ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 399
Download table as spreadsheet
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.855G>A (p.Thr285=) rs377638665 0.00096
NM_001278512.2(AP3B2):c.189G>A (p.Ala63=) rs145841558 0.00090
NM_001278512.2(AP3B2):c.2394C>T (p.Ser798=) rs189447069 0.00076
NM_001278512.2(AP3B2):c.2349C>T (p.Ser783=) rs143109436 0.00069
NM_001278512.2(AP3B2):c.3211C>T (p.Arg1071Trp) rs35816065 0.00063
NM_001278512.2(AP3B2):c.3016+8C>G rs374508854 0.00054
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 0.00044
NM_001278512.2(AP3B2):c.1728C>T (p.Arg576=) rs34585442 0.00043
NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln) rs529642370 0.00042
NM_001278512.2(AP3B2):c.2988G>A (p.Met996Ile) rs376398184 0.00041
NM_001278512.2(AP3B2):c.1183-19T>G rs377729111 0.00036
NM_001278512.2(AP3B2):c.2484T>C (p.Leu828=) rs113912121 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 0.00027
NM_001278512.2(AP3B2):c.2601G>A (p.Pro867=) rs372227718 0.00022
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.1488+13C>T rs778763806 0.00008
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.3015G>A (p.Gln1005=) rs766114944 0.00006
NM_001278512.2(AP3B2):c.3017-16C>T rs190462067 0.00006
NM_001278512.2(AP3B2):c.1183-11C>A rs371253222 0.00005
NM_001278512.2(AP3B2):c.1666-13C>T rs773057635 0.00005
NM_001278512.2(AP3B2):c.1666-19C>G rs370046999 0.00005
NM_001278512.2(AP3B2):c.2121G>A (p.Thr707=) rs144115850 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.264+11C>T rs756274395 0.00005
NM_001278512.2(AP3B2):c.522-18C>T rs371805501 0.00005
NM_001278512.2(AP3B2):c.618T>C (p.Phe206=) rs1475940083 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.1605T>C (p.Asp535=) rs756711154 0.00004
NM_001278512.2(AP3B2):c.1951C>G (p.Pro651Ala) rs766645528 0.00004
NM_001278512.2(AP3B2):c.1971+18T>C rs1379970864 0.00004
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+14C>T rs375674863 0.00003
NM_001278512.2(AP3B2):c.1245+8C>A rs772298851 0.00003
NM_001278512.2(AP3B2):c.1248C>T (p.Thr416=) rs145110978 0.00003
NM_001278512.2(AP3B2):c.1365G>C (p.Leu455=) rs373055596 0.00003
NM_001278512.2(AP3B2):c.1379-19A>G rs563117961 0.00003
NM_001278512.2(AP3B2):c.1524C>T (p.Ile508=) rs201407449 0.00003
NM_001278512.2(AP3B2):c.1852+9T>C rs367649965 0.00003
NM_001278512.2(AP3B2):c.1853-16C>G rs772511306 0.00003
NM_001278512.2(AP3B2):c.2262-7C>T rs763684214 0.00003
NM_001278512.2(AP3B2):c.2605-16T>C rs1198464773 0.00003
NM_001278512.2(AP3B2):c.2697A>G (p.Gln899=) rs765658666 0.00003
NM_001278512.2(AP3B2):c.2706C>T (p.Ser902=) rs372220720 0.00003
NM_001278512.2(AP3B2):c.2778T>C (p.His926=) rs527906371 0.00003
NM_001278512.2(AP3B2):c.2833+18T>C rs375046440 0.00003
NM_001278512.2(AP3B2):c.300C>T (p.Tyr100=) rs781365751 0.00003
NM_001278512.2(AP3B2):c.3246C>T (p.Ser1082=) rs540715932 0.00003
NM_001278512.2(AP3B2):c.3267C>G (p.Thr1089=) rs773195273 0.00003
NM_001278512.2(AP3B2):c.589-20C>A rs752080767 0.00003
NM_001278512.2(AP3B2):c.882G>A (p.Lys294=) rs779008716 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.1194G>A (p.Leu398=) rs751524621 0.00002
NM_001278512.2(AP3B2):c.1246-7C>T rs752677808 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.1707T>C (p.Tyr569=) rs747517458 0.00002
NM_001278512.2(AP3B2):c.1852+7G>A rs1191927129 0.00002
NM_001278512.2(AP3B2):c.1852+8C>T rs754652888 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.2475C>T (p.Ile825=) rs756085102 0.00002
NM_001278512.2(AP3B2):c.2608C>T (p.Leu870=) rs764527361 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.2691C>T (p.Ser897=) rs373913491 0.00002
NM_001278512.2(AP3B2):c.2727C>T (p.Ser909=) rs774114116 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.3219T>C (p.Ala1073=) rs2047901313 0.00002
NM_001278512.2(AP3B2):c.772-18G>A rs745791019 0.00002
NM_001278512.2(AP3B2):c.843G>A (p.Gly281=) rs768284815 0.00002
NM_001278512.2(AP3B2):c.870C>A (p.Ala290=) rs1054432528 0.00002
NM_001278512.2(AP3B2):c.972G>A (p.Val324=) rs1335508181 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.1038C>T (p.Arg346=) rs1373471918 0.00001
NM_001278512.2(AP3B2):c.1053C>T (p.His351=) rs1177973989 0.00001
NM_001278512.2(AP3B2):c.1056-10C>T rs1314824288 0.00001
NM_001278512.2(AP3B2):c.1104G>A (p.Lys368=) rs753401017 0.00001
NM_001278512.2(AP3B2):c.1110+16C>T rs920005637 0.00001
NM_001278512.2(AP3B2):c.1110+17G>A rs986085559 0.00001
NM_001278512.2(AP3B2):c.1128C>T (p.Tyr376=) rs371778629 0.00001
NM_001278512.2(AP3B2):c.114-8C>T rs768130337 0.00001
NM_001278512.2(AP3B2):c.1155C>T (p.Thr385=) rs766997531 0.00001
NM_001278512.2(AP3B2):c.1182+9G>C rs1195831974 0.00001
NM_001278512.2(AP3B2):c.1278G>A (p.Val426=) rs774348949 0.00001
NM_001278512.2(AP3B2):c.1437A>C (p.Ala479=) rs1259854869 0.00001
NM_001278512.2(AP3B2):c.1482C>T (p.Asn494=) rs900380865 0.00001
NM_001278512.2(AP3B2):c.1488+15A>G rs768245826 0.00001
NM_001278512.2(AP3B2):c.1489-15C>T rs1487922488 0.00001
NM_001278512.2(AP3B2):c.1489-6C>T rs1485151885 0.00001
NM_001278512.2(AP3B2):c.1542T>C (p.His514=) rs2548707464 0.00001
NM_001278512.2(AP3B2):c.1632G>C (p.Leu544=) rs375983123 0.00001
NM_001278512.2(AP3B2):c.1683G>A (p.Gln561=) rs1211978142 0.00001
NM_001278512.2(AP3B2):c.1719T>C (p.Tyr573=) rs553962648 0.00001
NM_001278512.2(AP3B2):c.1737G>A (p.Ala579=) rs1053635204 0.00001
NM_001278512.2(AP3B2):c.1852+12A>G rs779588672 0.00001
NM_001278512.2(AP3B2):c.1853-17T>C rs533175493 0.00001
NM_001278512.2(AP3B2):c.1853-9T>C rs369272064 0.00001
NM_001278512.2(AP3B2):c.189+7G>A rs759618803 0.00001
NM_001278512.2(AP3B2):c.189+9G>A rs754086524 0.00001
NM_001278512.2(AP3B2):c.190-20A>G rs2151449307 0.00001
NM_001278512.2(AP3B2):c.1965C>T (p.Asn655=) rs767599789 0.00001
NM_001278512.2(AP3B2):c.1971+16G>A rs775135883 0.00001
NM_001278512.2(AP3B2):c.1971+7G>A rs768933338 0.00001
NM_001278512.2(AP3B2):c.1971+8G>A rs912644518 0.00001
NM_001278512.2(AP3B2):c.2034T>C (p.Pro678=) rs760234241 0.00001
NM_001278512.2(AP3B2):c.2056C>A (p.Arg686=) rs1033207460 0.00001
NM_001278512.2(AP3B2):c.2085C>T (p.Pro695=) rs749053059 0.00001
NM_001278512.2(AP3B2):c.2094G>A (p.Ser698=) rs751702098 0.00001
NM_001278512.2(AP3B2):c.2139C>T (p.Asp713=) rs1345840572 0.00001
NM_001278512.2(AP3B2):c.2160G>A (p.Ser720=) rs748172513 0.00001
NM_001278512.2(AP3B2):c.2244A>G (p.Lys748=) rs769662562 0.00001
NM_001278512.2(AP3B2):c.2261+10G>A rs775997418 0.00001
NM_001278512.2(AP3B2):c.2265A>G (p.Glu755=) rs1204061598 0.00001
NM_001278512.2(AP3B2):c.2280T>C (p.Asp760=) rs1316341475 0.00001
NM_001278512.2(AP3B2):c.2322A>G (p.Gly774=) rs2048003891 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.2497+17A>G rs910186490 0.00001
NM_001278512.2(AP3B2):c.2563C>T (p.Leu855=) rs750578859 0.00001
NM_001278512.2(AP3B2):c.2592C>A (p.Thr864=) rs1372014904 0.00001
NM_001278512.2(AP3B2):c.2604+14A>C rs770329227 0.00001
NM_001278512.2(AP3B2):c.2604+20G>C rs746967720 0.00001
NM_001278512.2(AP3B2):c.2605-17C>T rs367919406 0.00001
NM_001278512.2(AP3B2):c.265-14G>A rs755893061 0.00001
NM_001278512.2(AP3B2):c.265-15C>T rs760184117 0.00001
NM_001278512.2(AP3B2):c.265-4C>T rs1278625405 0.00001
NM_001278512.2(AP3B2):c.265-9C>T rs773056650 0.00001
NM_001278512.2(AP3B2):c.2751C>T (p.Ser917=) rs2047975304 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.288C>T (p.Tyr96=) rs778742367 0.00001
NM_001278512.2(AP3B2):c.2904C>T (p.Ala968=) rs1373410579 0.00001
NM_001278512.2(AP3B2):c.2919-15T>A rs201324462 0.00001
NM_001278512.2(AP3B2):c.2919-6T>A rs1411611944 0.00001
NM_001278512.2(AP3B2):c.2928C>A (p.Thr976=) rs931951015 0.00001
NM_001278512.2(AP3B2):c.2968C>T (p.Leu990=) rs558558434 0.00001
NM_001278512.2(AP3B2):c.3016+17A>C rs2047954982 0.00001
NM_001278512.2(AP3B2):c.3016+20G>T rs978276769 0.00001
NM_001278512.2(AP3B2):c.3030C>T (p.Gly1010=) rs371252070 0.00001
NM_001278512.2(AP3B2):c.303T>C (p.Ala101=) rs1198135586 0.00001
NM_001278512.2(AP3B2):c.3090G>C (p.Val1030=) rs370335674 0.00001
NM_001278512.2(AP3B2):c.3126T>A (p.Arg1042=) rs1182827417 0.00001
NM_001278512.2(AP3B2):c.3155+12C>A rs1482545694 0.00001
NM_001278512.2(AP3B2):c.3189C>T (p.Leu1063=) rs777678002 0.00001
NM_001278512.2(AP3B2):c.3193C>T (p.Leu1065=) rs376892730 0.00001
NM_001278512.2(AP3B2):c.3273G>A (p.Leu1091=) rs533225118 0.00001
NM_001278512.2(AP3B2):c.333C>T (p.Ser111=) rs1436458712 0.00001
NM_001278512.2(AP3B2):c.361-4T>C rs1468477366 0.00001
NM_001278512.2(AP3B2):c.384C>T (p.Ala128=) rs546533086 0.00001
NM_001278512.2(AP3B2):c.501C>T (p.His167=) rs976811873 0.00001
NM_001278512.2(AP3B2):c.521+20C>G rs1177747957 0.00001
NM_001278512.2(AP3B2):c.571C>T (p.Leu191=) rs1484943195 0.00001
NM_001278512.2(AP3B2):c.588+17G>A rs1433187272 0.00001
NM_001278512.2(AP3B2):c.624G>A (p.Glu208=) rs753807447 0.00001
NM_001278512.2(AP3B2):c.627C>G (p.Val209=) rs766315390 0.00001
NM_001278512.2(AP3B2):c.666G>A (p.Arg222=) rs374426997 0.00001
NM_001278512.2(AP3B2):c.696G>A (p.Glu232=) rs1212746628 0.00001
NM_001278512.2(AP3B2):c.711G>T (p.Val237=) rs760029851 0.00001
NM_001278512.2(AP3B2):c.714C>T (p.Val238=) rs1258139202 0.00001
NM_001278512.2(AP3B2):c.720C>T (p.Ile240=) rs771334633 0.00001
NM_001278512.2(AP3B2):c.756G>C (p.Leu252=) rs771566020 0.00001
NM_001278512.2(AP3B2):c.840G>A (p.Ala280=) rs762186457 0.00001
NM_001278512.2(AP3B2):c.867C>G (p.Ala289=) rs781167939 0.00001
NM_001278512.2(AP3B2):c.960G>C (p.Val320=) rs770836675 0.00001
NM_001278512.2(AP3B2):c.991C>T (p.Leu331=) rs1241525410 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=) rs538786696
NM_001278512.2(AP3B2):c.1032G>C (p.Leu344=) rs538786696
NM_001278512.2(AP3B2):c.1044G>A (p.Leu348=) rs2548711230
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=) rs753044801
NM_001278512.2(AP3B2):c.1080G>A (p.Gln360=) rs2048311533
NM_001278512.2(AP3B2):c.1110+15G>A
NM_001278512.2(AP3B2):c.1110+19G>A
NM_001278512.2(AP3B2):c.1110+20C>A rs2048310422
NM_001278512.2(AP3B2):c.1111-11T>C rs2548710355
NM_001278512.2(AP3B2):c.1111-12C>T rs2548710358
NM_001278512.2(AP3B2):c.1111-4C>T rs2151440196
NM_001278512.2(AP3B2):c.1111-8T>C rs778431297
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 rs2548710248
NM_001278512.2(AP3B2):c.1182+20G>A rs2048301065
NM_001278512.2(AP3B2):c.1197C>G (p.Thr399=) rs2548709168
NM_001278512.2(AP3B2):c.1218C>T (p.Asn406=) rs2548709144
NM_001278512.2(AP3B2):c.1245+16C>G
NM_001278512.2(AP3B2):c.1246-12C>G rs1321021609
NM_001278512.2(AP3B2):c.1246-15T>C rs2548708728
NM_001278512.2(AP3B2):c.1246-9A>C rs1406965148
NM_001278512.2(AP3B2):c.1317C>T (p.Asn439=) rs2548708629
NM_001278512.2(AP3B2):c.1335C>T (p.Asp445=) rs2548708607
NM_001278512.2(AP3B2):c.1350C>T (p.Gly450=) rs2548708594
NM_001278512.2(AP3B2):c.1363C>T (p.Leu455=)
NM_001278512.2(AP3B2):c.1371C>T (p.Asn457=) rs1277478651
NM_001278512.2(AP3B2):c.1378+15_1378+16delinsAC rs2151438789
NM_001278512.2(AP3B2):c.1379-16C>G rs747628055
NM_001278512.2(AP3B2):c.1379-4G>A rs1596178922
NM_001278512.2(AP3B2):c.1379-7T>C rs2548708141
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.1443T>C (p.His481=) rs543132175
NM_001278512.2(AP3B2):c.1449G>A (p.Glu483=) rs2548708067
NM_001278512.2(AP3B2):c.1476A>G (p.Thr492=) rs764338728
NM_001278512.2(AP3B2):c.1488+18T>C rs749285764
NM_001278512.2(AP3B2):c.1489-12C>T
NM_001278512.2(AP3B2):c.1489-5C>T rs2048246558
NM_001278512.2(AP3B2):c.1489-7del rs769096492
NM_001278512.2(AP3B2):c.1494C>T (p.Pro498=) rs2548707500
NM_001278512.2(AP3B2):c.1545C>G (p.Val515=) rs2548707459
NM_001278512.2(AP3B2):c.1593A>G (p.Thr531=)
NM_001278512.2(AP3B2):c.1599G>A (p.Glu533=) rs2548707417
NM_001278512.2(AP3B2):c.1602G>A (p.Glu534=) rs1055026303
NM_001278512.2(AP3B2):c.1623C>T (p.Val541=)
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 rs1407869719
NM_001278512.2(AP3B2):c.1665+11A>C rs370203632
NM_001278512.2(AP3B2):c.1665+16_1665+18del rs2548707310
NM_001278512.2(AP3B2):c.1665+17G>A rs759558992
NM_001278512.2(AP3B2):c.1666-12del rs2548701018
NM_001278512.2(AP3B2):c.1666-16C>G rs1003568294
NM_001278512.2(AP3B2):c.1666-18C>T
NM_001278512.2(AP3B2):c.1666-5T>A rs775523551
NM_001278512.2(AP3B2):c.1692G>A (p.Leu564=) rs2151431180
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=) rs748396056
NM_001278512.2(AP3B2):c.1827T>A (p.Ala609=) rs2548700797
NM_001278512.2(AP3B2):c.1830A>T (p.Pro610=)
NM_001278512.2(AP3B2):c.1852+18G>A rs755568637
NM_001278512.2(AP3B2):c.1852+20G>A rs2548700741
NM_001278512.2(AP3B2):c.1853-14A>C rs2151430125
NM_001278512.2(AP3B2):c.1853-6C>T
NM_001278512.2(AP3B2):c.1860C>T (p.Asp620=) rs779641851
NM_001278512.2(AP3B2):c.189+12A>G rs1364983469
NM_001278512.2(AP3B2):c.189+12AGG[2] rs1467806640
NM_001278512.2(AP3B2):c.190-18C>T rs2548719005
NM_001278512.2(AP3B2):c.190-20A>C rs2151449307
NM_001278512.2(AP3B2):c.1920G>A (p.Glu640=) rs2151430095
NM_001278512.2(AP3B2):c.1938G>A (p.Glu646=) rs754148578
NM_001278512.2(AP3B2):c.1971+10G>C rs1251866769
NM_001278512.2(AP3B2):c.1971+13G>C
NM_001278512.2(AP3B2):c.1971+17G>A
NM_001278512.2(AP3B2):c.1971+18T>G rs1379970864
NM_001278512.2(AP3B2):c.1971+20G>C rs2048040197
NM_001278512.2(AP3B2):c.2029-16C>T rs2151429415
NM_001278512.2(AP3B2):c.2043C>G (p.Thr681=)
NM_001278512.2(AP3B2):c.204A>G (p.Gly68=) rs1283934310
NM_001278512.2(AP3B2):c.2067A>G (p.Arg689=) rs2548697999
NM_001278512.2(AP3B2):c.2070G>A (p.Lys690=) rs2151429392
NM_001278512.2(AP3B2):c.2094G>T (p.Ser698=) rs751702098
NM_001278512.2(AP3B2):c.2103G>A (p.Glu701=) rs777880981
NM_001278512.2(AP3B2):c.2115C>T (p.Gly705=) rs1158097259
NM_001278512.2(AP3B2):c.2133C>T (p.Asp711=)
NM_001278512.2(AP3B2):c.2137+14A>G rs2548697888
NM_001278512.2(AP3B2):c.2137+16A>G rs2548697886
NM_001278512.2(AP3B2):c.2138-18C>G
NM_001278512.2(AP3B2):c.2142T>C (p.Pro714=) rs2048016813
NM_001278512.2(AP3B2):c.2145G>A (p.Glu715=) rs1269393712
NM_001278512.2(AP3B2):c.2181G>A (p.Glu727=) rs2548697460
NM_001278512.2(AP3B2):c.2184C>T (p.Ser728=) rs750101148
NM_001278512.2(AP3B2):c.2247G>C (p.Gly749=)
NM_001278512.2(AP3B2):c.2261+13C>A rs2048013629
NM_001278512.2(AP3B2):c.2261+17C>T rs2048013490
NM_001278512.2(AP3B2):c.2261+18C>A rs2548697326
NM_001278512.2(AP3B2):c.2261+9G>A
NM_001278512.2(AP3B2):c.2262-18C>T
NM_001278512.2(AP3B2):c.2262-6C>T rs2548696909
NM_001278512.2(AP3B2):c.2262-8T>C rs2548696916
NM_001278512.2(AP3B2):c.228C>G (p.Pro76=) rs578240684
NM_001278512.2(AP3B2):c.228C>T (p.Pro76=) rs578240684
NM_001278512.2(AP3B2):c.2322A>C (p.Gly774=)
NM_001278512.2(AP3B2):c.2379G>A (p.Glu793=) rs1284343563
NM_001278512.2(AP3B2):c.2403G>A (p.Glu801=) rs368097009
NM_001278512.2(AP3B2):c.2430G>A (p.Arg810=) rs1450305273
NM_001278512.2(AP3B2):c.2460T>G (p.Pro820=) rs748851002
NM_001278512.2(AP3B2):c.2493G>A (p.Glu831=) rs2548696299
NM_001278512.2(AP3B2):c.2565G>A (p.Leu855=) rs2151427998
NM_001278512.2(AP3B2):c.2568G>A (p.Glu856=) rs2548695696
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.2605-15A>G rs757285593
NM_001278512.2(AP3B2):c.2605-4C>G rs2548695302
NM_001278512.2(AP3B2):c.2605-7A>C rs752065303
NM_001278512.2(AP3B2):c.2605-7A>G rs752065303
NM_001278512.2(AP3B2):c.2605-9C>T rs2548695312
NM_001278512.2(AP3B2):c.264+7A>G rs2151449201
NM_001278512.2(AP3B2):c.265-11C>T rs2048475924
NM_001278512.2(AP3B2):c.2694C>T (p.Arg898=) rs753123252
NM_001278512.2(AP3B2):c.2706C>A (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.2790C>T (p.Pro930=) rs779224043
NM_001278512.2(AP3B2):c.279C>G (p.Val93=) rs747912746
NM_001278512.2(AP3B2):c.2823T>C (p.Phe941=) rs1374848086
NM_001278512.2(AP3B2):c.2833+9G>A rs1254431948
NM_001278512.2(AP3B2):c.2834-15C>A rs907703904
NM_001278512.2(AP3B2):c.2889C>T (p.Asp963=) rs1423515564
NM_001278512.2(AP3B2):c.2918+18G>C
NM_001278512.2(AP3B2):c.2918+8C>T rs2047961992
NM_001278512.2(AP3B2):c.2918+9C>T rs762847993
NM_001278512.2(AP3B2):c.2919-53_2919-20del rs2047958995
NM_001278512.2(AP3B2):c.2919-7C>G
NM_001278512.2(AP3B2):c.2919-7C>T
NM_001278512.2(AP3B2):c.2979T>C (p.Pro993=) rs2548693918
NM_001278512.2(AP3B2):c.3016+15G>A rs2151426856
NM_001278512.2(AP3B2):c.3016+15G>C rs2151426856
NM_001278512.2(AP3B2):c.3017-15_3017-13del rs2548692277
NM_001278512.2(AP3B2):c.3017-9_3017-8dup rs758173164
NM_001278512.2(AP3B2):c.3024G>A (p.Leu1008=)
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.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 rs914468943
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 rs769129425
NM_001278512.2(AP3B2):c.3201C>T (p.Thr1067=)
NM_001278512.2(AP3B2):c.3231G>A (p.Gln1077=) rs2548691758
NM_001278512.2(AP3B2):c.3240C>A (p.Val1080=) rs764833765
NM_001278512.2(AP3B2):c.324C>T (p.Ala108=)
NM_001278512.2(AP3B2):c.3267C>T (p.Thr1089=) rs773195273
NM_001278512.2(AP3B2):c.3273G>T (p.Leu1091=) rs533225118
NM_001278512.2(AP3B2):c.354C>G (p.Gly118=) rs573639811
NM_001278512.2(AP3B2):c.360+9T>A rs2548718095
NM_001278512.2(AP3B2):c.369C>T (p.Asn123=) rs2048339379
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=) rs2151441661
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.521+7C>T
NM_001278512.2(AP3B2):c.522-16C>T rs2548712180
NM_001278512.2(AP3B2):c.522-7C>T rs2151441425
NM_001278512.2(AP3B2):c.589-9T>C rs1295039269
NM_001278512.2(AP3B2):c.606G>A (p.Val202=)
NM_001278512.2(AP3B2):c.645C>T (p.Asp215=) rs760520057
NM_001278512.2(AP3B2):c.657A>G (p.Lys219=)
NM_001278512.2(AP3B2):c.738C>T (p.Tyr246=) rs1439062220
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 rs2548711648
NM_001278512.2(AP3B2):c.772-7C>T rs757047154
NM_001278512.2(AP3B2):c.777C>T (p.Ser259=) rs1388681622
NM_001278512.2(AP3B2):c.786G>A (p.Glu262=)
NM_001278512.2(AP3B2):c.828G>A (p.Glu276=) rs2048323413
NM_001278512.2(AP3B2):c.861C>T (p.Ala287=) rs2048322859
NM_001278512.2(AP3B2):c.864G>A (p.Ala288=) rs1393816965
NM_001278512.2(AP3B2):c.873C>T (p.Pro291=) rs1476114061
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=) rs1337967166
NM_001278512.2(AP3B2):c.921C>A (p.Arg307=)
NM_001278512.2(AP3B2):c.933C>G (p.Pro311=) rs751897721
NM_001278512.2(AP3B2):c.969G>A (p.Ala323=)
NM_001278512.2(AP3B2):c.981C>A (p.Leu327=) rs756215154
NM_001278512.2(AP3B2):c.981C>G (p.Leu327=) rs756215154
NM_001278512.2(AP3B2):c.990C>T (p.His330=) rs2548711310
NM_001278512.2(AP3B2):c.996G>A (p.Ala332=) rs2548711304

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.