ClinVar Miner

List of variants in gene AP3B1 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 367
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_003664.5(AP3B1):c.38G>C (p.Gly13Ala) rs139760966 0.00039
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=) rs142938290 0.00024
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_003664.5(AP3B1):c.*482C>T rs538570213 0.00017
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu) rs201886263 0.00015
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 0.00014
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_003664.5(AP3B1):c.1741A>G (p.Ile581Val) rs751683762 0.00013
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749 0.00011
NM_003664.5(AP3B1):c.*101T>C rs766029582 0.00010
NM_003664.5(AP3B1):c.1748C>T (p.Pro583Leu) rs148023800 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_003664.5(AP3B1):c.2900A>G (p.Lys967Arg) rs766616397 0.00009
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_003664.5(AP3B1):c.604-3T>C rs754016521 0.00009
NM_003664.5(AP3B1):c.1031G>A (p.Arg344His) rs765852823 0.00008
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) rs138751237 0.00007
NM_003664.5(AP3B1):c.2779G>A (p.Gly927Ser) rs746205404 0.00007
NM_003664.5(AP3B1):c.*507G>A rs865863660 0.00006
NM_003664.5(AP3B1):c.131A>G (p.Asn44Ser) rs774098325 0.00006
NM_003664.5(AP3B1):c.1462G>A (p.Asp488Asn) rs370362655 0.00006
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_003664.5(AP3B1):c.2446G>A (p.Val816Ile) rs372847987 0.00006
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe) rs764100439 0.00006
NM_003664.5(AP3B1):c.823G>A (p.Glu275Lys) rs140209190 0.00006
NM_003664.5(AP3B1):c.835G>T (p.Asp279Tyr) rs751922416 0.00006
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_003664.5(AP3B1):c.532T>C (p.Tyr178His) rs777268122 0.00005
NM_003664.5(AP3B1):c.1325G>A (p.Cys442Tyr) rs1032054339 0.00004
NM_003664.5(AP3B1):c.1862C>G (p.Thr621Ser) rs796196281 0.00004
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val) rs779404585 0.00004
NM_003664.5(AP3B1):c.2132A>T (p.Asp711Val) rs145162631 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg) rs764312417 0.00004
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly) rs554863664 0.00004
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) rs148160411 0.00003
NM_003664.5(AP3B1):c.1168-3T>C rs751674819 0.00003
NM_003664.5(AP3B1):c.1322C>T (p.Thr441Met) rs556341477 0.00003
NM_003664.5(AP3B1):c.193C>T (p.Arg65Trp) rs758616866 0.00003
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val) rs150765181 0.00003
NM_003664.5(AP3B1):c.279+6G>A rs1269853831 0.00003
NM_003664.5(AP3B1):c.2987A>G (p.Glu996Gly) rs746992047 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_003664.5(AP3B1):c.679C>T (p.Arg227Cys) rs748972774 0.00003
NM_003664.5(AP3B1):c.785A>G (p.Glu262Gly) rs756321242 0.00003
NM_003664.5(AP3B1):c.877A>G (p.Met293Val) rs538390986 0.00003
NM_003664.5(AP3B1):c.1331A>G (p.Asn444Ser) rs758805835 0.00002
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_003664.5(AP3B1):c.1927G>A (p.Ala643Thr) rs775296594 0.00002
NM_003664.5(AP3B1):c.194G>A (p.Arg65Gln) rs150651515 0.00002
NM_003664.5(AP3B1):c.2048A>T (p.Glu683Val) rs768736531 0.00002
NM_003664.5(AP3B1):c.2287A>G (p.Lys763Glu) rs151082743 0.00002
NM_003664.5(AP3B1):c.2577T>C (p.Ser859=) rs755754414 0.00002
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu) rs1424373279 0.00002
NM_003664.5(AP3B1):c.942+6T>C rs759015208 0.00002
NM_003664.5(AP3B1):c.*141T>C rs753283084 0.00001
NM_003664.5(AP3B1):c.*447C>T rs886060768 0.00001
NM_003664.5(AP3B1):c.1021C>T (p.Arg341Cys) rs964935640 0.00001
NM_003664.5(AP3B1):c.1034G>A (p.Ser345Asn) rs750036781 0.00001
NM_003664.5(AP3B1):c.104G>T (p.Gly35Val) rs1749668081 0.00001
NM_003664.5(AP3B1):c.1159A>G (p.Thr387Ala) rs762030946 0.00001
NM_003664.5(AP3B1):c.1160C>T (p.Thr387Ile) rs1744114827 0.00001
NM_003664.5(AP3B1):c.1176T>G (p.Ile392Met) rs758680279 0.00001
NM_003664.5(AP3B1):c.1220G>A (p.Arg407Gln) rs779980435 0.00001
NM_003664.5(AP3B1):c.1234T>C (p.Tyr412His) rs781034104 0.00001
NM_003664.5(AP3B1):c.1241A>G (p.Lys414Arg) rs778910104 0.00001
NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val) rs201185966 0.00001
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.1343G>A (p.Cys448Tyr) rs201877252 0.00001
NM_003664.5(AP3B1):c.1363G>A (p.Glu455Lys) rs1204234337 0.00001
NM_003664.5(AP3B1):c.1364-11A>G rs759174401 0.00001
NM_003664.5(AP3B1):c.136G>A (p.Asp46Asn) rs768641911 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_003664.5(AP3B1):c.1424A>G (p.Gln475Arg) rs1743147205 0.00001
NM_003664.5(AP3B1):c.1445A>G (p.His482Arg) rs370497154 0.00001
NM_003664.5(AP3B1):c.1554G>C (p.Leu518Phe) rs1364578273 0.00001
NM_003664.5(AP3B1):c.1648C>G (p.Gln550Glu) rs1384754808 0.00001
NM_003664.5(AP3B1):c.1679A>G (p.Asn560Ser) rs776064198 0.00001
NM_003664.5(AP3B1):c.168T>A (p.Asp56Glu) rs1274489549 0.00001
NM_003664.5(AP3B1):c.1718G>A (p.Arg573His) rs1229904606 0.00001
NM_003664.5(AP3B1):c.176A>G (p.Lys59Arg) rs1300050218 0.00001
NM_003664.5(AP3B1):c.1873A>T (p.Thr625Ser) rs199908785 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 0.00001
NM_003664.5(AP3B1):c.1903G>A (p.Glu635Lys) rs1381722917 0.00001
NM_003664.5(AP3B1):c.1934A>C (p.Asp645Ala) rs1317710866 0.00001
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln) rs748191084 0.00001
NM_003664.5(AP3B1):c.1972A>G (p.Lys658Glu) rs1357683810 0.00001
NM_003664.5(AP3B1):c.2007G>T (p.Glu669Asp) rs781781671 0.00001
NM_003664.5(AP3B1):c.2018A>G (p.Lys673Arg) rs763619135 0.00001
NM_003664.5(AP3B1):c.2022G>C (p.Lys674Asn) rs752440818 0.00001
NM_003664.5(AP3B1):c.2077+6T>C rs1432974932 0.00001
NM_003664.5(AP3B1):c.2120G>A (p.Gly707Glu) rs1244138366 0.00001
NM_003664.5(AP3B1):c.2189G>A (p.Arg730Gln) rs933653334 0.00001
NM_003664.5(AP3B1):c.2210A>G (p.Lys737Arg) rs780784576 0.00001
NM_003664.5(AP3B1):c.2311G>A (p.Glu771Lys) rs758351076 0.00001
NM_003664.5(AP3B1):c.2329G>A (p.Asp777Asn) rs751538828 0.00001
NM_003664.5(AP3B1):c.2384G>A (p.Arg795Lys) rs1017591456 0.00001
NM_003664.5(AP3B1):c.2482T>C (p.Ser828Pro) rs768483549 0.00001
NM_003664.5(AP3B1):c.2492T>A (p.Val831Asp) rs149948974 0.00001
NM_003664.5(AP3B1):c.2527A>G (p.Met843Val) rs201609994 0.00001
NM_003664.5(AP3B1):c.2587C>G (p.Pro863Ala) rs1056281695 0.00001
NM_003664.5(AP3B1):c.2627G>A (p.Arg876Gln) rs772186737 0.00001
NM_003664.5(AP3B1):c.2651C>T (p.Ala884Val) rs1225801616 0.00001
NM_003664.5(AP3B1):c.2686G>C (p.Gly896Arg) rs1338111569 0.00001
NM_003664.5(AP3B1):c.2708A>C (p.Gln903Pro) rs1240100716 0.00001
NM_003664.5(AP3B1):c.2758G>T (p.Gly920Trp) rs759300647 0.00001
NM_003664.5(AP3B1):c.2776A>G (p.Ile926Val) rs558325834 0.00001
NM_003664.5(AP3B1):c.2799T>A (p.Phe933Leu) rs1747935041 0.00001
NM_003664.5(AP3B1):c.27T>G (p.Asn9Lys) rs1170215351 0.00001
NM_003664.5(AP3B1):c.2809+4A>G rs747843144 0.00001
NM_003664.5(AP3B1):c.2822C>A (p.Pro941His) rs1022482616 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_003664.5(AP3B1):c.2894+4A>G rs544214699 0.00001
NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile) rs369459422 0.00001
NM_003664.5(AP3B1):c.292G>A (p.Val98Ile) rs780459865 0.00001
NM_003664.5(AP3B1):c.2992+3G>A rs779017901 0.00001
NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg) rs780143358 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_003664.5(AP3B1):c.3136G>A (p.Ala1046Thr) rs776628092 0.00001
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile) rs535976982 0.00001
NM_003664.5(AP3B1):c.3190G>A (p.Glu1064Lys) rs767072786 0.00001
NM_003664.5(AP3B1):c.3194G>A (p.Gly1065Asp) rs761729448 0.00001
NM_003664.5(AP3B1):c.3214A>G (p.Ile1072Val) rs760735640 0.00001
NM_003664.5(AP3B1):c.3226A>G (p.Lys1076Glu) rs976542118 0.00001
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile) rs773537846 0.00001
NM_003664.5(AP3B1):c.382A>G (p.Asn128Asp) rs758062316 0.00001
NM_003664.5(AP3B1):c.537-7T>A rs773657171 0.00001
NM_003664.5(AP3B1):c.557A>C (p.Glu186Ala) rs778281326 0.00001
NM_003664.5(AP3B1):c.565A>G (p.Ile189Val) rs1393665689 0.00001
NM_003664.5(AP3B1):c.603+3A>G rs1357382699 0.00001
NM_003664.5(AP3B1):c.637G>C (p.Glu213Gln) rs1485047029 0.00001
NM_003664.5(AP3B1):c.739A>C (p.Met247Leu) rs1271543780 0.00001
NM_003664.5(AP3B1):c.813G>T (p.Lys271Asn) rs914618490 0.00001
NM_003664.5(AP3B1):c.821A>G (p.Tyr274Cys) rs989736183 0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_003664.5(AP3B1):c.883C>A (p.Pro295Thr) rs570476100 0.00001
NM_003664.5(AP3B1):c.911C>T (p.Thr304Ile) rs201075567 0.00001
NM_003664.5(AP3B1):c.929G>C (p.Ser310Thr) rs778226822 0.00001
NM_003664.5(AP3B1):c.941C>T (p.Ala314Val) rs753218867 0.00001
NM_003664.5(AP3B1):c.97G>T (p.Ala33Ser) rs773073407 0.00001
NC_000005.10:g.(?_78020672)_(78089519_?)del
NC_000005.9:g.(?_77471430)_(77477506_?)del
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NM_003664.4(AP3B1):c.-126C>G rs760008097
NM_003664.5(AP3B1):c.*191C>G rs6864605
NM_003664.5(AP3B1):c.*380G>A rs911081557
NM_003664.5(AP3B1):c.*380G>C rs911081557
NM_003664.5(AP3B1):c.-115G>A rs886060776
NM_003664.5(AP3B1):c.-83G>C rs774869942
NM_003664.5(AP3B1):c.1025T>C (p.Leu342Ser)
NM_003664.5(AP3B1):c.1030C>A (p.Arg344Ser) rs753341973
NM_003664.5(AP3B1):c.1035C>A (p.Ser345Arg) rs1744189442
NM_003664.5(AP3B1):c.1039A>G (p.Arg347Gly) rs774128940
NM_003664.5(AP3B1):c.1045G>T (p.Val349Leu)
NM_003664.5(AP3B1):c.1051T>G (p.Tyr351Asp)
NM_003664.5(AP3B1):c.1061T>A (p.Leu354Gln)
NM_003664.5(AP3B1):c.107T>C (p.Leu36Pro)
NM_003664.5(AP3B1):c.1091_1092delinsAT (p.Arg364Asn)
NM_003664.5(AP3B1):c.110T>A (p.Phe37Tyr)
NM_003664.5(AP3B1):c.1125C>G (p.Phe375Leu) rs2112401517
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile) rs757985695
NM_003664.5(AP3B1):c.1167+1_1167+2dup rs2112401395
NM_003664.5(AP3B1):c.1180A>G (p.Thr394Ala)
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val) rs1743584840
NM_003664.5(AP3B1):c.1193A>G (p.Asn398Ser) rs759936403
NM_003664.5(AP3B1):c.1230+6T>C
NM_003664.5(AP3B1):c.1230G>C (p.Gln410His) rs2112377230
NM_003664.5(AP3B1):c.1231-11A>G rs1743450274
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
NM_003664.5(AP3B1):c.1241A>C (p.Lys414Thr) rs778910104
NM_003664.5(AP3B1):c.1264G>A (p.Ala422Thr)
NM_003664.5(AP3B1):c.128+4A>G
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=) rs954170484
NM_003664.5(AP3B1):c.1292G>A (p.Cys431Tyr) rs751127592
NM_003664.5(AP3B1):c.1297A>G (p.Thr433Ala)
NM_003664.5(AP3B1):c.1301A>C (p.Asn434Thr) rs1289085829
NM_003664.5(AP3B1):c.1301A>G (p.Asn434Ser)
NM_003664.5(AP3B1):c.1342T>C (p.Cys448Arg)
NM_003664.5(AP3B1):c.1367T>A (p.Ile456Lys)
NM_003664.5(AP3B1):c.1387GTT[1] (p.Val464del)
NM_003664.5(AP3B1):c.1390G>C (p.Val464Leu)
NM_003664.5(AP3B1):c.1392T>G (p.Val464=) rs886060774
NM_003664.5(AP3B1):c.1427A>T (p.His476Leu)
NM_003664.5(AP3B1):c.1435A>C (p.Ile479Leu) rs2112357067
NM_003664.5(AP3B1):c.1436T>C (p.Ile479Thr) rs757746058
NM_003664.5(AP3B1):c.1438A>G (p.Ile480Val)
NM_003664.5(AP3B1):c.1495A>G (p.Ile499Val)
NM_003664.5(AP3B1):c.1509T>A (p.Ile503=) rs1480759584
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln) rs193920974
NM_003664.5(AP3B1):c.1531C>T (p.Pro511Ser)
NM_003664.5(AP3B1):c.1544C>G (p.Pro515Arg) rs1753134356
NM_003664.5(AP3B1):c.1550T>C (p.Val517Ala) rs2112326945
NM_003664.5(AP3B1):c.1562T>C (p.Met521Thr)
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn) rs779511911
NM_003664.5(AP3B1):c.1589A>G (p.Asp530Gly)
NM_003664.5(AP3B1):c.1596A>G (p.Val532=)
NM_003664.5(AP3B1):c.1608A>G (p.Ile536Met)
NM_003664.5(AP3B1):c.1635A>C (p.Leu545Phe)
NM_003664.5(AP3B1):c.1675T>A (p.Leu559Ile) rs770281960
NM_003664.5(AP3B1):c.1702T>C (p.Tyr568His) rs1752591935
NM_003664.5(AP3B1):c.1717C>T (p.Arg573Cys)
NM_003664.5(AP3B1):c.1721C>T (p.Thr574Ile)
NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala) rs1580385068
NM_003664.5(AP3B1):c.1754T>C (p.Val585Ala) rs6453373
NM_003664.5(AP3B1):c.1756A>G (p.Lys586Glu)
NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)
NM_003664.5(AP3B1):c.1811C>T (p.Ala604Val) rs2112300913
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn) rs1752586022
NM_003664.5(AP3B1):c.1838-2_1838-1insAAA rs1290648194
NM_003664.5(AP3B1):c.1840A>G (p.Arg614Gly) rs769757592
NM_003664.5(AP3B1):c.1853A>G (p.Gln618Arg) rs2112298805
NM_003664.5(AP3B1):c.1868C>T (p.Ser623Phe) rs755372821
NM_003664.5(AP3B1):c.1873A>G (p.Thr625Ala) rs199908785
NM_003664.5(AP3B1):c.1874C>G (p.Thr625Ser)
NM_003664.5(AP3B1):c.1874C>T (p.Thr625Ile)
NM_003664.5(AP3B1):c.1882A>G (p.Ile628Val)
NM_003664.5(AP3B1):c.1892C>T (p.Thr631Ile) rs1752538898
NM_003664.5(AP3B1):c.1933G>A (p.Asp645Asn) rs797045241
NM_003664.5(AP3B1):c.1937C>T (p.Pro646Leu)
NM_003664.5(AP3B1):c.1951G>C (p.Val651Leu) rs755219130
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.1988C>T (p.Ala663Val) rs2112265534
NM_003664.5(AP3B1):c.2009A>C (p.Asn670Thr) rs757825991
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe) rs886060773
NM_003664.5(AP3B1):c.2015C>G (p.Ala672Gly) rs2112265444
NM_003664.5(AP3B1):c.2027A>G (p.Tyr676Cys) rs759438615
NM_003664.5(AP3B1):c.2066G>T (p.Ser689Ile)
NM_003664.5(AP3B1):c.2087C>G (p.Ser696Cys)
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn) rs886060772
NM_003664.5(AP3B1):c.2095G>A (p.Glu699Lys)
NM_003664.5(AP3B1):c.211G>A (p.Ala71Thr)
NM_003664.5(AP3B1):c.2122_2123delinsTT (p.Glu708Leu) rs2112260341
NM_003664.5(AP3B1):c.2129G>A (p.Gly710Glu) rs777032367
NM_003664.5(AP3B1):c.2129G>C (p.Gly710Ala) rs777032367
NM_003664.5(AP3B1):c.2129G>T (p.Gly710Val) rs777032367
NM_003664.5(AP3B1):c.2138A>G (p.Asn713Ser)
NM_003664.5(AP3B1):c.2146A>C (p.Ser716Arg) rs1365271615
NM_003664.5(AP3B1):c.2162C>G (p.Ser721Cys) rs2112260253
NM_003664.5(AP3B1):c.2198G>T (p.Gly733Val)
NM_003664.5(AP3B1):c.2218G>A (p.Ala740Thr)
NM_003664.5(AP3B1):c.2257G>A (p.Glu753Lys)
NM_003664.5(AP3B1):c.2270A>G (p.Lys757Arg) rs745461947
NM_003664.5(AP3B1):c.2279A>G (p.Glu760Gly) rs2112252523
NM_003664.5(AP3B1):c.2324T>C (p.Ile775Thr) rs62001050
NM_003664.5(AP3B1):c.2326G>A (p.Glu776Lys)
NM_003664.5(AP3B1):c.2332A>C (p.Ser778Arg) rs1334114879
NM_003664.5(AP3B1):c.2333G>A (p.Ser778Asn)
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) rs532221135
NM_003664.5(AP3B1):c.2353G>C (p.Glu785Gln)
NM_003664.5(AP3B1):c.236T>C (p.Leu79Pro) rs1747105618
NM_003664.5(AP3B1):c.2389G>A (p.Val797Ile) rs770603726
NM_003664.5(AP3B1):c.2401A>G (p.Lys801Glu)
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly) rs886060771
NM_003664.5(AP3B1):c.2411A>C (p.Lys804Thr) rs1028498771
NM_003664.5(AP3B1):c.2438C>G (p.Thr813Ser)
NM_003664.5(AP3B1):c.2452C>G (p.Leu818Val) rs1751097725
NM_003664.5(AP3B1):c.2471-16G>A rs760243722
NM_003664.5(AP3B1):c.2474A>G (p.Asn825Ser) rs1580331287
NM_003664.5(AP3B1):c.2492T>G (p.Val831Gly)
NM_003664.5(AP3B1):c.2513T>G (p.Leu838Arg)
NM_003664.5(AP3B1):c.2531C>T (p.Ala844Val)
NM_003664.5(AP3B1):c.2542G>A (p.Gly848Ser)
NM_003664.5(AP3B1):c.2548C>A (p.His850Asn) rs201936976
NM_003664.5(AP3B1):c.2567C>T (p.Ser856Leu)
NM_003664.5(AP3B1):c.2573T>A (p.Ile858Asn)
NM_003664.5(AP3B1):c.2585C>A (p.Thr862Asn)
NM_003664.5(AP3B1):c.2603C>T (p.Thr868Met) rs1398038084
NM_003664.5(AP3B1):c.2629A>G (p.Met877Val)
NM_003664.5(AP3B1):c.262G>C (p.Ala88Pro)
NM_003664.5(AP3B1):c.2632A>G (p.Ser878Gly) rs2112100501
NM_003664.5(AP3B1):c.2641G>C (p.Gly881Arg) rs2112100469
NM_003664.5(AP3B1):c.2656T>C (p.Tyr886His) rs2112100439
NM_003664.5(AP3B1):c.265A>G (p.Ser89Gly) rs748322548
NM_003664.5(AP3B1):c.2673G>C (p.Gln891His) rs770455413
NM_003664.5(AP3B1):c.2674C>A (p.Pro892Thr) rs2112100401
NM_003664.5(AP3B1):c.2683T>A (p.Phe895Ile) rs1747942141
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
NM_003664.5(AP3B1):c.2695_2696insATC (p.Met899delinsAsnLeu)
NM_003664.5(AP3B1):c.26A>G (p.Asn9Ser) rs868369063
NM_003664.5(AP3B1):c.2725A>G (p.Thr909Ala)
NM_003664.5(AP3B1):c.2726C>T (p.Thr909Ile) rs1747940185
NM_003664.5(AP3B1):c.2741T>C (p.Ile914Thr)
NM_003664.5(AP3B1):c.2759G>A (p.Gly920Glu)
NM_003664.5(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.2780G>A (p.Gly927Asp) rs866308304
NM_003664.5(AP3B1):c.2783T>C (p.Met928Thr)
NM_003664.5(AP3B1):c.279+19A>G rs756610617
NM_003664.5(AP3B1):c.280-4_280-3insG
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.5(AP3B1):c.2891T>C (p.Leu964Ser)
NM_003664.5(AP3B1):c.2893T>C (p.Cys965Arg) rs2112091461
NM_003664.5(AP3B1):c.2894+6T>C
NM_003664.5(AP3B1):c.28G>A (p.Glu10Lys) rs1749672035
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly) rs886060770
NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser) rs1580247322
NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile) rs745653147
NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr)
NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)
NM_003664.5(AP3B1):c.2993-3C>T rs1746824105
NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala) rs781365567
NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val)
NM_003664.5(AP3B1):c.310C>G (p.Arg104Gly) rs1746480237
NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His) rs764848036
NM_003664.5(AP3B1):c.311G>T (p.Arg104Leu)
NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg) rs2112054033
NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) rs1397315776
NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala) rs137901104
NM_003664.5(AP3B1):c.328C>G (p.Gln110Glu)
NM_003664.5(AP3B1):c.338C>T (p.Ala113Val)
NM_003664.5(AP3B1):c.349A>G (p.Ile117Val)
NM_003664.5(AP3B1):c.34T>C (p.Ser12Pro) rs2112607296
NM_003664.5(AP3B1):c.353G>A (p.Ser118Asn) rs1746477844
NM_003664.5(AP3B1):c.387A>T (p.Gln129His) rs1229682546
NM_003664.5(AP3B1):c.403G>A (p.Ala135Thr) rs1270734050
NM_003664.5(AP3B1):c.425_427dup (p.Ile142dup) rs759424724
NM_003664.5(AP3B1):c.439A>G (p.Ile147Val) rs2112494710
NM_003664.5(AP3B1):c.454A>C (p.Met152Leu) rs2112494693
NM_003664.5(AP3B1):c.482A>G (p.Asp161Gly)
NM_003664.5(AP3B1):c.547G>C (p.Glu183Gln)
NM_003664.5(AP3B1):c.566T>C (p.Ile189Thr)
NM_003664.5(AP3B1):c.570A>G (p.Glu190=) rs2112491939
NM_003664.5(AP3B1):c.603+16T>G rs2112491852
NM_003664.5(AP3B1):c.647C>T (p.Pro216Leu) rs762212366
NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu) rs1302695682
NM_003664.5(AP3B1):c.716G>T (p.Trp239Leu) rs869312837
NM_003664.5(AP3B1):c.720G>A (p.Gly240=) rs886060775
NM_003664.5(AP3B1):c.725T>C (p.Val242Ala) rs1580498432
NM_003664.5(AP3B1):c.730A>G (p.Ile244Val)
NM_003664.5(AP3B1):c.734T>C (p.Ile245Thr) rs753890496
NM_003664.5(AP3B1):c.74C>T (p.Thr25Ile) rs2112607227
NM_003664.5(AP3B1):c.754G>A (p.Ala252Thr)
NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)
NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu) rs1260956613
NM_003664.5(AP3B1):c.786+6T>A rs1332793203
NM_003664.5(AP3B1):c.787G>A (p.Gly263Ser) rs1044368703
NM_003664.5(AP3B1):c.788G>A (p.Gly263Asp) rs1744376789
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly) rs147761913
NM_003664.5(AP3B1):c.835G>A (p.Asp279Asn) rs751922416
NM_003664.5(AP3B1):c.836A>T (p.Asp279Val) rs1744372518
NM_003664.5(AP3B1):c.841A>G (p.Lys281Glu) rs1437339620
NM_003664.5(AP3B1):c.86C>T (p.Ser29Phe)
NM_003664.5(AP3B1):c.878T>C (p.Met293Thr)
NM_003664.5(AP3B1):c.890A>T (p.His297Leu) rs1744369394
NM_003664.5(AP3B1):c.8G>C (p.Ser3Thr)
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys) rs1744368521
NM_003664.5(AP3B1):c.908A>C (p.Asn303Thr) rs2112414100
NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser) rs1456578906
NM_003664.5(AP3B1):c.938C>A (p.Ala313Asp)
NM_003664.5(AP3B1):c.944T>C (p.Val315Ala) rs1744194194
NM_003664.5(AP3B1):c.946G>A (p.Val316Ile) rs1744194052
NM_003664.5(AP3B1):c.973C>T (p.His325Tyr)
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_003664.5(AP3B1):c.985A>G (p.Lys329Glu) rs2112405535
NM_003664.5(AP3B1):c.994G>T (p.Ala332Ser) rs2112405528

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