ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 648
Download table as spreadsheet
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_000195.5(HPS1):c.768+64A>G rs2296431 0.67902
NM_000195.5(HPS1):c.937+192T>C rs1061135 0.53604
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_000195.5(HPS1):c.*706C>G rs3830020 0.48408
NM_022081.6(HPS4):c.*1229C>T rs6147576 0.47868
NM_000195.5(HPS1):c.*982T>C rs1739 0.45933
NM_000195.5(HPS1):c.*955A>G rs1737 0.45932
NM_000195.5(HPS1):c.*324T>C rs1061123 0.44036
NM_000195.5(HPS1):c.*272C>T rs1061115 0.43400
NM_000195.5(HPS1):c.*452G>A rs701801 0.39309
NM_022081.6(HPS4):c.*1231C>T rs56271395 0.35531
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_000195.5(HPS1):c.*1167G>A rs1061437 0.35147
NM_000195.5(HPS1):c.*1217T>C rs3830025 0.34581
NM_000195.5(HPS1):c.*1215C>T rs3830024 0.34580
NM_000195.5(HPS1):c.118-54A>T rs2296430 0.33514
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.-51C>A rs1804689 0.27683
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.1599-15A>G rs2296435 0.21496
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_000195.5(HPS1):c.937+88C>T rs34533614 0.13757
NM_000195.5(HPS1):c.399-35G>A rs11591594 0.12488
NM_022081.6(HPS4):c.-530A>G rs3747137 0.11724
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000195.5(HPS1):c.1335+48G>A rs41317034 0.09953
NC_000019.10:g.45181810T>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.*694C>T rs7075480 0.04558
NM_000195.5(HPS1):c.987+13T>C rs12571249 0.04438
NM_000195.5(HPS1):c.*473G>A rs3830019 0.04437
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_000195.5(HPS1):c.-105-9C>T rs2296429 0.01268
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_000195.5(HPS1):c.*460C>T rs114794063 0.01003
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_000195.5(HPS1):c.*916G>A rs114082441 0.00522
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_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000195.5(HPS1):c.*252C>T rs552596275 0.00346
NM_212550.5(BLOC1S3):c.*155_*156insAA rs570559399 0.00320
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_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
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.*1326C>A rs146022441 0.00195
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000195.5(HPS1):c.*719T>C rs557194861 0.00125
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_000195.5(HPS1):c.122C>T (p.Pro41Leu) rs142934882 0.00068
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp) rs145042327 0.00065
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_000195.5(HPS1):c.*943C>T rs558066370 0.00059
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.1897G>A (p.Asp633Asn) rs150740880 0.00049
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_000195.5(HPS1):c.473G>A (p.Arg158His) rs140480324 0.00036
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_032383.5(HPS3):c.*96TC[3] rs1553756780 0.00035
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) rs149563235 0.00034
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe) rs146695034 0.00031
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) rs201076763 0.00030
NM_000195.5(HPS1):c.1940+6G>A rs375927441 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.1136C>T (p.Thr379Met) rs149620802 0.00025
NM_000195.5(HPS1):c.-91T>A rs542654066 0.00024
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_000195.5(HPS1):c.507+13C>T rs371779884 0.00022
NM_000195.5(HPS1):c.938G>A (p.Gly313Asp) rs1450496925 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.2200C>T (p.Arg734Trp) rs752089199 0.00019
NM_000195.5(HPS1):c.483G>T (p.Glu161Asp) rs573247261 0.00017
NM_032383.5(HPS3):c.1769G>A (p.Arg590His) rs145158238 0.00017
NM_000195.5(HPS1):c.1067A>C (p.Asn356Thr) rs374389539 0.00016
NM_000195.5(HPS1):c.1095G>A (p.Val365=) rs560336269 0.00016
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.*1005A>G rs186229582 0.00013
NM_000195.5(HPS1):c.*403G>A rs886046589 0.00013
NM_000195.5(HPS1):c.-28G>A rs186783129 0.00013
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_000195.5(HPS1):c.242A>T (p.Tyr81Phe) rs188320187 0.00010
NM_000195.5(HPS1):c.507+15C>T rs374761960 0.00010
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_000195.5(HPS1):c.*626C>T rs776700327 0.00009
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.1951C>T (p.Arg651Cys) rs375322422 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_000195.5(HPS1):c.778C>T (p.Arg260Trp) rs564590745 0.00008
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
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.760G>A (p.Asp254Asn) rs376078258 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_181507.2(HPS5):c.285-10A>G rs200449378 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.320G>A (p.Arg107Gln) rs538482143 0.00005
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys) rs11189601 0.00005
NM_000195.5(HPS1):c.909A>G (p.Pro303=) rs139169204 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_000195.5(HPS1):c.*589G>A rs540367850 0.00004
NM_000195.5(HPS1):c.*691G>A rs1012331153 0.00004
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_000195.5(HPS1):c.389T>C (p.Ile130Thr) rs367640909 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_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 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.*327G>A rs886046590 0.00003
NM_000195.5(HPS1):c.1239G>T (p.Pro413=) rs777125097 0.00003
NM_000195.5(HPS1):c.1398-8G>A rs375009475 0.00003
NM_000195.5(HPS1):c.1533-6C>T rs751468611 0.00003
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys) rs367656088 0.00003
NM_000195.5(HPS1):c.256-4G>A rs372404024 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.692C>T (p.Pro231Leu) rs773953162 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.1588C>T (p.Arg530Ter) rs755841847 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.*577C>T rs1455446444 0.00002
NM_000195.5(HPS1):c.1050G>T (p.Arg350Ser) rs748998125 0.00002
NM_000195.5(HPS1):c.1667C>T (p.Ala556Val) rs200239872 0.00002
NM_000195.5(HPS1):c.1700C>T (p.Ser567Leu) rs375906039 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.716T>C (p.Leu239Pro) rs281865080 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.*1235G>A rs886046584 0.00001
NM_000195.5(HPS1):c.*451C>G rs1185107542 0.00001
NM_000195.5(HPS1):c.*635T>C rs886046588 0.00001
NM_000195.5(HPS1):c.*639G>T rs1025107350 0.00001
NM_000195.5(HPS1):c.*968G>A rs972778777 0.00001
NM_000195.5(HPS1):c.-219C>G rs574471533 0.00001
NM_000195.5(HPS1):c.1123T>C (p.Trp375Arg) rs541655491 0.00001
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.1294A>T (p.Met432Leu) rs756067445 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1337G>A (p.Ser446Asn) rs1377296947 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.1431G>A (p.Gln477=) rs747509165 0.00001
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp) rs755120094 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.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.1884G>A (p.Val628=) rs752892771 0.00001
NM_000195.5(HPS1):c.1940+2T>C rs972096803 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.2058G>C (p.Gln686His) rs780183454 0.00001
NM_000195.5(HPS1):c.2086C>T (p.Arg696Cys) rs118116760 0.00001
NM_000195.5(HPS1):c.2087G>A (p.Arg696His) rs759163020 0.00001
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg) rs771121322 0.00001
NM_000195.5(HPS1):c.31G>A (p.Ala11Thr) rs770719820 0.00001
NM_000195.5(HPS1):c.329A>T (p.Tyr110Phe) rs749883025 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.399-5C>T rs765780669 0.00001
NM_000195.5(HPS1):c.419C>T (p.Ala140Val) rs1243685743 0.00001
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys) rs727505003 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.565C>T (p.Arg189Trp) rs757374077 0.00001
NM_000195.5(HPS1):c.570C>T (p.His190=) rs1028581867 0.00001
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) rs746626404 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.788G>A (p.Arg263Gln) rs1452163199 0.00001
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter) rs1846158787 0.00001
NM_000195.5(HPS1):c.819C>T (p.Ala273=) rs775779922 0.00001
NM_000195.5(HPS1):c.867+11T>C rs745977366 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.1114C>T (p.Arg372Ter) rs776754431 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.728_729insA (p.Ser244fs) rs760577035 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 10q24.2(chr10:100202251-100203482)
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.*1001G>T rs190211350
NM_000195.5(HPS1):c.*1043C>T rs1844137935
NM_000195.5(HPS1):c.*1085G>A rs563447772
NM_000195.5(HPS1):c.*1212T>A rs557906923
NM_000195.5(HPS1):c.*1215_*1217delinsTCC rs386746903
NM_000195.5(HPS1):c.*1249G>A rs886046583
NM_000195.5(HPS1):c.*766G>T rs886046587
NM_000195.5(HPS1):c.*768A>G rs886046586
NM_000195.5(HPS1):c.*952T>G rs886046585
NM_000195.5(HPS1):c.-153del rs886046593
NM_000195.5(HPS1):c.100G>T (p.Glu34Ter)
NM_000195.5(HPS1):c.1065del (p.Asn356fs)
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
NM_000195.5(HPS1):c.1084del (p.Cys362fs)
NM_000195.5(HPS1):c.1090del (p.Pro363_Leu364insTer)
NM_000195.5(HPS1):c.10G>A (p.Val4Ile)
NM_000195.5(HPS1):c.1101C>G (p.His367Gln)
NM_000195.5(HPS1):c.1107G>A (p.Met369Ile) rs374952573
NM_000195.5(HPS1):c.1118C>A (p.Pro373His) rs945250747
NM_000195.5(HPS1):c.1127A>C (p.Gln376Pro)
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)
NM_000195.5(HPS1):c.1156-8A>C rs1845516768
NM_000195.5(HPS1):c.1159C>T (p.Pro387Ser)
NM_000195.5(HPS1):c.117+1G>A
NM_000195.5(HPS1):c.1172del (p.Leu391fs)
NM_000195.5(HPS1):c.1178T>C (p.Leu393Pro)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1198del (p.Asp400fs)
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)
NM_000195.5(HPS1):c.1239G>A (p.Pro413=) rs777125097
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs) rs1303126934
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)
NM_000195.5(HPS1):c.1335+1G>A
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.1344G>C (p.Trp448Cys)
NM_000195.5(HPS1):c.1363G>T (p.Ala455Ser)
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1384G>A (p.Gly462Arg)
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000195.5(HPS1):c.1398-1G>A
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)
NM_000195.5(HPS1):c.141dup (p.Ser48fs)
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro) rs757853476
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter) rs552340796
NM_000195.5(HPS1):c.1438G>C (p.Ala480Pro)
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
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.1473dup (p.Ser492fs) rs1278834481
NM_000195.5(HPS1):c.1490A>G (p.His497Arg)
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.1519dup (p.Gln507fs)
NM_000195.5(HPS1):c.151_156delinsATCA (p.Leu51fs)
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.1532G>A (p.Arg511Gln)
NM_000195.5(HPS1):c.1533-17C>T rs187227619
NM_000195.5(HPS1):c.1559T>C (p.Phe520Ser)
NM_000195.5(HPS1):c.1567G>C (p.Val523Leu)
NM_000195.5(HPS1):c.1593G>C (p.Met531Ile) rs2136134351
NM_000195.5(HPS1):c.1599-16T>G
NM_000195.5(HPS1):c.159G>T (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1600T>C (p.Tyr534His)
NM_000195.5(HPS1):c.1605AGA[1] (p.Glu536del)
NM_000195.5(HPS1):c.1616C>G (p.Pro539Arg)
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1633A>G (p.Ile545Val)
NM_000195.5(HPS1):c.1646G>A (p.Arg549His) rs753635327
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000195.5(HPS1):c.166A>G (p.Ile56Val)
NM_000195.5(HPS1):c.1690A>G (p.Lys564Glu)
NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu) rs1271147542
NM_000195.5(HPS1):c.1709G>C (p.Gly570Ala) rs1314012716
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg) rs372351461
NM_000195.5(HPS1):c.1718C>T (p.Pro573Leu) rs372351461
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) rs1302271283
NM_000195.5(HPS1):c.1768C>T (p.Arg590Cys)
NM_000195.5(HPS1):c.1769G>A (p.Arg590His)
NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter)
NM_000195.5(HPS1):c.1772G>A (p.Arg591Lys)
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)
NM_000195.5(HPS1):c.1807_1808inv (p.Gln603Trp)
NM_000195.5(HPS1):c.1837del (p.Leu613fs)
NM_000195.5(HPS1):c.1855A>G (p.Met619Val) rs1844649182
NM_000195.5(HPS1):c.1857+1G>A rs2136102397
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) rs1591120765
NM_000195.5(HPS1):c.1900G>T (p.Asp634Tyr) rs1844367598
NM_000195.5(HPS1):c.1921C>G (p.Leu641Val)
NM_000195.5(HPS1):c.1925del (p.Gly642fs) rs2136083690
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys) rs1467653379
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)
NM_000195.5(HPS1):c.1940+4A>G
NM_000195.5(HPS1):c.1940+5C>T
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys) rs1844278117
NM_000195.5(HPS1):c.1970G>A (p.Arg657His)
NM_000195.5(HPS1):c.197C>A (p.Ser66Ter)
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.1A>G (p.Met1Val)
NM_000195.5(HPS1):c.2001_2003delinsCCC (p.Leu668Pro)
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
NM_000195.5(HPS1):c.200A>G (p.Asp67Gly)
NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro) rs1844268357
NM_000195.5(HPS1):c.201C>G (p.Asp67Glu) rs973290077
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)
NM_000195.5(HPS1):c.2030C>G (p.Thr677Ser)
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) rs1591002808
NM_000195.5(HPS1):c.205T>C (p.Tyr69His)
NM_000195.5(HPS1):c.2086C>G (p.Arg696Gly)
NM_000195.5(HPS1):c.2095dup (p.Leu699fs)
NM_000195.5(HPS1):c.221C>T (p.Thr74Met)
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.238del (p.Leu80fs) rs1453977337
NM_000195.5(HPS1):c.23C>A (p.Thr8Asn)
NM_000195.5(HPS1):c.254T>C (p.Leu85Pro)
NM_000195.5(HPS1):c.256-10G>A
NM_000195.5(HPS1):c.256-2A>C
NM_000195.5(HPS1):c.265T>C (p.Cys89Arg)
NM_000195.5(HPS1):c.268C>G (p.Leu90Val) rs1847174036
NM_000195.5(HPS1):c.276T>G (p.Ile92Met)
NM_000195.5(HPS1):c.296C>G (p.Thr99Ser)
NM_000195.5(HPS1):c.298G>A (p.Glu100Lys)
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)
NM_000195.5(HPS1):c.2T>C (p.Met1Thr)
NM_000195.5(HPS1):c.307G>T (p.Gly103Trp) rs771121322
NM_000195.5(HPS1):c.310dup (p.Asp104fs)
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly) rs376557022
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp) rs376557022
NM_000195.5(HPS1):c.321dup (p.Lys108fs)
NM_000195.5(HPS1):c.322A>T (p.Lys108Ter)
NM_000195.5(HPS1):c.331G>A (p.Val111Met)
NM_000195.5(HPS1):c.346T>C (p.Phe116Leu)
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+2T>G
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.399-14G>A rs1260083432
NM_000195.5(HPS1):c.410del (p.Pro137fs)
NM_000195.5(HPS1):c.424C>T (p.Arg142Cys)
NM_000195.5(HPS1):c.425G>A (p.Arg142His)
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.484C>T (p.Gln162Ter)
NM_000195.5(HPS1):c.485A>G (p.Gln162Arg)
NM_000195.5(HPS1):c.486G>T (p.Gln162His)
NM_000195.5(HPS1):c.499G>A (p.Ala167Thr)
NM_000195.5(HPS1):c.502G>A (p.Val168Met)
NM_000195.5(HPS1):c.507+2T>G rs1591109881
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly) rs1591093208
NM_000195.5(HPS1):c.520C>G (p.Leu174Val)
NM_000195.5(HPS1):c.520del (p.Arg173_Leu174insTer)
NM_000195.5(HPS1):c.524T>G (p.Ile175Ser)
NM_000195.5(HPS1):c.533del (p.Gln178fs)
NM_000195.5(HPS1):c.54A>G (p.Thr18=) rs531947687
NM_000195.5(HPS1):c.551_552del (p.Ile184fs) rs1591092841
NM_000195.5(HPS1):c.558_559del (p.Leu187fs)
NM_000195.5(HPS1):c.595_601del (p.Pro199fs)
NM_000195.5(HPS1):c.610G>A (p.Glu204Lys)
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter) rs747607498
NM_000195.5(HPS1):c.614A>G (p.Glu205Gly) rs565505287
NM_000195.5(HPS1):c.624T>G (p.His208Gln)
NM_000195.5(HPS1):c.635T>A (p.Leu212His)
NM_000195.5(HPS1):c.637G>A (p.Val213Met)
NM_000195.5(HPS1):c.640C>T (p.His214Tyr)
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)
NM_000195.5(HPS1):c.668+1G>A
NM_000195.5(HPS1):c.668+3G>A
NM_000195.5(HPS1):c.669-1G>C
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000195.5(HPS1):c.689G>A (p.Arg230His) rs377752969
NM_000195.5(HPS1):c.697G>A (p.Asp233Asn)
NM_000195.5(HPS1):c.697G>C (p.Asp233His)
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu) rs1450596874
NM_000195.5(HPS1):c.706G>C (p.Ala236Pro)
NM_000195.5(HPS1):c.709C>G (p.Leu237Val)
NM_000195.5(HPS1):c.718C>G (p.Leu240Val)
NM_000195.5(HPS1):c.721del (p.Val241fs)
NM_000195.5(HPS1):c.723T>A (p.Val241=) rs1846304734
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
NM_000195.5(HPS1):c.769-14_834del
NM_000195.5(HPS1):c.76C>T (p.Leu26Phe)
NM_000195.5(HPS1):c.770C>G (p.Pro257Arg)
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.802A>G (p.Ile268Val)
NM_000195.5(HPS1):c.806C>T (p.Pro269Leu)
NM_000195.5(HPS1):c.807del (p.Val270fs)
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.813G>C (p.Gln271His)
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer) rs1938751649
NM_000195.5(HPS1):c.82C>G (p.Leu28Val)
NM_000195.5(HPS1):c.835A>G (p.Thr279Ala)
NM_000195.5(HPS1):c.836C>T (p.Thr279Met)
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln) rs374679558
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)
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.847_848delinsTA (p.Gly283Ter)
NM_000195.5(HPS1):c.850G>A (p.Gly284Arg) rs1846147269
NM_000195.5(HPS1):c.852del (p.Ser285fs) rs757883936
NM_000195.5(HPS1):c.854G>C (p.Ser285Thr)
NM_000195.5(HPS1):c.860C>T (p.Ala287Val) rs1846143474
NM_000195.5(HPS1):c.866C>T (p.Thr289Met)
NM_000195.5(HPS1):c.868-15_877dup
NM_000195.5(HPS1):c.875_878del (p.Asp292fs) rs1846105381
NM_000195.5(HPS1):c.904_917dup (p.Pro307fs)
NM_000195.5(HPS1):c.908C>A (p.Pro303Gln)
NM_000195.5(HPS1):c.917C>T (p.Ser306Phe)
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) rs748939090
NM_000195.5(HPS1):c.937+1G>A
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser) rs962689701
NM_000195.5(HPS1):c.938-1G>A
NM_000195.5(HPS1):c.944C>A (p.Thr315Asn)
NM_000195.5(HPS1):c.944C>T (p.Thr315Ile)
NM_000195.5(HPS1):c.946A>T (p.Ile316Phe)
NM_000195.5(HPS1):c.955G>C (p.Glu319Gln)
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys) rs551074257
NM_000195.5(HPS1):c.962G>A (p.Gly321Asp)
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.97_100del (p.Ser33fs) rs2136327710
NM_000195.5(HPS1):c.987+1G>A
NM_000195.5(HPS1):c.988-44_1023delinsT rs1591055649
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_001987.5(ETV6):c.1235G>T (p.Gly412Val)
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.455C>G (p.Ser152Ter)
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_181507.2(HPS5):c.739dup (p.Glu247fs)
NM_181507.2(HPS5):c.82dup (p.Leu28fs)
NM_201280.3(BLOC1S5):c.345del (p.Val116fs) rs1763106978
NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter) rs567410388
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup) rs1599746194

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.