001253852.3(AP4B1):c.2200A>G (p.Ile734Val) rs79050956 0.00008
NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp) rs752781534 0.00007
NM_001253852.3(AP4B1):c.1302+11A>G rs772397695 0.00006
NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp) rs745939325 0.00006
NM_001253852.3(AP4B1):c.617+17A>G rs201080805 0.00006
NM_001253852.3(AP4B1):c.909C>A (p.Ile303=) rs147184856 0.00006
NM_001253852.3(AP4B1):c.232C>T (p.Leu78=) rs760117027 0.00005
NM_001253852.3(AP4B1):c.358T>A (p.Tyr120Asn) rs138880168 0.00005
NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=) rs373289645 0.00004
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln) rs753638648 0.00004
NM_001253852.3(AP4B1):c.1303-11T>C rs368931895 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys) rs200276550 0.00004
NM_001253852.3(AP4B1):c.1559G>A (p.Arg520His) rs763842373 0.00004
NM_001253852.3(AP4B1):c.172G>C (p.Ala58Pro) rs754770476 0.00004
NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His) rs530540257 0.00004
NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro) rs569988158 0.00004
NM_001253852.3(AP4B1):c.1870C>T (p.Arg624Cys) rs368828060 0.00004
NM_001253852.3(AP4B1):c.2151G>A (p.Thr717=) rs145170032 0.00004
NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro) rs149478319 0.00004
NM_001253852.3(AP4B1):c.267G>A (p.Thr89=) rs779754710 0.00004
NM_001253852.3(AP4B1):c.470-20A>G rs577971063 0.00004
NM_001253852.3(AP4B1):c.682C>T (p.Arg228Cys) rs371514044 0.00004
NM_001253852.3(AP4B1):c.891T>C (p.Leu297=) rs377589103 0.00004
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=) rs763730264 0.00003
NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val) rs143389123 0.00003
NM_001253852.3(AP4B1):c.114-9G>A rs186195199 0.00003
NM_001253852.3(AP4B1):c.1217G>A (p.Arg406Gln) rs145803736 0.00003
NM_001253852.3(AP4B1):c.1507A>G (p.Ile503Val) rs1230787334 0.00003
NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu) rs149723440 0.00003
NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala) rs151293980 0.00003
NM_001253852.3(AP4B1):c.2150C>T (p.Thr717Met) rs199879996 0.00003
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp) rs74361335 0.00003
NM_001253852.3(AP4B1):c.323G>A (p.Ser108Asn) rs1157647320 0.00003
NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp) rs550100552 0.00003
NM_001253852.3(AP4B1):c.787G>A (p.Ala263Thr) rs760880631 0.00003
NM_001253852.3(AP4B1):c.1356T>C (p.Asn452=) rs144215222 0.00002
NM_001253852.3(AP4B1):c.1460G>A (p.Arg487Gln) rs375080258 0.00002
NM_001253852.3(AP4B1):c.1489C>T (p.Arg497Cys) rs756404463 0.00002
NM_001253852.3(AP4B1):c.1535G>A (p.Arg512Gln) rs754458814 0.00002
NM_001253852.3(AP4B1):c.159G>A (p.Met53Ile) rs778624334 0.00002
NM_001253852.3(AP4B1):c.1642C>A (p.Pro548Thr) rs866175993 0.00002
NM_001253852.3(AP4B1):c.1679T>G (p.Phe560Cys) rs780654750 0.00002
NM_001253852.3(AP4B1):c.1687C>T (p.Leu563=) rs752469657 0.00002
NM_001253852.3(AP4B1):c.2007C>T (p.Ile669=) rs146869083 0.00002
NM_001253852.3(AP4B1):c.2030G>A (p.Arg677Gln) rs752940030 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001253852.3(AP4B1):c.670C>T (p.Arg224Cys) rs138216814 0.00002
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter) rs746462207 0.00002
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter) rs138335735 0.00001
NM_001253852.3(AP4B1):c.1111A>G (p.Ile371Val) rs797045242 0.00001
NM_001253852.3(AP4B1):c.1114+9C>T rs1478207935 0.00001
NM_001253852.3(AP4B1):c.1115-2A>G rs1210851910 0.00001
NM_001253852.3(AP4B1):c.114-2A>G rs879255396 0.00001
NM_001253852.3(AP4B1):c.1144T>C (p.Cys382Arg) rs781635999 0.00001
NM_001253852.3(AP4B1):c.1215C>T (p.Phe405=) rs759899315 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001253852.3(AP4B1):c.1273G>A (p.Gly425Ser) rs777033290 0.00001
NM_001253852.3(AP4B1):c.1284G>A (p.Glu428=) rs752215351 0.00001
NM_001253852.3(AP4B1):c.1526T>C (p.Met509Thr) rs1043676103 0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter) rs767220480 0.00001
NM_001253852.3(AP4B1):c.1553A>G (p.Tyr518Cys) rs1265334140 0.00001
NM_001253852.3(AP4B1):c.1697T>C (p.Val566Ala) rs373733045 0.00001
NM_001253852.3(AP4B1):c.1744G>A (p.Glu582Lys) rs779319072 0.00001
NM_001253852.3(AP4B1):c.1839T>G (p.Pro613=) rs549517422 0.00001
NM_001253852.3(AP4B1):c.2066C>T (p.Thr689Ile) rs768141876 0.00001
NM_001253852.3(AP4B1):c.211T>C (p.Tyr71His) rs1186934233 0.00001
NM_001253852.3(AP4B1):c.2145A>T (p.Ala715=) rs969793953 0.00001
NM_001253852.3(AP4B1):c.215T>C (p.Met72Thr) rs566369623 0.00001
NM_001253852.3(AP4B1):c.222A>G (p.Thr74=) rs1439180952 0.00001
NM_001253852.3(AP4B1):c.266C>T (p.Thr89Met) rs1454940627 0.00001
NM_001253852.3(AP4B1):c.372T>C (p.Pro124=) rs1668308067 0.00001
NM_001253852.3(AP4B1):c.506G>A (p.Arg169His) rs144490934 0.00001
NM_001253852.3(AP4B1):c.594C>T (p.Pro198=) rs766215887 0.00001
NM_001253852.3(AP4B1):c.616C>G (p.Arg206Gly) rs762612591 0.00001
NM_001253852.3(AP4B1):c.617+16C>T rs1046613270 0.00001
NM_001253852.3(AP4B1):c.618-16T>G rs772575711 0.00001
NM_001253852.3(AP4B1):c.618-3T>C rs755780191 0.00001
NM_001253852.3(AP4B1):c.671G>A (p.Arg224His) rs968023503 0.00001
NM_001253852.3(AP4B1):c.749G>A (p.Gly250Asp) rs778029639 0.00001
NM_001253852.3(AP4B1):c.804C>T (p.His268=) rs762267301 0.00001
NM_001253852.3(AP4B1):c.924A>G (p.Pro308=) rs1256078127 0.00001
NC_000001.11:g.(?_113895055)_(113900410_?)dup
NM_001253852.3(AP4B1):c.1023C>T (p.Asn341=)
NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)
NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)
NM_001253852.3(AP4B1):c.1067G>T (p.Cys356Phe) rs770948820
NM_001253852.3(AP4B1):c.1075G>A (p.Val359Met)
NM_001253852.3(AP4B1):c.1076T>G (p.Val359Gly) rs1668009628
NM_001253852.3(AP4B1):c.1106_1114+8del
NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)
NM_001253852.3(AP4B1):c.1114+14C>T
NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)
NM_001253852.3(AP4B1):c.114-10C>T rs200301524
NM_001253852.3(AP4B1):c.114-13G>T
NM_001253852.3(AP4B1):c.114-14T>C
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1163A>C (p.Glu388Ala) rs1667823558
NM_001253852.3(AP4B1):c.1177C>A (p.Arg393=)
NM_001253852.3(AP4B1):c.1181A>C (p.Gln394Pro)
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs) rs2101015147
NM_001253852.3(AP4B1):c.1198+5T>C rs1276393155
NM_001253852.3(AP4B1):c.1198+7C>A
NM_001253852.3(AP4B1):c.1199-13G>A
NM_001253852.3(AP4B1):c.1199-18C>T
NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)
NM_001253852.3(AP4B1):c.1258T>C (p.Cys420Arg) rs1227614224
NM_001253852.3(AP4B1):c.1272C>T (p.Pro424=) rs759742089
NM_001253852.3(AP4B1):c.1294G>A (p.Asp432Asn) rs1667689616
NM_001253852.3(AP4B1):c.1302+8G>A rs2101008518
NM_001253852.3(AP4B1):c.1317dup (p.Ile440fs)
NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)
NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)
NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg) rs748049847
NM_001253852.3(AP4B1):c.1342G>A (p.Glu448Lys) rs2100998541
NM_001253852.3(AP4B1):c.1357G>T (p.Ala453Ser) rs2100998376
NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter) rs114201291
NM_001253852.3(AP4B1):c.1444C>T (p.Arg482Cys)
NM_001253852.3(AP4B1):c.1459C>A (p.Arg487=)
NM_001253852.3(AP4B1):c.1459C>T (p.Arg487Ter) rs771888480
NM_001253852.3(AP4B1):c.1463C>A (p.Pro488His)
NM_001253852.3(AP4B1):c.1466C>G (p.Ala489Gly) rs1667457042
NM_001253852.3(AP4B1):c.1474C>G (p.Gln492Glu) rs1054252163
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs) rs1553257236
NM_001253852.3(AP4B1):c.1494G>C (p.Leu498Phe) rs1440975141
NM_001253852.3(AP4B1):c.1499A>G (p.Tyr500Cys) rs1667452008
NM_001253852.3(AP4B1):c.1510+12A>G
NM_001253852.3(AP4B1):c.1510+2T>C rs1667449135
NM_001253852.3(AP4B1):c.1511-19A>G
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs) rs1667419336
NM_001253852.3(AP4B1):c.1560C>T (p.Arg520=)
NM_001253852.3(AP4B1):c.1576A>G (p.Ile526Val)
NM_001253852.3(AP4B1):c.1585G>A (p.Val529Ile)
NM_001253852.3(AP4B1):c.1588A>G (p.Lys530Glu)
NM_001253852.3(AP4B1):c.1596T>C (p.Ile532=) rs2100995308
NM_001253852.3(AP4B1):c.1608T>A (p.Pro536=) rs1558079074
NM_001253852.3(AP4B1):c.1612del (p.Ser538fs)
NM_001253852.3(AP4B1):c.1633T>C (p.Leu545=) rs2100995025
NM_001253852.3(AP4B1):c.1644G>A (p.Pro548=)
NM_001253852.3(AP4B1):c.1660A>T (p.Asn554Tyr) rs2100994814
NM_001253852.3(AP4B1):c.1696G>C (p.Val566Leu) rs2100994599
NM_001253852.3(AP4B1):c.1703G>A (p.Gly568Asp) rs759495705
NM_001253852.3(AP4B1):c.1708G>A (p.Ala570Thr)
NM_001253852.3(AP4B1):c.1724T>G (p.Ile575Ser)
NM_001253852.3(AP4B1):c.1739G>T (p.Gly580Val) rs762174414
NM_001253852.3(AP4B1):c.1747C>T (p.Arg583Cys)
NM_001253852.3(AP4B1):c.176C>G (p.Thr59Ser)
NM_001253852.3(AP4B1):c.1786G>A (p.Ala596Thr)
NM_001253852.3(AP4B1):c.1792+11T>C
NM_001253852.3(AP4B1):c.1792+8C>T
NM_001253852.3(AP4B1):c.1819G>C (p.Glu607Gln) rs1166699876
NM_001253852.3(AP4B1):c.1821G>A (p.Glu607=)
NM_001253852.3(AP4B1):c.182A>T (p.Asp61Val)
NM_001253852.3(AP4B1):c.183T>C (p.Asp61=)
NM_001253852.3(AP4B1):c.1863C>G (p.Val621=)
NM_001253852.3(AP4B1):c.1870C>G (p.Arg624Gly) rs368828060
NM_001253852.3(AP4B1):c.1899A>G (p.Lys633=)
NM_001253852.3(AP4B1):c.1901C>G (p.Thr634Ser)
NM_001253852.3(AP4B1):c.1919T>G (p.Val640Gly)
NM_001253852.3(AP4B1):c.1922C>T (p.Ala641Val) rs1667332064
NM_001253852.3(AP4B1):c.1926T>C (p.His642=) rs1480000484
NM_001253852.3(AP4B1):c.1931A>G (p.Gln644Arg) rs1667330271
NM_001253852.3(AP4B1):c.1939C>G (p.Pro647Ala)
NM_001253852.3(AP4B1):c.1962T>C (p.Pro654=) rs1667327766
NM_001253852.3(AP4B1):c.1981C>A (p.Leu661Ile) rs1667326839
NM_001253852.3(AP4B1):c.198G>C (p.Lys66Asn) rs374241047
NM_001253852.3(AP4B1):c.199T>C (p.Leu67=)
NM_001253852.3(AP4B1):c.2020G>T (p.Ala674Ser) rs769479430
NM_001253852.3(AP4B1):c.202G>A (p.Val68Ile)
NM_001253852.3(AP4B1):c.2040A>G (p.Lys680=)
NM_001253852.3(AP4B1):c.207T>C (p.Tyr69=)
NM_001253852.3(AP4B1):c.2082A>T (p.Leu694Phe) rs1553256829
NM_001253852.3(AP4B1):c.2083A>C (p.Thr695Pro)
NM_001253852.3(AP4B1):c.2099A>T (p.Glu700Val) rs768308955
NM_001253852.3(AP4B1):c.2123_2133del (p.Ile708fs)
NM_001253852.3(AP4B1):c.2131A>C (p.Lys711Gln)
NM_001253852.3(AP4B1):c.2162A>G (p.Asn721Ser)
NM_001253852.3(AP4B1):c.2179T>C (p.Leu727=)
NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter) rs2101044378
NM_001253852.3(AP4B1):c.2211A>G (p.Ile737Met)
NM_001253852.3(AP4B1):c.229C>T (p.Pro77Ser)
NM_001253852.3(AP4B1):c.298A>G (p.Met100Val) rs752682155
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs) rs797045244
NM_001253852.3(AP4B1):c.313del (p.Ala105fs) rs587783179
NM_001253852.3(AP4B1):c.320G>A (p.Arg107Gln)
NM_001253852.3(AP4B1):c.323G>T (p.Ser108Ile)
NM_001253852.3(AP4B1):c.336C>T (p.Leu112=) rs1461336598
NM_001253852.3(AP4B1):c.337A>G (p.Arg113Gly) rs1668423302
NM_001253852.3(AP4B1):c.338+19G>C rs2101043152
NM_001253852.3(AP4B1):c.338+20_338+23del rs537405509
NM_001253852.3(AP4B1):c.338+5G>A rs1019204290
NM_001253852.3(AP4B1):c.339-16A>C rs766923052
NM_001253852.3(AP4B1):c.339-7T>C
NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter) rs1013939776
NM_001253852.3(AP4B1):c.388_389dup (p.Asp131fs)
NM_001253852.3(AP4B1):c.402A>T (p.Ser134=) rs34751342
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer) rs1553259463
NM_001253852.3(AP4B1):c.412A>G (p.Arg138Gly) rs943287870
NM_001253852.3(AP4B1):c.426T>C (p.Leu142=)
NM_001253852.3(AP4B1):c.444dup (p.Asn149Ter)
NM_001253852.3(AP4B1):c.445A>T (p.Asn149Tyr)
NM_001253852.3(AP4B1):c.456A>C (p.Gly152=)
NM_001253852.3(AP4B1):c.469+17C>A
NM_001253852.3(AP4B1):c.470-14G>A
NM_001253852.3(AP4B1):c.470-6T>G
NM_001253852.3(AP4B1):c.480G>C (p.Leu160=)
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer) rs2101035173
NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser) rs753402898
NM_001253852.3(AP4B1):c.512A>G (p.Gln171Arg)
NM_001253852.3(AP4B1):c.521T>C (p.Ile174Thr)
NM_001253852.3(AP4B1):c.529_531del (p.Val177del)
NM_001253852.3(AP4B1):c.559C>A (p.Leu187Met)
NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile) rs1553259191
NM_001253852.3(AP4B1):c.579_581del (p.Val194del) rs750563520
NM_001253852.3(AP4B1):c.587A>G (p.Asn196Ser) rs1571569612
NM_001253852.3(AP4B1):c.602A>G (p.His201Arg)
NM_001253852.3(AP4B1):c.612A>G (p.Leu204=)
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter) rs762612591
NM_001253852.3(AP4B1):c.617+8T>C rs2101034096
NM_001253852.3(AP4B1):c.618-12T>C
NM_001253852.3(AP4B1):c.639G>T (p.Trp213Cys)
NM_001253852.3(AP4B1):c.654A>G (p.Val218=)
NM_001253852.3(AP4B1):c.664del (p.Leu222fs) rs1571563769
NM_001253852.3(AP4B1):c.678A>C (p.Gln226His)
NM_001253852.3(AP4B1):c.778C>A (p.Leu260Met)
NM_001253852.3(AP4B1):c.783C>A (p.Ile261=) rs1352725563
NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)
NM_001253852.3(AP4B1):c.820C>T (p.Leu274Phe)
NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)
NM_001253852.3(AP4B1):c.880T>C (p.Phe294Leu) rs541013298
NM_001253852.3(AP4B1):c.901C>T (p.Arg301Cys)
NM_001253852.3(AP4B1):c.902G>A (p.Arg301His)
NM_001253852.3(AP4B1):c.926del (p.Gly309fs) rs2101025777
NM_001253852.3(AP4B1):c.939C>T (p.Ser313=)
NM_001253852.3(AP4B1):c.952T>C (p.Phe318Leu)
NM_001253852.3(AP4B1):c.962C>T (p.Ser321Phe) rs1280737712
NM_001253852.3(AP4B1):c.967del (p.Ser323fs) rs745580319
NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter) rs2101024933
NM_006594.5:c.667del rs2101027843

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