ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome

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ClinVar version:
Total variants: 345
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_022081.6(HPS4):c.*1613C>A rs3752589 0.88461
NM_022081.6(HPS4):c.-296T>C rs5761557 0.88308
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_022081.6(HPS4):c.-253C>T rs3747134 0.81120
NM_022081.5(HPS4):c.-662G>T rs968425 0.80578
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_022081.6(HPS4):c.*1231C>T rs56271395 0.35531
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_022081.6(HPS4):c.*1229C>T rs6147576 0.33676
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_022081.6(HPS4):c.-530A>G rs3747137 0.11724
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751 0.06757
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_001271769.2(AP3B1):c.*588A>G rs114954951 0.02413
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
NM_022081.5(HPS4):c.-660C>T rs34019374 0.01443
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_022081.6(HPS4):c.*1225T>C rs886057311 0.00821
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
NM_022081.6(HPS4):c.*1762G>A rs139974836 0.00680
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168 0.00411
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_212550.5(BLOC1S3):c.*155_*156insAA rs570559399 0.00320
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_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_000195.5(HPS1):c.1532+5G>A rs199874645 0.00273
NM_022081.6(HPS4):c.*1589C>A rs117397456 0.00238
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132 0.00237
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_032383.5(HPS3):c.*96TC[3] rs1553756780 0.00063
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_032383.5(HPS3):c.884+7T>C rs202215373 0.00058
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00054
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870 0.00049
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly) rs141366997 0.00043
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 0.00039
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933 0.00039
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_000195.5(HPS1):c.1887C>T (p.Pro629=) rs142347792 0.00036
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) rs149563235 0.00034
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) rs201076763 0.00030
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu) rs371551313 0.00026
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_000195.5(HPS1):c.1801C>T (p.Leu601=) rs368146160 0.00020
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802 0.00019
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp) rs752089199 0.00019
NM_032383.5(HPS3):c.1769G>A (p.Arg590His) rs145158238 0.00017
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087 0.00015
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809 0.00014
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_032383.5(HPS3):c.694A>G (p.Ile232Val) rs199722122 0.00014
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) rs768146409 0.00012
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_000195.5(HPS1):c.1448G>A (p.Arg483Gln) rs199996900 0.00009
NM_000195.5(HPS1):c.1766C>T (p.Ala589Val) rs528827909 0.00009
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304 0.00009
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp) rs3830014 0.00009
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) rs180729981 0.00009
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_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_032383.5(HPS3):c.2018C>T (p.Ser673Leu) rs141023798 0.00007
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000195.5(HPS1):c.447C>T (p.Phe149=) rs564896584 0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_000195.5(HPS1):c.970C>G (p.Pro324Ala) rs1055799878 0.00006
NM_032383.5(HPS3):c.1224G>A (p.Pro408=) rs752942876 0.00006
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) rs750402363 0.00006
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln) rs538482143 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
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_000195.5(HPS1):c.9C>T (p.Cys3=) rs750909242 0.00004
NM_003664.5(AP3B1):c.388C>T (p.Leu130=) rs138774723 0.00004
NM_032383.5(HPS3):c.905C>T (p.Ser302Leu) rs781327575 0.00004
NM_032383.5(HPS3):c.957C>G (p.Pro319=) rs751233801 0.00004
NM_000195.5(HPS1):c.1398-8G>A rs375009475 0.00003
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys) rs367656088 0.00003
NM_000195.5(HPS1):c.387T>C (p.Leu129=) rs777005528 0.00003
NM_000195.5(HPS1):c.468C>T (p.Tyr156=) rs772192145 0.00003
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000195.5(HPS1):c.924C>T (p.Gly308=) rs747955942 0.00003
NM_000195.5(HPS1):c.960G>A (p.Gly320=) rs894529827 0.00003
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200 0.00003
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) rs147593958 0.00003
NM_000195.5(HPS1):c.1667C>T (p.Ala556Val) rs200239872 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
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_000195.5(HPS1):c.303C>T (p.Ser101=) rs769932435 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly) rs979661361 0.00002
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364 0.00002
NM_032383.5(HPS3):c.1342T>C (p.Leu448=) rs778753554 0.00002
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509 0.00002
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr) rs776346762 0.00002
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 0.00002
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_032383.5(HPS3):c.2667C>T (p.Ala889=) rs761310586 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_032383.5(HPS3):c.701G>A (p.Arg234Gln) rs748904322 0.00002
NM_032383.5(HPS3):c.864C>T (p.His288=) rs146928432 0.00002
NM_181507.2(HPS5):c.2718-12A>G rs759757206 0.00002
NM_181507.2(HPS5):c.543del (p.Gln181fs) rs755827664 0.00002
NM_000195.5(HPS1):c.1245C>T (p.Pro415=) rs879797527 0.00001
NM_000195.5(HPS1):c.1285C>T (p.Arg429Cys) rs770233681 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1431G>A (p.Gln477=) rs747509165 0.00001
NM_000195.5(HPS1):c.1645C>T (p.Arg549Cys) rs747984964 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val) rs139951191 0.00001
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=) rs764612179 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys) rs121908385 0.00001
NM_000195.5(HPS1):c.2037G>A (p.Leu679=) rs773611107 0.00001
NM_000195.5(HPS1):c.2087G>A (p.Arg696His) rs759163020 0.00001
NM_000195.5(HPS1):c.31G>A (p.Ala11Thr) rs770719820 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys) rs727505003 0.00001
NM_000195.5(HPS1):c.741C>T (p.Ser247=) rs772319786 0.00001
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu) rs745797275 0.00001
NM_000195.5(HPS1):c.819C>T (p.Ala273=) rs775779922 0.00001
NM_000195.5(HPS1):c.973A>G (p.Met325Val) rs1406192587 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_022081.6(HPS4):c.765C>T (p.Ala255=) rs886057318 0.00001
NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg) rs772897521 0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu) rs1478574193 0.00001
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys) rs771822133 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.1951A>G (p.Met651Val) rs753269782 0.00001
NM_032383.5(HPS3):c.2181C>T (p.Thr727=) rs573058813 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2482-2A>G rs397507168 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2796+2T>C rs1476066527 0.00001
NM_032383.5(HPS3):c.305C>A (p.Ser102Tyr) rs1189649144 0.00001
NM_032383.5(HPS3):c.687C>A (p.Asn229Lys) rs750964494 0.00001
NM_032383.5(HPS3):c.906G>A (p.Ser302=) rs1157223288 0.00001
NM_032383.5(HPS3):c.970G>A (p.Gly324Ser) rs370943042 0.00001
NM_181507.2(HPS5):c.825-14del rs886048082 0.00001
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*828dup rs35907111
NM_000195.4(HPS1):c.1602_1605delCCTA
NM_000195.5(HPS1):c.*1215_*1217delinsTCC rs386746903
NM_000195.5(HPS1):c.-153del rs886046593
NM_000195.5(HPS1):c.1107G>A (p.Met369Ile) rs374952573
NM_000195.5(HPS1):c.1156-8A>C rs1845516768
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter) rs748888649
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.159G>T (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1646G>A (p.Arg549His) rs753635327
NM_000195.5(HPS1):c.1709G>C (p.Gly570Ala) rs1314012716
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) rs1302271283
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
NM_000195.5(HPS1):c.1855A>G (p.Met619Val) rs1844649182
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys) rs1467653379
NM_000195.5(HPS1):c.198G>C (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) rs1591002808
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.238del (p.Leu80fs) rs1453977337
NM_000195.5(HPS1):c.268C>G (p.Leu90Val) rs1847174036
NM_000195.5(HPS1):c.307G>T (p.Gly103Trp) rs771121322
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly) rs376557022
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly) rs1591093208
NM_000195.5(HPS1):c.614A>G (p.Glu205Gly) rs565505287
NM_000195.5(HPS1):c.723T>A (p.Val241=) rs1846304734
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg) rs11592273
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg) rs11592273
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.850G>A (p.Gly284Arg) rs1846147269
NM_000195.5(HPS1):c.852del (p.Ser285fs) rs757883936
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) rs748939090
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
NM_003664.5(AP3B1):c.*552TAAA[1] rs886060767
NM_003664.5(AP3B1):c.*69dup rs886060769
NM_003664.5(AP3B1):c.1651-2A>T
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_012388.4(BLOC1S6):c.*274TG[1] rs766946085
NM_012388.4(BLOC1S6):c.*2818ACAA[4] rs376870196
NM_012388.4(BLOC1S6):c.*2818ACAA[6] rs376870196
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_022081.6(HPS4):c.*1024_*1028del rs886057313
NM_022081.6(HPS4):c.*1191TG[16] rs134978
NM_022081.6(HPS4):c.*1191TG[17] rs134978
NM_022081.6(HPS4):c.*1191TG[20] rs134978
NM_022081.6(HPS4):c.*1207_*1227delinsC rs886057310
NM_022081.6(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_022081.6(HPS4):c.*1223_*1238del rs886057303
NM_022081.6(HPS4):c.*1227_*1236del rs755364858
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_022081.6(HPS4):c.*1229CG[5] rs10573454
NM_022081.6(HPS4):c.*1229CG[6] rs10573454
NM_022081.6(HPS4):c.*1229CG[7] rs10573454
NM_022081.6(HPS4):c.*1229CG[8] rs10573454
NM_022081.6(HPS4):c.*1229_*1237delinsTGT rs886057304
NM_022081.6(HPS4):c.*1229_*1237delinsTGTGT rs886057304
NM_022081.6(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) rs150216540
NM_022081.6(HPS4):c.1713+1G>A rs2146534178
NM_022081.6(HPS4):c.276+5G>A rs1602079277
NM_022081.6(HPS4):c.803+1G>A
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
NM_024747.6(HPS6):c.1556del (p.Gly519fs)
NM_024747.6(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.6(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.6(HPS6):c.1649del (p.Gly550fs) rs1590263820
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
NM_024747.6(HPS6):c.229_232del (p.Ser77fs) rs2136333814
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.6(HPS6):c.368del (p.Gly123fs)
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs) rs752399257
NM_024747.6(HPS6):c.706_707del (p.Ser236fs) rs756471925
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter) rs2136334244
NM_032122.5(DTNBP1):c.*151_*152dup rs555440397
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs) rs752074481
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)
NM_032122.5(DTNBP1):c.489-12_489-8del rs199770715
NM_032122.5(DTNBP1):c.489-8del rs199770715
NM_032122.5(DTNBP1):c.489-8dup rs199770715
NM_032122.5(DTNBP1):c.668-14del rs886061225
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.5(HPS3):c.*129_*130insGC rs886058082
NM_032383.5(HPS3):c.*96_*97insATCACA rs374839757
NM_032383.5(HPS3):c.*97CA[16] rs113015797
NM_032383.5(HPS3):c.*97CA[17] rs113015797
NM_032383.5(HPS3):c.*97CA[20] rs113015797
NM_032383.5(HPS3):c.*97CA[21] rs113015797
NM_032383.5(HPS3):c.*97CA[22] rs113015797
NM_032383.5(HPS3):c.*97CA[23] rs113015797
NM_032383.5(HPS3):c.*97CA[25] rs113015797
NM_032383.5(HPS3):c.*97_*98insTCACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCTCACAC rs72453449
NM_032383.5(HPS3):c.1128A>G (p.Ala376=) rs1722738295
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) rs1553750097
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.199C>T (p.Leu67=) rs546531255
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2370C>G (p.Leu790=) rs746304657
NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg) rs1724018415
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) rs773017257
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
NM_032383.5(HPS3):c.2887+18_2887+19dup rs397710976
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032383.5(HPS3):c.2932A>G (p.Met978Val) rs1206629874
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032383.5(HPS3):c.884+11_884+12insT rs886058076
NM_032383.5(HPS3):c.884+21_884+25dup rs10693502
NM_032383.5(HPS3):c.884+22_884+25dup rs10693502
NM_032383.5(HPS3):c.884+24_884+25dup rs10693502
NM_032383.5(HPS3):c.884+25del rs10693502
NM_181507.2(HPS5):c.*1003_*1004del rs886048070
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter) rs779921624
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del) rs886048077
NM_181507.2(HPS5):c.2837+15del rs886048076
NM_181507.2(HPS5):c.2837+1G>A
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_181507.2(HPS5):c.478-2A>G
NM_201280.3(BLOC1S5):c.345del (p.Val116fs) rs1763106978
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup) rs1599746194

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