ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 443
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.-530A>G rs3747137 0.11724
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751 0.06757
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_001271769.2(AP3B1):c.*588A>G rs114954951 0.02413
NM_181507.2(HPS5):c.1785-13C>T rs73430857 0.02128
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728 0.02127
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_022081.6(HPS4):c.*1850G>A rs143168600 0.00456
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168 0.00411
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_001261826.3(AP3D1):c.463-4G>A rs192634153 0.00324
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_000195.5(HPS1):c.*736C>T rs149708847 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_022081.6(HPS4):c.*1589C>A rs117397456 0.00238
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132 0.00237
NM_012388.4(BLOC1S6):c.82+10A>G rs370370639 0.00235
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
NM_022081.6(HPS4):c.15C>T (p.Thr5=) rs144622501 0.00193
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_022081.6(HPS4):c.-185A>G rs188205202 0.00154
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_022081.6(HPS4):c.*1253G>A rs534586940 0.00121
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_022081.6(HPS4):c.-585T>G rs187762406 0.00105
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_181507.2(HPS5):c.*70C>T rs371535842 0.00087
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00054
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=) rs114872740 0.00047
NM_022081.6(HPS4):c.-395A>C rs147631281 0.00047
NM_022081.5(HPS4):c.-661G>T rs753668169 0.00045
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly) rs141366997 0.00043
NM_022081.6(HPS4):c.*751G>A rs190837977 0.00039
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) rs149563235 0.00034
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=) rs142938290 0.00024
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_181507.2(HPS5):c.*688A>G rs145507598 0.00024
NM_181507.2(HPS5):c.*362G>A rs148862838 0.00021
NM_000195.5(HPS1):c.118-19T>A rs758750874 0.00020
NM_000195.5(HPS1):c.1801C>T (p.Leu601=) rs368146160 0.00020
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys) rs143204089 0.00019
NM_003664.5(AP3B1):c.1995A>G (p.Lys665=) rs201097736 0.00017
NM_012388.4(BLOC1S6):c.51C>G (p.Pro17=) rs150470765 0.00017
NM_032383.5(HPS3):c.1769G>A (p.Arg590His) rs145158238 0.00017
NM_032122.5(DTNBP1):c.512-16T>C rs112527545 0.00016
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087 0.00015
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 0.00014
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) rs768146409 0.00012
NM_003664.5(AP3B1):c.1650+18dup rs766343354 0.00011
NM_003664.5(AP3B1):c.1650+20C>G rs374194943 0.00011
NM_000195.5(HPS1):c.507+15C>T rs374761960 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304 0.00009
NM_003664.5(AP3B1):c.942+17A>G rs377061172 0.00009
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116 0.00009
NM_012388.4(BLOC1S6):c.318T>C (p.Ala106=) rs752899247 0.00009
NM_003664.5(AP3B1):c.2424T>C (p.Asp808=) rs144240072 0.00008
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_000195.5(HPS1):c.90C>T (p.Phe30=) rs765362355 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.2709A>G (p.Gln903=) rs774631707 0.00007
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721 0.00007
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_003664.5(AP3B1):c.2025T>C (p.Phe675=) rs370684531 0.00006
NM_003664.5(AP3B1):c.2578-12C>T rs532846547 0.00006
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys) rs373272114 0.00006
NM_032122.5(DTNBP1):c.355+10A>G rs368923800 0.00006
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) rs750402363 0.00006
NM_181507.2(HPS5):c.240C>T (p.Val80=) rs138423875 0.00006
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
NM_000195.5(HPS1):c.1860G>A (p.Gly620=) rs376722018 0.00005
NM_000195.5(HPS1):c.909A>G (p.Pro303=) rs139169204 0.00005
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_003664.5(AP3B1):c.603+20G>A rs377222228 0.00005
NM_000195.5(HPS1):c.1164C>T (p.Ser388=) rs747305546 0.00004
NM_000195.5(HPS1):c.1341C>G (p.Thr447=) rs990213443 0.00004
NM_000195.5(HPS1):c.1532+14G>A rs761708348 0.00004
NM_000195.5(HPS1):c.1940+9G>A rs757142456 0.00004
NM_000195.5(HPS1):c.1977C>T (p.Thr659=) rs751349303 0.00004
NM_000195.5(HPS1):c.204C>T (p.Thr68=) rs149759513 0.00004
NM_003664.5(AP3B1):c.1821T>C (p.Leu607=) rs768721394 0.00004
NM_003664.5(AP3B1):c.1837+16A>G rs757331102 0.00004
NM_003664.5(AP3B1):c.1838-5A>G rs779897317 0.00004
NM_003664.5(AP3B1):c.388C>T (p.Leu130=) rs138774723 0.00004
NM_003664.5(AP3B1):c.536+20del rs773391461 0.00004
NM_003664.5(AP3B1):c.648G>A (p.Pro216=) rs773924247 0.00004
NM_012388.4(BLOC1S6):c.72G>A (p.Glu24=) rs768535324 0.00004
NM_032383.5(HPS3):c.957C>G (p.Pro319=) rs751233801 0.00004
NM_000195.5(HPS1):c.1533-6C>T rs751468611 0.00003
NM_003664.5(AP3B1):c.1095+20G>A rs1003488988 0.00003
NM_003664.5(AP3B1):c.1473+11A>G rs373481590 0.00003
NM_003664.5(AP3B1):c.2172G>A (p.Gln724=) rs551799202 0.00003
NM_003664.5(AP3B1):c.2992+10G>A rs375250754 0.00003
NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=) rs746152289 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_003664.5(AP3B1):c.603+19C>T rs201278348 0.00003
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) rs147593958 0.00003
NM_000195.5(HPS1):c.1896C>T (p.Ser632=) rs760508807 0.00002
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_003664.5(AP3B1):c.1050G>A (p.Gln350=) rs760881363 0.00002
NM_003664.5(AP3B1):c.1167+15A>G rs368393559 0.00002
NM_003664.5(AP3B1):c.1651-5A>G rs1356238571 0.00002
NM_003664.5(AP3B1):c.1722A>C (p.Thr574=) rs754956851 0.00002
NM_003664.5(AP3B1):c.2700C>T (p.Val900=) rs756834284 0.00002
NM_003664.5(AP3B1):c.2895-19T>A rs779085657 0.00002
NM_003664.5(AP3B1):c.375+18T>A rs775724254 0.00002
NM_003664.5(AP3B1):c.943-9A>T rs776758618 0.00002
NM_012388.4(BLOC1S6):c.210C>T (p.Ala70=) rs761132701 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_000195.5(HPS1):c.-219C>G rs574471533 0.00001
NM_000195.5(HPS1):c.1245C>T (p.Pro415=) rs879797527 0.00001
NM_000195.5(HPS1):c.1383C>T (p.Pro461=) rs763241171 0.00001
NM_000195.5(HPS1):c.1398-9C>T rs773047618 0.00001
NM_000195.5(HPS1):c.1532+13C>T rs202086569 0.00001
NM_000195.5(HPS1):c.1533-16G>A rs763995634 0.00001
NM_000195.5(HPS1):c.1545G>A (p.Thr515=) rs141596696 0.00001
NM_000195.5(HPS1):c.1598+11G>A rs538837544 0.00001
NM_000195.5(HPS1):c.2037G>A (p.Leu679=) rs773611107 0.00001
NM_000195.5(HPS1):c.399-5C>T rs765780669 0.00001
NM_000195.5(HPS1):c.498C>T (p.Phe166=) rs375340317 0.00001
NM_000195.5(HPS1):c.507+14G>A rs367821874 0.00001
NM_000195.5(HPS1):c.570C>T (p.His190=) rs1028581867 0.00001
NM_000195.5(HPS1):c.867+11T>C rs745977366 0.00001
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=) rs767889885 0.00001
NM_003664.5(AP3B1):c.1020G>A (p.Val340=) rs145787996 0.00001
NM_003664.5(AP3B1):c.1040+14T>A rs1355146687 0.00001
NM_003664.5(AP3B1):c.1040+20A>G rs369301345 0.00001
NM_003664.5(AP3B1):c.1041-9G>T rs1474245373 0.00001
NM_003664.5(AP3B1):c.1095+19C>T rs377078977 0.00001
NM_003664.5(AP3B1):c.1140T>G (p.Thr380=) rs752592265 0.00001
NM_003664.5(AP3B1):c.1161A>T (p.Thr387=) rs746601394 0.00001
NM_003664.5(AP3B1):c.1236T>C (p.Tyr412=) rs1468639815 0.00001
NM_003664.5(AP3B1):c.1275T>C (p.Ile425=) rs1174063218 0.00001
NM_003664.5(AP3B1):c.1364-11A>G rs759174401 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_003664.5(AP3B1):c.1467T>C (p.Ser489=) rs772984182 0.00001
NM_003664.5(AP3B1):c.1650+14G>A rs753974452 0.00001
NM_003664.5(AP3B1):c.1837+10G>A rs1028071929 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 0.00001
NM_003664.5(AP3B1):c.1932C>T (p.Pro644=) rs368771979 0.00001
NM_003664.5(AP3B1):c.1968+9A>G rs750895201 0.00001
NM_003664.5(AP3B1):c.205-10T>A rs1340696750 0.00001
NM_003664.5(AP3B1):c.2250-13C>T rs774882416 0.00001
NM_003664.5(AP3B1):c.2502C>G (p.Pro834=) rs747086403 0.00001
NM_003664.5(AP3B1):c.2622T>G (p.Leu874=) rs1471301912 0.00001
NM_003664.5(AP3B1):c.2809+14C>A rs754832294 0.00001
NM_003664.5(AP3B1):c.2809+16C>T rs951058281 0.00001
NM_003664.5(AP3B1):c.2853T>C (p.Ile951=) rs1263221940 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_003664.5(AP3B1):c.2922T>C (p.Asn974=) rs1256709729 0.00001
NM_003664.5(AP3B1):c.2928G>A (p.Gln976=) rs1199672973 0.00001
NM_003664.5(AP3B1):c.2992+20T>C rs755171790 0.00001
NM_003664.5(AP3B1):c.306G>C (p.Leu102=) rs746322233 0.00001
NM_003664.5(AP3B1):c.536+9A>G rs771528600 0.00001
NM_003664.5(AP3B1):c.537-7T>A rs773657171 0.00001
NM_003664.5(AP3B1):c.855C>T (p.Asp285=) rs79932334 0.00001
NM_003664.5(AP3B1):c.870G>A (p.Pro290=) rs566729844 0.00001
NM_003664.5(AP3B1):c.954A>C (p.Ala318=) rs1744193916 0.00001
NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=) rs372182517 0.00001
NM_012388.4(BLOC1S6):c.186A>G (p.Pro62=) rs1209687570 0.00001
NM_012388.4(BLOC1S6):c.224+11A>G rs777210501 0.00001
NM_012388.4(BLOC1S6):c.264G>A (p.Glu88=) rs761723925 0.00001
NM_012388.4(BLOC1S6):c.282A>G (p.Glu94=) rs774700428 0.00001
NM_012388.4(BLOC1S6):c.313-9C>T rs765107661 0.00001
NM_012388.4(BLOC1S6):c.69G>A (p.Gly23=) rs774804135 0.00001
NM_012388.4(BLOC1S6):c.75G>A (p.Pro25=) rs1342184206 0.00001
NM_012388.4(BLOC1S6):c.82+8C>G rs1386198190 0.00001
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00001
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=) rs367543105 0.00001
NM_032383.5(HPS3):c.2181C>T (p.Thr727=) rs573058813 0.00001
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser) rs547880287 0.00001
NM_000195.5(HPS1):c.1239G>A (p.Pro413=) rs777125097
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.1533-17C>T rs187227619
NM_000195.5(HPS1):c.198G>C (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg) rs11592273
NM_003664.5(AP3B1):c.1040+17T>G
NM_003664.5(AP3B1):c.1041-15T>A rs2112402058
NM_003664.5(AP3B1):c.1047G>A (p.Val349=)
NM_003664.5(AP3B1):c.105C>T (p.Gly35=)
NM_003664.5(AP3B1):c.1095+17C>G
NM_003664.5(AP3B1):c.1095+20G>T
NM_003664.5(AP3B1):c.1095+9G>A
NM_003664.5(AP3B1):c.1096-16T>C
NM_003664.5(AP3B1):c.1096-7A>T rs2112401625
NM_003664.5(AP3B1):c.1096-9G>A
NM_003664.5(AP3B1):c.1125C>T (p.Phe375=)
NM_003664.5(AP3B1):c.1143T>C (p.Asp381=)
NM_003664.5(AP3B1):c.1167+11T>C rs2112401362
NM_003664.5(AP3B1):c.1167+8T>C
NM_003664.5(AP3B1):c.1168-12_1168-8del
NM_003664.5(AP3B1):c.1168-4A>G
NM_003664.5(AP3B1):c.1168-7A>G rs780180977
NM_003664.5(AP3B1):c.1219C>A (p.Arg407=) rs768390608
NM_003664.5(AP3B1):c.1230+10C>T rs1580431334
NM_003664.5(AP3B1):c.1230+12G>A
NM_003664.5(AP3B1):c.1230+13T>C
NM_003664.5(AP3B1):c.1231-9A>G
NM_003664.5(AP3B1):c.1245C>T (p.Ser415=)
NM_003664.5(AP3B1):c.1260T>C (p.Phe420=)
NM_003664.5(AP3B1):c.128+20T>C
NM_003664.5(AP3B1):c.128+8G>A
NM_003664.5(AP3B1):c.129-14C>T rs904956491
NM_003664.5(AP3B1):c.129-14_129-10del rs982597895
NM_003664.5(AP3B1):c.129-14_129-12del
NM_003664.5(AP3B1):c.129-19T>C
NM_003664.5(AP3B1):c.129-9_129-8del rs2112562563
NM_003664.5(AP3B1):c.1323G>A (p.Thr441=)
NM_003664.5(AP3B1):c.1347G>A (p.Leu449=)
NM_003664.5(AP3B1):c.1350G>C (p.Leu450=)
NM_003664.5(AP3B1):c.1356C>T (p.Asn452=)
NM_003664.5(AP3B1):c.1363+10C>T rs2112370696
NM_003664.5(AP3B1):c.1364-15T>G
NM_003664.5(AP3B1):c.1364-4del rs1188997693
NM_003664.5(AP3B1):c.1473+15A>C
NM_003664.5(AP3B1):c.1474-18A>T
NM_003664.5(AP3B1):c.1491A>G (p.Ala497=) rs2112327078
NM_003664.5(AP3B1):c.15T>C (p.Ser5=)
NM_003664.5(AP3B1):c.1605G>A (p.Gln535=) rs200769344
NM_003664.5(AP3B1):c.1614T>C (p.Asn538=)
NM_003664.5(AP3B1):c.1627T>C (p.Leu543=)
NM_003664.5(AP3B1):c.1651-11T>C
NM_003664.5(AP3B1):c.1651-14dup rs1333771177
NM_003664.5(AP3B1):c.1651-9T>C rs2112301377
NM_003664.5(AP3B1):c.1675T>C (p.Leu559=)
NM_003664.5(AP3B1):c.1707C>T (p.Asp569=)
NM_003664.5(AP3B1):c.1734G>A (p.Arg578=)
NM_003664.5(AP3B1):c.1764A>G (p.Gly588=)
NM_003664.5(AP3B1):c.1798G>T (p.Ala600Ser) rs149263390
NM_003664.5(AP3B1):c.1812A>G (p.Ala604=)
NM_003664.5(AP3B1):c.1816C>T (p.Leu606=)
NM_003664.5(AP3B1):c.1838-13C>G
NM_003664.5(AP3B1):c.1838-16T>C
NM_003664.5(AP3B1):c.1878C>T (p.Leu626=)
NM_003664.5(AP3B1):c.1914T>C (p.Asn638=)
NM_003664.5(AP3B1):c.1929G>T (p.Ala643=)
NM_003664.5(AP3B1):c.1932C>A (p.Pro644=)
NM_003664.5(AP3B1):c.1935C>T (p.Asp645=)
NM_003664.5(AP3B1):c.1947A>T (p.Arg649=)
NM_003664.5(AP3B1):c.1968+8del rs2112298486
NM_003664.5(AP3B1):c.1969-17T>C
NM_003664.5(AP3B1):c.1969-20T>A rs1394988514
NM_003664.5(AP3B1):c.1969-20T>C rs1394988514
NM_003664.5(AP3B1):c.2001G>A (p.Lys667=)
NM_003664.5(AP3B1):c.2034A>G (p.Glu678=) rs766320781
NM_003664.5(AP3B1):c.204+14T>A
NM_003664.5(AP3B1):c.205-10del
NM_003664.5(AP3B1):c.205-12T>C
NM_003664.5(AP3B1):c.205-20C>T
NM_003664.5(AP3B1):c.2077+18T>C
NM_003664.5(AP3B1):c.2078-11C>T
NM_003664.5(AP3B1):c.2088T>C (p.Ser696=) rs200618231
NM_003664.5(AP3B1):c.2100T>C (p.Ser700=)
NM_003664.5(AP3B1):c.213A>G (p.Ala71=)
NM_003664.5(AP3B1):c.2148C>T (p.Ser716=)
NM_003664.5(AP3B1):c.2160C>T (p.Ser720=)
NM_003664.5(AP3B1):c.2190G>A (p.Arg730=) rs2112260185
NM_003664.5(AP3B1):c.2202A>C (p.Leu734=)
NM_003664.5(AP3B1):c.2220C>T (p.Ala740=)
NM_003664.5(AP3B1):c.2250-6G>A
NM_003664.5(AP3B1):c.2322A>G (p.Ser774=)
NM_003664.5(AP3B1):c.2382C>T (p.Ser794=) rs920648897
NM_003664.5(AP3B1):c.2397+7del
NM_003664.5(AP3B1):c.2398-12del
NM_003664.5(AP3B1):c.2398-16A>G
NM_003664.5(AP3B1):c.2398-18A>G
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.2427A>G (p.Arg809=)
NM_003664.5(AP3B1):c.2433T>C (p.Pro811=) rs2112233233
NM_003664.5(AP3B1):c.2455C>T (p.Leu819=)
NM_003664.5(AP3B1):c.2470+9dup
NM_003664.5(AP3B1):c.2471-16G>C
NM_003664.5(AP3B1):c.2471-20A>G
NM_003664.5(AP3B1):c.2478A>G (p.Pro826=)
NM_003664.5(AP3B1):c.2490A>G (p.Pro830=)
NM_003664.5(AP3B1):c.2568A>G (p.Ser856=)
NM_003664.5(AP3B1):c.2577+9T>C
NM_003664.5(AP3B1):c.2578-7G>A
NM_003664.5(AP3B1):c.2601A>G (p.Pro867=)
NM_003664.5(AP3B1):c.2607A>G (p.Lys869=)
NM_003664.5(AP3B1):c.2673G>A (p.Gln891=) rs770455413
NM_003664.5(AP3B1):c.2715A>G (p.Thr905=)
NM_003664.5(AP3B1):c.2730T>G (p.Thr910=)
NM_003664.5(AP3B1):c.2734C>A (p.Arg912=)
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.2769A>G (p.Lys923=) rs201179527
NM_003664.5(AP3B1):c.2772T>A (p.Leu924=)
NM_003664.5(AP3B1):c.279+18A>G
NM_003664.5(AP3B1):c.2793T>C (p.His931=) rs2112100041
NM_003664.5(AP3B1):c.280-14_280-13dup rs5868908
NM_003664.5(AP3B1):c.280-16G>T
NM_003664.5(AP3B1):c.280-5A>T
NM_003664.5(AP3B1):c.280-6T>A
NM_003664.5(AP3B1):c.2809+15T>C
NM_003664.5(AP3B1):c.2809+20T>G rs2112099938
NM_003664.5(AP3B1):c.2810-10T>C
NM_003664.5(AP3B1):c.2810-7T>A rs1747713195
NM_003664.5(AP3B1):c.2810-9A>G
NM_003664.5(AP3B1):c.2823T>C (p.Pro941=)
NM_003664.5(AP3B1):c.2832C>T (p.Ser944=)
NM_003664.5(AP3B1):c.2856C>T (p.Asp952=) rs912620993
NM_003664.5(AP3B1):c.2894+10A>G
NM_003664.5(AP3B1):c.2895-12G>T
NM_003664.5(AP3B1):c.2907T>C (p.Asp969=)
NM_003664.5(AP3B1):c.2993-12T>C
NM_003664.5(AP3B1):c.2994A>T (p.Gly998=)
NM_003664.5(AP3B1):c.3000A>G (p.Leu1000=)
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.3060T>C (p.Ser1020=)
NM_003664.5(AP3B1):c.3123T>C (p.Asn1041=) rs1561354415
NM_003664.5(AP3B1):c.3131+18C>T
NM_003664.5(AP3B1):c.3131+19G>C rs769957838
NM_003664.5(AP3B1):c.3132-16C>T
NM_003664.5(AP3B1):c.3132-5T>C rs2112028477
NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=) rs748447113
NM_003664.5(AP3B1):c.3195C>G (p.Gly1065=) rs751258161
NM_003664.5(AP3B1):c.3201A>T (p.Thr1067=)
NM_003664.5(AP3B1):c.3204C>G (p.Ala1068=)
NM_003664.5(AP3B1):c.3237T>A (p.Ile1079=) rs1192574805
NM_003664.5(AP3B1):c.3264G>A (p.Lys1088=)
NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)
NM_003664.5(AP3B1):c.376-11A>C
NM_003664.5(AP3B1):c.376-13G>A rs1185982935
NM_003664.5(AP3B1):c.39A>G (p.Gly13=) rs1488407842
NM_003664.5(AP3B1):c.513C>G (p.Ala171=) rs2112494604
NM_003664.5(AP3B1):c.529T>C (p.Leu177=)
NM_003664.5(AP3B1):c.536+8C>A
NM_003664.5(AP3B1):c.604-17A>G
NM_003664.5(AP3B1):c.63T>C (p.Gly21=) rs776252237
NM_003664.5(AP3B1):c.681C>G (p.Arg227=)
NM_003664.5(AP3B1):c.702G>T (p.Val234=) rs1745952689
NM_003664.5(AP3B1):c.705T>C (p.Asp235=) rs779084730
NM_003664.5(AP3B1):c.723G>A (p.Gln241=)
NM_003664.5(AP3B1):c.738C>T (p.His246=) rs912124016
NM_003664.5(AP3B1):c.750A>G (p.Arg250=)
NM_003664.5(AP3B1):c.759G>A (p.Arg253=)
NM_003664.5(AP3B1):c.786+15G>A
NM_003664.5(AP3B1):c.84T>A (p.Ile28=)
NM_003664.5(AP3B1):c.894A>G (p.Arg298=) rs1580453466
NM_003664.5(AP3B1):c.915G>A (p.Lys305=) rs751927249
NM_003664.5(AP3B1):c.942+17A>T
NM_003664.5(AP3B1):c.942+8A>G
NM_003664.5(AP3B1):c.943-9A>G rs776758618
NM_003664.5(AP3B1):c.957T>G (p.Val319=) rs2112405584
NM_003664.5(AP3B1):c.966G>A (p.Leu322=)
NM_003664.5(AP3B1):c.975C>T (p.His325=) rs2112405548
NM_012388.4(BLOC1S6):c.123C>T (p.Asp41=) rs2140904529
NM_012388.4(BLOC1S6):c.141A>G (p.Lys47=) rs2140904555
NM_012388.4(BLOC1S6):c.147G>A (p.Val49=)
NM_012388.4(BLOC1S6):c.171T>C (p.Leu57=)
NM_012388.4(BLOC1S6):c.174T>A (p.Ser58=) rs2140904620
NM_012388.4(BLOC1S6):c.198A>G (p.Arg66=) rs1329457663
NM_012388.4(BLOC1S6):c.201A>C (p.Ser67=)
NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=)
NM_012388.4(BLOC1S6):c.21G>A (p.Ser7=)
NM_012388.4(BLOC1S6):c.224+10T>C
NM_012388.4(BLOC1S6):c.224+15A>C
NM_012388.4(BLOC1S6):c.224+17C>T
NM_012388.4(BLOC1S6):c.224+18C>A rs2140904710
NM_012388.4(BLOC1S6):c.224+18C>G
NM_012388.4(BLOC1S6):c.225-13G>A rs1010778337
NM_012388.4(BLOC1S6):c.225-16T>C
NM_012388.4(BLOC1S6):c.225-17G>A
NM_012388.4(BLOC1S6):c.225-19C>T
NM_012388.4(BLOC1S6):c.225-4dup
NM_012388.4(BLOC1S6):c.240A>G (p.Val80=)
NM_012388.4(BLOC1S6):c.249C>T (p.Asp83=)
NM_012388.4(BLOC1S6):c.253C>T (p.Leu85=)
NM_012388.4(BLOC1S6):c.255G>A (p.Leu85=)
NM_012388.4(BLOC1S6):c.309T>C (p.Ala103=)
NM_012388.4(BLOC1S6):c.312+17T>A
NM_012388.4(BLOC1S6):c.312+7A>G
NM_012388.4(BLOC1S6):c.313-7T>C
NM_012388.4(BLOC1S6):c.327A>G (p.Lys109=) rs2140918976
NM_012388.4(BLOC1S6):c.343T>C (p.Leu115=) rs2140919014
NM_012388.4(BLOC1S6):c.367C>T (p.Leu123=)
NM_012388.4(BLOC1S6):c.36C>T (p.Ala12=) rs1426071548
NM_012388.4(BLOC1S6):c.384A>G (p.Lys128=)
NM_012388.4(BLOC1S6):c.387A>G (p.Thr129=) rs1188577933
NM_012388.4(BLOC1S6):c.399+10A>G
NM_012388.4(BLOC1S6):c.399+13T>A
NM_012388.4(BLOC1S6):c.399+14T>G rs2140919137
NM_012388.4(BLOC1S6):c.399+18dup
NM_012388.4(BLOC1S6):c.39G>A (p.Leu13=)
NM_012388.4(BLOC1S6):c.400-13T>C
NM_012388.4(BLOC1S6):c.400-16T>A
NM_012388.4(BLOC1S6):c.400-17T>A
NM_012388.4(BLOC1S6):c.400-5C>T
NM_012388.4(BLOC1S6):c.400-6A>C
NM_012388.4(BLOC1S6):c.400-6dup rs1255019451
NM_012388.4(BLOC1S6):c.400-7A>G
NM_012388.4(BLOC1S6):c.408A>G (p.Ala136=)
NM_012388.4(BLOC1S6):c.408A>T (p.Ala136=) rs765691244
NM_012388.4(BLOC1S6):c.417G>A (p.Leu139=)
NM_012388.4(BLOC1S6):c.43C>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.45G>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.468G>A (p.Lys156=)
NM_012388.4(BLOC1S6):c.507C>T (p.Ala169=)
NM_012388.4(BLOC1S6):c.51C>T (p.Pro17=)
NM_012388.4(BLOC1S6):c.63G>A (p.Glu21=)
NM_012388.4(BLOC1S6):c.66C>T (p.Ala22=)
NM_012388.4(BLOC1S6):c.69G>C (p.Gly23=)
NM_012388.4(BLOC1S6):c.82+11T>C
NM_012388.4(BLOC1S6):c.82+14G>T
NM_012388.4(BLOC1S6):c.82+9_82+12del
NM_022081.6(HPS4):c.1060_1061delinsAG (p.Ser354=) rs386820399
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) rs773017257
NM_032383.5(HPS3):c.884+25del rs10693502

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