ClinVar Miner

List of variants in gene combination AP3B2, CPEB1 reported as likely benign for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 399
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HGVS dbSNP gnomAD frequency
NM_001278512.2(AP3B2):c.3009G>A (p.Lys1003=) rs184007787 0.00278
NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr) rs147455569 0.00104
NM_001278512.2(AP3B2):c.189G>A (p.Ala63=) rs145841558 0.00096
NM_001278512.2(AP3B2):c.855G>A (p.Thr285=) rs377638665 0.00096
NM_001278512.2(AP3B2):c.2394C>T (p.Ser798=) rs189447069 0.00076
NM_001278512.2(AP3B2):c.2349C>T (p.Ser783=) rs143109436 0.00067
NM_001278512.2(AP3B2):c.3211C>T (p.Arg1071Trp) rs35816065 0.00066
NM_001278512.2(AP3B2):c.3016+8C>G rs374508854 0.00060
NM_001278512.2(AP3B2):c.3138G>A (p.Gly1046=) rs192273476 0.00053
NM_001278512.2(AP3B2):c.3124C>A (p.Arg1042Ser) rs184339082 0.00049
NM_001278512.2(AP3B2):c.264+8C>A rs370815736 0.00046
NM_001278512.2(AP3B2):c.2988G>A (p.Met996Ile) rs376398184 0.00044
NM_001278512.2(AP3B2):c.1728C>T (p.Arg576=) rs34585442 0.00043
NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln) rs529642370 0.00043
NM_001278512.2(AP3B2):c.2484T>C (p.Leu828=) rs113912121 0.00040
NM_001278512.2(AP3B2):c.1183-19T>G rs377729111 0.00036
NM_001278512.2(AP3B2):c.309G>A (p.Glu103=) rs142080998 0.00036
NM_001278512.2(AP3B2):c.768G>A (p.Gln256=) rs200054813 0.00031
NM_001278512.2(AP3B2):c.1111-5G>A rs374654361 0.00030
NM_001278512.2(AP3B2):c.954C>G (p.Ala318=) rs759070906 0.00029
NM_001278512.2(AP3B2):c.2601G>A (p.Pro867=) rs372227718 0.00023
NM_001278512.2(AP3B2):c.588G>C (p.Thr196=) rs202130220 0.00020
NM_001278512.2(AP3B2):c.3155+9C>A rs375416338 0.00019
NM_001278512.2(AP3B2):c.3264C>T (p.Gly1088=) rs367638774 0.00018
NM_001278512.2(AP3B2):c.361-8G>C rs201123361 0.00018
NM_001278512.2(AP3B2):c.243C>T (p.Asn81=) rs199578774 0.00016
NM_001278512.2(AP3B2):c.957G>A (p.Ala319=) rs773263641 0.00015
NM_001278512.2(AP3B2):c.2605-19C>T rs367923163 0.00011
NM_001278512.2(AP3B2):c.1143C>T (p.Tyr381=) rs755651127 0.00010
NM_001278512.2(AP3B2):c.2918+15C>T rs367652021 0.00010
NM_001278512.2(AP3B2):c.2940C>T (p.Tyr980=) rs199749431 0.00009
NM_001278512.2(AP3B2):c.357A>G (p.Leu119=) rs370984933 0.00008
NM_001278512.2(AP3B2):c.1666-10G>C rs749556897 0.00007
NM_001278512.2(AP3B2):c.504C>T (p.Ala168=) rs377122592 0.00007
NM_001278512.2(AP3B2):c.264+11C>T rs756274395 0.00006
NM_001278512.2(AP3B2):c.3015G>A (p.Gln1005=) rs766114944 0.00006
NM_001278512.2(AP3B2):c.3017-16C>T rs190462067 0.00006
NM_001278512.2(AP3B2):c.1605T>C (p.Asp535=) rs756711154 0.00005
NM_001278512.2(AP3B2):c.1666-19C>G rs370046999 0.00005
NM_001278512.2(AP3B2):c.2262-10A>G rs549281484 0.00005
NM_001278512.2(AP3B2):c.2328G>A (p.Ala776=) rs751290984 0.00005
NM_001278512.2(AP3B2):c.969G>C (p.Ala323=) rs771821182 0.00005
NM_001278512.2(AP3B2):c.1209T>C (p.Asn403=) rs369371843 0.00004
NM_001278512.2(AP3B2):c.1852+9T>C rs367649965 0.00004
NM_001278512.2(AP3B2):c.2121G>A (p.Thr707=) rs144115850 0.00004
NM_001278512.2(AP3B2):c.2262-7C>T rs763684214 0.00004
NM_001278512.2(AP3B2):c.2697A>G (p.Gln899=) rs765658666 0.00004
NM_001278512.2(AP3B2):c.2968C>T (p.Leu990=) rs558558434 0.00004
NM_001278512.2(AP3B2):c.1038C>T (p.Arg346=) rs1373471918 0.00003
NM_001278512.2(AP3B2):c.114-4C>T rs779484120 0.00003
NM_001278512.2(AP3B2):c.117T>C (p.His39=) rs377065232 0.00003
NM_001278512.2(AP3B2):c.1245+8C>A rs772298851 0.00003
NM_001278512.2(AP3B2):c.1524C>T (p.Ile508=) rs201407449 0.00003
NM_001278512.2(AP3B2):c.2778T>C (p.His926=) rs527906371 0.00003
NM_001278512.2(AP3B2):c.589-20C>A rs752080767 0.00003
NM_001278512.2(AP3B2):c.934C>T (p.Leu312=) rs764544475 0.00003
NM_001278512.2(AP3B2):c.993G>A (p.Leu331=) rs750446887 0.00003
NM_001278512.2(AP3B2):c.1056-6C>T rs757256314 0.00002
NM_001278512.2(AP3B2):c.1379-6C>G rs1030446693 0.00002
NM_001278512.2(AP3B2):c.1620G>A (p.Gln540=) rs374398150 0.00002
NM_001278512.2(AP3B2):c.1852+7G>A rs1191927129 0.00002
NM_001278512.2(AP3B2):c.2127C>T (p.Ser709=) rs371390968 0.00002
NM_001278512.2(AP3B2):c.2169G>A (p.Lys723=) rs764469534 0.00002
NM_001278512.2(AP3B2):c.2211C>T (p.Ser737=) rs777749271 0.00002
NM_001278512.2(AP3B2):c.2313G>A (p.Glu771=) rs770270397 0.00002
NM_001278512.2(AP3B2):c.231G>A (p.Ala77=) rs558339904 0.00002
NM_001278512.2(AP3B2):c.2388G>A (p.Ser796=) rs775472691 0.00002
NM_001278512.2(AP3B2):c.2622G>A (p.Ser874=) rs199545975 0.00002
NM_001278512.2(AP3B2):c.2661C>T (p.Gly887=) rs774248055 0.00002
NM_001278512.2(AP3B2):c.2757T>C (p.Asp919=) rs771210136 0.00002
NM_001278512.2(AP3B2):c.2918+16G>A rs719334 0.00002
NM_001278512.2(AP3B2):c.3017-15G>A rs771782287 0.00002
NM_001278512.2(AP3B2):c.772-18G>A rs745791019 0.00002
NM_001278512.2(AP3B2):c.1002G>A (p.Lys334=) rs1210580317 0.00001
NM_001278512.2(AP3B2):c.1011G>A (p.Val337=) rs1300787854 0.00001
NM_001278512.2(AP3B2):c.1053C>T (p.His351=) rs1177973989 0.00001
NM_001278512.2(AP3B2):c.1104G>A (p.Lys368=) rs753401017 0.00001
NM_001278512.2(AP3B2):c.1110+17G>A rs986085559 0.00001
NM_001278512.2(AP3B2):c.1155C>T (p.Thr385=) rs766997531 0.00001
NM_001278512.2(AP3B2):c.1183-11C>A rs371253222 0.00001
NM_001278512.2(AP3B2):c.1246-7C>T rs752677808 0.00001
NM_001278512.2(AP3B2):c.1489-6C>T rs1485151885 0.00001
NM_001278512.2(AP3B2):c.1683G>A (p.Gln561=) rs1211978142 0.00001
NM_001278512.2(AP3B2):c.1852+12A>G rs779588672 0.00001
NM_001278512.2(AP3B2):c.189+7G>A rs759618803 0.00001
NM_001278512.2(AP3B2):c.1971+7G>A rs768933338 0.00001
NM_001278512.2(AP3B2):c.2094G>A (p.Ser698=) rs751702098 0.00001
NM_001278512.2(AP3B2):c.2160G>A (p.Ser720=) rs748172513 0.00001
NM_001278512.2(AP3B2):c.2376C>T (p.Ser792=) rs766189809 0.00001
NM_001278512.2(AP3B2):c.2436+11T>G rs970005095 0.00001
NM_001278512.2(AP3B2):c.2604+14A>C rs770329227 0.00001
NM_001278512.2(AP3B2):c.2605-16T>C rs1198464773 0.00001
NM_001278512.2(AP3B2):c.2605-17C>T rs367919406 0.00001
NM_001278512.2(AP3B2):c.265-9C>T rs773056650 0.00001
NM_001278512.2(AP3B2):c.2691C>T (p.Ser897=) rs373913491 0.00001
NM_001278512.2(AP3B2):c.2826C>T (p.Pro942=) rs755877139 0.00001
NM_001278512.2(AP3B2):c.2833+20G>A rs1207603408 0.00001
NM_001278512.2(AP3B2):c.3090G>C (p.Val1030=) rs370335674 0.00001
NM_001278512.2(AP3B2):c.3155+12C>A rs1482545694 0.00001
NM_001278512.2(AP3B2):c.3193C>T (p.Leu1065=) rs376892730 0.00001
NM_001278512.2(AP3B2):c.3246C>T (p.Ser1082=) rs540715932 0.00001
NM_001278512.2(AP3B2):c.3273G>A (p.Leu1091=) rs533225118 0.00001
NM_001278512.2(AP3B2):c.384C>T (p.Ala128=) rs546533086 0.00001
NM_001278512.2(AP3B2):c.666G>A (p.Arg222=) rs374426997 0.00001
NM_001278512.2(AP3B2):c.711G>T (p.Val237=) rs760029851 0.00001
NM_001278512.2(AP3B2):c.756G>C (p.Leu252=) rs771566020 0.00001
NM_001278512.2(AP3B2):c.960G>C (p.Val320=) rs770836675 0.00001
NM_001278512.2(AP3B2):c.1026G>A (p.Lys342=)
NM_001278512.2(AP3B2):c.1029G>A (p.Ala343=) rs2151440769
NM_001278512.2(AP3B2):c.1032G>A (p.Leu344=)
NM_001278512.2(AP3B2):c.1032G>C (p.Leu344=) rs538786696
NM_001278512.2(AP3B2):c.1044G>A (p.Leu348=)
NM_001278512.2(AP3B2):c.1056-10C>T
NM_001278512.2(AP3B2):c.1056-11C>T
NM_001278512.2(AP3B2):c.1056-16C>T
NM_001278512.2(AP3B2):c.1068C>T (p.Tyr356=)
NM_001278512.2(AP3B2):c.1074G>A (p.Val358=)
NM_001278512.2(AP3B2):c.1080G>A (p.Gln360=)
NM_001278512.2(AP3B2):c.1110+15G>A
NM_001278512.2(AP3B2):c.1110+16C>T
NM_001278512.2(AP3B2):c.1110+19G>A
NM_001278512.2(AP3B2):c.1110+20C>A
NM_001278512.2(AP3B2):c.1111-11T>C
NM_001278512.2(AP3B2):c.1111-12C>T
NM_001278512.2(AP3B2):c.1111-4C>T rs2151440196
NM_001278512.2(AP3B2):c.1111-8T>C rs778431297
NM_001278512.2(AP3B2):c.1128C>T (p.Tyr376=)
NM_001278512.2(AP3B2):c.114-8C>T
NM_001278512.2(AP3B2):c.1161C>A (p.Pro387=)
NM_001278512.2(AP3B2):c.1173G>A (p.Lys391=)
NM_001278512.2(AP3B2):c.1182+18G>A
NM_001278512.2(AP3B2):c.1182+20G>A
NM_001278512.2(AP3B2):c.1182+9G>C
NM_001278512.2(AP3B2):c.1194G>A (p.Leu398=)
NM_001278512.2(AP3B2):c.1197C>G (p.Thr399=)
NM_001278512.2(AP3B2):c.1218C>T (p.Asn406=)
NM_001278512.2(AP3B2):c.1245+14C>T
NM_001278512.2(AP3B2):c.1245+16C>G
NM_001278512.2(AP3B2):c.1246-12C>G
NM_001278512.2(AP3B2):c.1246-15T>C
NM_001278512.2(AP3B2):c.1246-9A>C
NM_001278512.2(AP3B2):c.1248C>T (p.Thr416=)
NM_001278512.2(AP3B2):c.1278G>A (p.Val426=)
NM_001278512.2(AP3B2):c.1317C>T (p.Asn439=)
NM_001278512.2(AP3B2):c.1335C>T (p.Asp445=)
NM_001278512.2(AP3B2):c.1350C>T (p.Gly450=)
NM_001278512.2(AP3B2):c.1363C>T (p.Leu455=)
NM_001278512.2(AP3B2):c.1365G>C (p.Leu455=)
NM_001278512.2(AP3B2):c.1371C>T (p.Asn457=)
NM_001278512.2(AP3B2):c.1378+15_1378+16delinsAC rs2151438789
NM_001278512.2(AP3B2):c.1379-16C>G
NM_001278512.2(AP3B2):c.1379-19A>G
NM_001278512.2(AP3B2):c.1379-4G>A
NM_001278512.2(AP3B2):c.1379-7T>C
NM_001278512.2(AP3B2):c.1404C>T (p.Val468=) rs371731114
NM_001278512.2(AP3B2):c.1422A>G (p.Leu474=) rs2048260507
NM_001278512.2(AP3B2):c.1437A>C (p.Ala479=)
NM_001278512.2(AP3B2):c.1443T>C (p.His481=)
NM_001278512.2(AP3B2):c.1449G>A (p.Glu483=)
NM_001278512.2(AP3B2):c.1476A>G (p.Thr492=) rs764338728
NM_001278512.2(AP3B2):c.1482C>T (p.Asn494=)
NM_001278512.2(AP3B2):c.1488+13C>T
NM_001278512.2(AP3B2):c.1488+15A>G
NM_001278512.2(AP3B2):c.1488+18T>C
NM_001278512.2(AP3B2):c.1489-12C>T
NM_001278512.2(AP3B2):c.1489-15C>T
NM_001278512.2(AP3B2):c.1489-5C>T
NM_001278512.2(AP3B2):c.1489-7del rs769096492
NM_001278512.2(AP3B2):c.1494C>T (p.Pro498=)
NM_001278512.2(AP3B2):c.1542T>C (p.His514=)
NM_001278512.2(AP3B2):c.1545C>G (p.Val515=)
NM_001278512.2(AP3B2):c.1593A>G (p.Thr531=)
NM_001278512.2(AP3B2):c.1599G>A (p.Glu533=)
NM_001278512.2(AP3B2):c.1602G>A (p.Glu534=)
NM_001278512.2(AP3B2):c.1623C>T (p.Val541=)
NM_001278512.2(AP3B2):c.1632G>C (p.Leu544=)
NM_001278512.2(AP3B2):c.1644C>T (p.Leu548=)
NM_001278512.2(AP3B2):c.1656C>T (p.Asn552=) rs2048244140
NM_001278512.2(AP3B2):c.1665+10A>G
NM_001278512.2(AP3B2):c.1665+11A>C
NM_001278512.2(AP3B2):c.1665+16_1665+18del
NM_001278512.2(AP3B2):c.1665+17G>A
NM_001278512.2(AP3B2):c.1666-12del
NM_001278512.2(AP3B2):c.1666-13C>T
NM_001278512.2(AP3B2):c.1666-16C>G
NM_001278512.2(AP3B2):c.1666-18C>T
NM_001278512.2(AP3B2):c.1666-5T>A
NM_001278512.2(AP3B2):c.1692G>A (p.Leu564=) rs2151431180
NM_001278512.2(AP3B2):c.1707T>C (p.Tyr569=)
NM_001278512.2(AP3B2):c.1719T>C (p.Tyr573=)
NM_001278512.2(AP3B2):c.1737G>A (p.Ala579=)
NM_001278512.2(AP3B2):c.1767C>A (p.Ser589=) rs776921804
NM_001278512.2(AP3B2):c.1767C>T (p.Ser589=) rs776921804
NM_001278512.2(AP3B2):c.1776T>C (p.Gly592=)
NM_001278512.2(AP3B2):c.1800G>A (p.Lys600=) rs772597740
NM_001278512.2(AP3B2):c.1806C>G (p.Leu602=)
NM_001278512.2(AP3B2):c.1827T>A (p.Ala609=)
NM_001278512.2(AP3B2):c.1830A>T (p.Pro610=)
NM_001278512.2(AP3B2):c.1852+18G>A
NM_001278512.2(AP3B2):c.1852+20G>A
NM_001278512.2(AP3B2):c.1852+8C>T
NM_001278512.2(AP3B2):c.1853-14A>C rs2151430125
NM_001278512.2(AP3B2):c.1853-16C>G
NM_001278512.2(AP3B2):c.1853-17T>C
NM_001278512.2(AP3B2):c.1853-6C>T
NM_001278512.2(AP3B2):c.1853-9T>C
NM_001278512.2(AP3B2):c.1860C>T (p.Asp620=) rs779641851
NM_001278512.2(AP3B2):c.189+12A>G
NM_001278512.2(AP3B2):c.189+12AGG[2]
NM_001278512.2(AP3B2):c.189+9G>A
NM_001278512.2(AP3B2):c.190-18C>T
NM_001278512.2(AP3B2):c.190-20A>C
NM_001278512.2(AP3B2):c.190-20A>G
NM_001278512.2(AP3B2):c.1920G>A (p.Glu640=)
NM_001278512.2(AP3B2):c.1938G>A (p.Glu646=)
NM_001278512.2(AP3B2):c.1951C>G (p.Pro651Ala)
NM_001278512.2(AP3B2):c.1965C>T (p.Asn655=)
NM_001278512.2(AP3B2):c.1971+10G>C
NM_001278512.2(AP3B2):c.1971+13G>C
NM_001278512.2(AP3B2):c.1971+16G>A
NM_001278512.2(AP3B2):c.1971+17G>A
NM_001278512.2(AP3B2):c.1971+18T>C rs1379970864
NM_001278512.2(AP3B2):c.1971+18T>G
NM_001278512.2(AP3B2):c.1971+20G>C rs2048040197
NM_001278512.2(AP3B2):c.1971+8G>A
NM_001278512.2(AP3B2):c.2029-16C>T rs2151429415
NM_001278512.2(AP3B2):c.2034T>C (p.Pro678=)
NM_001278512.2(AP3B2):c.2043C>G (p.Thr681=)
NM_001278512.2(AP3B2):c.204A>G (p.Gly68=) rs1283934310
NM_001278512.2(AP3B2):c.2056C>A (p.Arg686=)
NM_001278512.2(AP3B2):c.2067A>G (p.Arg689=)
NM_001278512.2(AP3B2):c.2070G>A (p.Lys690=) rs2151429392
NM_001278512.2(AP3B2):c.2085C>T (p.Pro695=)
NM_001278512.2(AP3B2):c.2094G>T (p.Ser698=)
NM_001278512.2(AP3B2):c.2103G>A (p.Glu701=)
NM_001278512.2(AP3B2):c.2115C>T (p.Gly705=)
NM_001278512.2(AP3B2):c.2133C>T (p.Asp711=)
NM_001278512.2(AP3B2):c.2137+14A>G
NM_001278512.2(AP3B2):c.2137+16A>G
NM_001278512.2(AP3B2):c.2138-18C>G
NM_001278512.2(AP3B2):c.2139C>T (p.Asp713=)
NM_001278512.2(AP3B2):c.2142T>C (p.Pro714=)
NM_001278512.2(AP3B2):c.2145G>A (p.Glu715=)
NM_001278512.2(AP3B2):c.2181G>A (p.Glu727=)
NM_001278512.2(AP3B2):c.2184C>T (p.Ser728=) rs750101148
NM_001278512.2(AP3B2):c.2244A>G (p.Lys748=)
NM_001278512.2(AP3B2):c.2247G>C (p.Gly749=)
NM_001278512.2(AP3B2):c.2261+10G>A
NM_001278512.2(AP3B2):c.2261+13C>A
NM_001278512.2(AP3B2):c.2261+17C>T
NM_001278512.2(AP3B2):c.2261+18C>A
NM_001278512.2(AP3B2):c.2261+9G>A
NM_001278512.2(AP3B2):c.2262-18C>T
NM_001278512.2(AP3B2):c.2262-6C>T
NM_001278512.2(AP3B2):c.2262-8T>C
NM_001278512.2(AP3B2):c.2265A>G (p.Glu755=)
NM_001278512.2(AP3B2):c.2280T>C (p.Asp760=)
NM_001278512.2(AP3B2):c.228C>G (p.Pro76=) rs578240684
NM_001278512.2(AP3B2):c.228C>T (p.Pro76=)
NM_001278512.2(AP3B2):c.2322A>C (p.Gly774=)
NM_001278512.2(AP3B2):c.2322A>G (p.Gly774=)
NM_001278512.2(AP3B2):c.2379G>A (p.Glu793=)
NM_001278512.2(AP3B2):c.2403G>A (p.Glu801=)
NM_001278512.2(AP3B2):c.2430G>A (p.Arg810=)
NM_001278512.2(AP3B2):c.2460T>G (p.Pro820=) rs748851002
NM_001278512.2(AP3B2):c.2475C>T (p.Ile825=)
NM_001278512.2(AP3B2):c.2493G>A (p.Glu831=)
NM_001278512.2(AP3B2):c.2497+17A>G rs910186490
NM_001278512.2(AP3B2):c.2563C>T (p.Leu855=)
NM_001278512.2(AP3B2):c.2565G>A (p.Leu855=) rs2151427998
NM_001278512.2(AP3B2):c.2568G>A (p.Glu856=)
NM_001278512.2(AP3B2):c.2571C>T (p.Gly857=) rs2151427990
NM_001278512.2(AP3B2):c.2589C>T (p.Ser863=) rs2151427979
NM_001278512.2(AP3B2):c.2592C>A (p.Thr864=)
NM_001278512.2(AP3B2):c.2604+20G>C
NM_001278512.2(AP3B2):c.2605-15A>G
NM_001278512.2(AP3B2):c.2605-4C>G
NM_001278512.2(AP3B2):c.2605-7A>C
NM_001278512.2(AP3B2):c.2605-7A>G
NM_001278512.2(AP3B2):c.2605-9C>T
NM_001278512.2(AP3B2):c.2608C>T (p.Leu870=)
NM_001278512.2(AP3B2):c.264+7A>G rs2151449201
NM_001278512.2(AP3B2):c.265-11C>T
NM_001278512.2(AP3B2):c.265-14G>A rs755893061
NM_001278512.2(AP3B2):c.265-15C>T
NM_001278512.2(AP3B2):c.265-4C>T
NM_001278512.2(AP3B2):c.2694C>T (p.Arg898=) rs753123252
NM_001278512.2(AP3B2):c.2706C>A (p.Ser902=)
NM_001278512.2(AP3B2):c.2706C>T (p.Ser902=)
NM_001278512.2(AP3B2):c.2709G>A (p.Gly903=) rs772884144
NM_001278512.2(AP3B2):c.2724G>T (p.Val908=)
NM_001278512.2(AP3B2):c.2727C>T (p.Ser909=)
NM_001278512.2(AP3B2):c.2751C>T (p.Ser917=)
NM_001278512.2(AP3B2):c.2790C>T (p.Pro930=)
NM_001278512.2(AP3B2):c.279C>G (p.Val93=)
NM_001278512.2(AP3B2):c.2823T>C (p.Phe941=) rs1374848086
NM_001278512.2(AP3B2):c.2833+18T>C
NM_001278512.2(AP3B2):c.2833+9G>A
NM_001278512.2(AP3B2):c.2834-15C>A rs907703904
NM_001278512.2(AP3B2):c.2889C>T (p.Asp963=)
NM_001278512.2(AP3B2):c.288C>T (p.Tyr96=)
NM_001278512.2(AP3B2):c.2904C>T (p.Ala968=)
NM_001278512.2(AP3B2):c.2918+18G>C
NM_001278512.2(AP3B2):c.2918+8C>T
NM_001278512.2(AP3B2):c.2918+9C>T rs762847993
NM_001278512.2(AP3B2):c.2919-15T>A
NM_001278512.2(AP3B2):c.2919-53_2919-20del rs2047958995
NM_001278512.2(AP3B2):c.2919-6T>A
NM_001278512.2(AP3B2):c.2919-7C>G
NM_001278512.2(AP3B2):c.2919-7C>T
NM_001278512.2(AP3B2):c.2928C>A (p.Thr976=)
NM_001278512.2(AP3B2):c.2979T>C (p.Pro993=)
NM_001278512.2(AP3B2):c.300C>T (p.Tyr100=)
NM_001278512.2(AP3B2):c.3016+15G>A rs2151426856
NM_001278512.2(AP3B2):c.3016+15G>C
NM_001278512.2(AP3B2):c.3016+17A>C rs2047954982
NM_001278512.2(AP3B2):c.3016+20G>T
NM_001278512.2(AP3B2):c.3017-15_3017-13del
NM_001278512.2(AP3B2):c.3017-9_3017-8dup rs758173164
NM_001278512.2(AP3B2):c.3024G>A (p.Leu1008=)
NM_001278512.2(AP3B2):c.3030C>T (p.Gly1010=)
NM_001278512.2(AP3B2):c.303T>C (p.Ala101=) rs1198135586
NM_001278512.2(AP3B2):c.3048G>A (p.Glu1016=)
NM_001278512.2(AP3B2):c.3060G>A (p.Leu1020=)
NM_001278512.2(AP3B2):c.3114C>T (p.Ala1038=) rs2151425307
NM_001278512.2(AP3B2):c.3126T>A (p.Arg1042=)
NM_001278512.2(AP3B2):c.3132T>C (p.Pro1044=) rs2151425280
NM_001278512.2(AP3B2):c.3155+14A>C rs1357385251
NM_001278512.2(AP3B2):c.3155+14A>G
NM_001278512.2(AP3B2):c.3155+8G>C
NM_001278512.2(AP3B2):c.3156-11T>A rs1183541704
NM_001278512.2(AP3B2):c.3156-12T>C
NM_001278512.2(AP3B2):c.3156-15C>T
NM_001278512.2(AP3B2):c.3189C>T (p.Leu1063=)
NM_001278512.2(AP3B2):c.3201C>T (p.Thr1067=)
NM_001278512.2(AP3B2):c.3219T>C (p.Ala1073=) rs2047901313
NM_001278512.2(AP3B2):c.3231G>A (p.Gln1077=)
NM_001278512.2(AP3B2):c.3240C>A (p.Val1080=)
NM_001278512.2(AP3B2):c.324C>T (p.Ala108=)
NM_001278512.2(AP3B2):c.3267C>G (p.Thr1089=)
NM_001278512.2(AP3B2):c.3267C>T (p.Thr1089=)
NM_001278512.2(AP3B2):c.3273G>T (p.Leu1091=) rs533225118
NM_001278512.2(AP3B2):c.333C>T (p.Ser111=)
NM_001278512.2(AP3B2):c.354C>G (p.Gly118=) rs573639811
NM_001278512.2(AP3B2):c.360+9T>A
NM_001278512.2(AP3B2):c.361-4T>C
NM_001278512.2(AP3B2):c.369C>T (p.Asn123=)
NM_001278512.2(AP3B2):c.387T>C (p.Ser129=)
NM_001278512.2(AP3B2):c.390C>T (p.Ala130=) rs2151441691
NM_001278512.2(AP3B2):c.444A>G (p.Leu148=)
NM_001278512.2(AP3B2):c.462C>A (p.Ala154=) rs1462751798
NM_001278512.2(AP3B2):c.477C>T (p.Pro159=) rs2048338575
NM_001278512.2(AP3B2):c.501C>T (p.His167=)
NM_001278512.2(AP3B2):c.521+20C>G
NM_001278512.2(AP3B2):c.521+7C>T
NM_001278512.2(AP3B2):c.522-16C>T
NM_001278512.2(AP3B2):c.522-18C>T
NM_001278512.2(AP3B2):c.522-7C>T rs2151441425
NM_001278512.2(AP3B2):c.571C>T (p.Leu191=)
NM_001278512.2(AP3B2):c.588+17G>A
NM_001278512.2(AP3B2):c.589-9T>C rs1295039269
NM_001278512.2(AP3B2):c.606G>A (p.Val202=)
NM_001278512.2(AP3B2):c.618T>C (p.Phe206=)
NM_001278512.2(AP3B2):c.624G>A (p.Glu208=)
NM_001278512.2(AP3B2):c.627C>G (p.Val209=)
NM_001278512.2(AP3B2):c.645C>T (p.Asp215=)
NM_001278512.2(AP3B2):c.657A>G (p.Lys219=)
NM_001278512.2(AP3B2):c.696G>A (p.Glu232=)
NM_001278512.2(AP3B2):c.714C>T (p.Val238=)
NM_001278512.2(AP3B2):c.720C>T (p.Ile240=)
NM_001278512.2(AP3B2):c.738C>T (p.Tyr246=)
NM_001278512.2(AP3B2):c.771+10_771+18del rs1005722330
NM_001278512.2(AP3B2):c.771+9G>C rs780087125
NM_001278512.2(AP3B2):c.772-20C>A rs756061361
NM_001278512.2(AP3B2):c.772-6G>A
NM_001278512.2(AP3B2):c.772-7C>T
NM_001278512.2(AP3B2):c.777C>T (p.Ser259=)
NM_001278512.2(AP3B2):c.786G>A (p.Glu262=)
NM_001278512.2(AP3B2):c.828G>A (p.Glu276=)
NM_001278512.2(AP3B2):c.840G>A (p.Ala280=)
NM_001278512.2(AP3B2):c.843G>A (p.Gly281=)
NM_001278512.2(AP3B2):c.861C>T (p.Ala287=)
NM_001278512.2(AP3B2):c.864G>A (p.Ala288=)
NM_001278512.2(AP3B2):c.867C>G (p.Ala289=)
NM_001278512.2(AP3B2):c.870C>A (p.Ala290=)
NM_001278512.2(AP3B2):c.873C>T (p.Pro291=)
NM_001278512.2(AP3B2):c.882G>A (p.Lys294=)
NM_001278512.2(AP3B2):c.885C>G (p.Pro295=)
NM_001278512.2(AP3B2):c.900C>T (p.Pro300=)
NM_001278512.2(AP3B2):c.913C>T (p.Leu305=)
NM_001278512.2(AP3B2):c.921C>A (p.Arg307=)
NM_001278512.2(AP3B2):c.933C>G (p.Pro311=)
NM_001278512.2(AP3B2):c.969G>A (p.Ala323=)
NM_001278512.2(AP3B2):c.972G>A (p.Val324=)
NM_001278512.2(AP3B2):c.981C>A (p.Leu327=)
NM_001278512.2(AP3B2):c.981C>G (p.Leu327=)
NM_001278512.2(AP3B2):c.990C>T (p.His330=)
NM_001278512.2(AP3B2):c.991C>T (p.Leu331=)
NM_001278512.2(AP3B2):c.996G>A (p.Ala332=)

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