ClinVar Miner

List of variants reported as uncertain significance for Hermansky-Pudlak syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 442
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HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.*1229C>T rs6147576 0.47868
NM_022081.6(HPS4):c.*1231C>T rs56271395 0.35531
NM_022081.6(HPS4):c.*1233C>T rs770072939 0.16771
NM_022081.6(HPS4):c.*1227T>C rs7293228 0.01801
NM_022081.5(HPS4):c.-660C>T rs34019374 0.01443
NM_022081.6(HPS4):c.*1235C>T rs1235169942 0.01229
NM_032383.5(HPS3):c.*135T>C rs375383865 0.01150
NM_022081.6(HPS4):c.*1528T>G rs7292764 0.00979
NM_022081.6(HPS4):c.*477C>T rs76496430 0.00851
NM_022081.6(HPS4):c.*1207T>C rs534698074 0.00842
NM_022081.6(HPS4):c.*1225T>C rs886057311 0.00821
NM_022081.6(HPS4):c.*1223T>C rs1367343497 0.00724
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_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168 0.00411
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_022081.6(HPS4):c.*1237C>T rs886057305 0.00384
NM_000195.5(HPS1):c.*252C>T rs552596275 0.00346
NM_212550.5(BLOC1S3):c.*155_*156insAA rs570559399 0.00320
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu) rs149677540 0.00276
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_181507.2(HPS5):c.-75A>G rs193106100 0.00192
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) rs147435410 0.00184
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_000096.4(CP):c.*1081T>A rs188137938 0.00174
NM_181507.2(HPS5):c.309A>G (p.Glu103=) rs77722090 0.00163
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_032383.5(HPS3):c.*98A>T rs113951847 0.00139
NM_000195.5(HPS1):c.*719T>C rs557194861 0.00125
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_181507.2(HPS5):c.2562-14G>C rs199999276 0.00107
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 0.00102
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_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_022081.6(HPS4):c.888C>T (p.Asn296=) rs138343171 0.00086
NM_022081.5(HPS4):c.-628C>G rs56821996 0.00078
NM_022081.6(HPS4):c.*769G>A rs187297219 0.00071
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.*96T>A rs879086473 0.00060
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_000195.5(HPS1):c.*943C>T rs558066370 0.00059
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) rs199965734 0.00058
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870 0.00049
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His) rs147430035 0.00047
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_032383.5(HPS3):c.*95A>C rs1013031553 0.00045
NM_022081.6(HPS4):c.618G>A (p.Pro206=) rs139165558 0.00043
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_022081.6(HPS4):c.704A>G (p.His235Arg) rs150166679 0.00040
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.592G>A (p.Val198Ile) rs144990171 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_181507.2(HPS5):c.986-5C>T rs201439984 0.00036
NM_022081.6(HPS4):c.*1236G>A rs1356149759 0.00035
NM_032383.5(HPS3):c.*96TC[3] rs1553756780 0.00035
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) rs149692177 0.00034
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile) rs146303784 0.00033
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987 0.00033
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_181507.2(HPS5):c.2721A>G (p.Ser907=) rs139795577 0.00032
NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys) rs145481980 0.00030
NM_000096.4(CP):c.*373C>G rs370247691 0.00029
NM_024747.6(HPS6):c.1363T>C (p.Leu455=) rs144777687 0.00029
NM_181507.2(HPS5):c.1692T>C (p.Pro564=) rs150590027 0.00028
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_024747.6(HPS6):c.-5G>A rs376684120 0.00027
NM_181507.2(HPS5):c.*812A>C rs755078355 0.00027
NM_022081.6(HPS4):c.931C>A (p.Pro311Thr) rs140732502 0.00026
NM_032383.5(HPS3):c.1330C>A (p.His444Asn) rs138303522 0.00026
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu) rs371551313 0.00026
NM_022081.6(HPS4):c.-42A>G rs369803062 0.00025
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802 0.00025
NM_000195.5(HPS1):c.-91T>A rs542654066 0.00024
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=) rs142938290 0.00024
NM_024747.6(HPS6):c.1035G>A (p.Arg345=) rs374860183 0.00024
NM_022081.6(HPS4):c.1192A>C (p.Arg398=) rs375655372 0.00023
NM_024747.6(HPS6):c.1039G>A (p.Val347Ile) rs139517839 0.00023
NM_181507.2(HPS5):c.*95C>A rs776484868 0.00023
NM_000195.5(HPS1):c.507+13C>T rs371779884 0.00022
NM_022081.5(HPS4):c.-622G>C rs886057324 0.00022
NM_022081.6(HPS4):c.-568T>A rs1023210861 0.00021
NM_022081.6(HPS4):c.133-6C>T rs571184796 0.00021
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu) rs139107954 0.00020
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys) rs141068948 0.00020
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala) rs144257610 0.00019
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp) rs752089199 0.00019
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=) rs139039126 0.00019
NM_003664.5(AP3B1):c.*482C>T rs538570213 0.00017
NM_022081.6(HPS4):c.1680G>A (p.Pro560=) rs527653764 0.00017
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp) rs376165374 0.00016
NM_181507.2(HPS5):c.*182C>T rs886048074 0.00016
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087 0.00015
NM_022081.6(HPS4):c.1959T>C (p.Asn653=) rs202120615 0.00015
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn) rs142793392 0.00015
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809 0.00014
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 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.-28G>A rs186783129 0.00013
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_022081.6(HPS4):c.*1209T>C rs749313648 0.00013
NM_022081.6(HPS4):c.706+8G>C rs3747131 0.00013
NM_024747.6(HPS6):c.2181A>G (p.Ala727=) rs199518658 0.00013
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu) rs779631326 0.00013
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_024747.6(HPS6):c.112C>G (p.Pro38Ala) rs746813506 0.00012
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr) rs147413884 0.00012
NM_000096.4(CP):c.*572A>G rs561191589 0.00011
NM_000195.5(HPS1):c.*403G>A rs886046589 0.00011
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749 0.00011
NM_022081.6(HPS4):c.*2171C>T rs1013987506 0.00011
NM_022081.6(HPS4):c.-479+5G>A rs886057322 0.00011
NM_022081.6(HPS4):c.553C>T (p.Arg185Cys) rs369104384 0.00011
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) rs150057646 0.00011
NM_003664.5(AP3B1):c.*101T>C rs766029582 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu) rs143902143 0.00010
NM_024747.6(HPS6):c.727C>A (p.Pro243Thr) rs767667481 0.00010
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) rs781373708 0.00010
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) rs577273287 0.00010
NM_181507.2(HPS5):c.-82T>G rs1452519401 0.00010
NM_181507.2(HPS5):c.1012A>C (p.Asn338His) rs144134556 0.00010
NM_000195.5(HPS1):c.*626C>T rs776700327 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_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_022081.6(HPS4):c.*469C>T rs959233919 0.00009
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) rs180729981 0.00009
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly) rs147557809 0.00009
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu) rs140810728 0.00009
NM_181507.2(HPS5):c.2247A>G (p.Val749=) rs139004989 0.00009
NM_032383.5(HPS3):c.338T>G (p.Val113Gly) rs763529688 0.00008
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr) rs371346921 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_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) rs138751237 0.00007
NM_022081.6(HPS4):c.*423G>A rs552928725 0.00007
NM_024747.6(HPS6):c.634G>A (p.Val212Met) rs375789510 0.00007
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_003664.5(AP3B1):c.*507G>A rs865863660 0.00006
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_022081.6(HPS4):c.1014C>T (p.Pro338=) rs188300485 0.00006
NM_024747.6(HPS6):c.1152T>C (p.Phe384=) rs200681093 0.00006
NM_024747.6(HPS6):c.277G>T (p.Val93Leu) rs185571437 0.00006
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) rs750402363 0.00006
NM_181507.2(HPS5):c.2521G>T (p.Val841Phe) rs142090060 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_000096.4(CP):c.*912C>G rs149920453 0.00005
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys) rs11189601 0.00005
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn) rs201043011 0.00005
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_024747.6(HPS6):c.2231G>T (p.Gly744Val) rs770148492 0.00005
NM_032383.5(HPS3):c.-50C>T rs750659280 0.00005
NM_032383.5(HPS3):c.677A>G (p.His226Arg) rs188661079 0.00005
NM_181507.2(HPS5):c.*157G>A rs916119305 0.00005
NM_181507.2(HPS5):c.1075C>T (p.Arg359Cys) rs143073506 0.00005
NM_181507.2(HPS5):c.2461G>T (p.Val821Leu) rs373228021 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.204C>T (p.Thr68=) rs149759513 0.00004
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val) rs779404585 0.00004
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg) rs764312417 0.00004
NM_003664.5(AP3B1):c.388C>T (p.Leu130=) rs138774723 0.00004
NM_022081.6(HPS4):c.*1359A>T rs886057298 0.00004
NM_022081.6(HPS4):c.*1576C>T rs886057297 0.00004
NM_022081.6(HPS4):c.*842G>A rs887874663 0.00004
NM_022081.6(HPS4):c.*946G>A rs1014910744 0.00004
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile) rs202222123 0.00004
NM_022081.6(HPS4):c.570C>T (p.Leu190=) rs201820144 0.00004
NM_022081.6(HPS4):c.680C>T (p.Thr227Met) rs201806802 0.00004
NM_024747.6(HPS6):c.1606A>G (p.Arg536Gly) rs757589760 0.00004
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro) rs752370839 0.00004
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp) rs371986139 0.00004
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp) rs754189788 0.00004
NM_181507.2(HPS5):c.535G>A (p.Val179Ile) rs373277149 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.256-4G>A rs372404024 0.00003
NM_000195.5(HPS1):c.468C>T (p.Tyr156=) rs772192145 0.00003
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu) rs773953162 0.00003
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) rs148160411 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_022081.6(HPS4):c.*1594G>C rs886057296 0.00003
NM_022081.6(HPS4):c.*197G>T rs550753111 0.00003
NM_022081.6(HPS4):c.*369C>T rs886057316 0.00003
NM_022081.6(HPS4):c.38C>T (p.Ser13Leu) rs778872709 0.00003
NM_022081.6(HPS4):c.617C>T (p.Pro206Leu) rs746492833 0.00003
NM_024747.6(HPS6):c.1181T>C (p.Val394Ala) rs146521433 0.00003
NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp) rs781537152 0.00003
NM_024747.6(HPS6):c.2112C>T (p.Leu704=) rs764640708 0.00003
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259 0.00003
NM_181507.2(HPS5):c.-64A>G rs886048084 0.00003
NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu) rs756408229 0.00003
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile) rs139349345 0.00003
NM_000195.5(HPS1):c.*577C>T rs1455446444 0.00002
NM_000195.5(HPS1):c.1896C>T (p.Ser632=) rs760508807 0.00002
NM_022081.6(HPS4):c.*1256C>T rs886057299 0.00002
NM_022081.6(HPS4):c.*1691G>A rs1405392401 0.00002
NM_022081.6(HPS4):c.*228A>C rs182700538 0.00002
NM_022081.6(HPS4):c.1455G>A (p.Thr485=) rs756215705 0.00002
NM_022081.6(HPS4):c.1641C>T (p.Cys547=) rs199740072 0.00002
NM_022081.6(HPS4):c.437T>C (p.Ile146Thr) rs549798245 0.00002
NM_022081.6(HPS4):c.877C>G (p.Leu293Val) rs886057317 0.00002
NM_024747.6(HPS6):c.2045G>A (p.Arg682His) rs778873202 0.00002
NM_032383.5(HPS3):c.1125G>A (p.Gln375=) rs367816094 0.00002
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836 0.00002
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509 0.00002
NM_032383.5(HPS3):c.1509+5T>C rs200117898 0.00002
NM_181507.2(HPS5):c.1076G>A (p.Arg359His) rs774619545 0.00002
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu) rs747733616 0.00002
NM_000096.4(CP):c.*343A>G rs886058085 0.00001
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.1447C>T (p.Arg483Trp) rs755120094 0.00001
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=) rs764612179 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.307G>A (p.Gly103Arg) rs771121322 0.00001
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp) rs757374077 0.00001
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) rs746626404 0.00001
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.1364-11A>G rs759174401 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 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_022081.6(HPS4):c.*391G>A rs886057315 0.00001
NM_022081.6(HPS4):c.-18A>G rs1159855728 0.00001
NM_022081.6(HPS4):c.-523G>T rs886057323 0.00001
NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu) rs777570870 0.00001
NM_022081.6(HPS4):c.1692C>T (p.Asp564=) rs759632995 0.00001
NM_022081.6(HPS4):c.1758G>A (p.Leu586=) rs1356334936 0.00001
NM_022081.6(HPS4):c.411G>A (p.Thr137=) rs375462083 0.00001
NM_022081.6(HPS4):c.637G>A (p.Val213Ile) rs766791829 0.00001
NM_022081.6(HPS4):c.687G>A (p.Glu229=) rs758547221 0.00001
NM_022081.6(HPS4):c.765C>T (p.Ala255=) rs886057318 0.00001
NM_022081.6(HPS4):c.81G>A (p.Lys27=) rs763708665 0.00001
NM_022081.6(HPS4):c.930T>C (p.Asp310=) rs1210344296 0.00001
NM_022081.6(HPS4):c.958G>C (p.Asp320His) rs143965829 0.00001
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala) rs755069670 0.00001
NM_024747.6(HPS6):c.1810C>G (p.Leu604Val) rs762013198 0.00001
NM_024747.6(HPS6):c.2166C>T (p.Phe722=) rs746069907 0.00001
NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr) rs367872565 0.00001
NM_024747.6(HPS6):c.2307G>A (p.Pro769=) rs553794194 0.00001
NM_024747.6(HPS6):c.2323C>G (p.Leu775Val) rs4917959 0.00001
NM_024747.6(HPS6):c.303C>T (p.Ala101=) rs952447952 0.00001
NM_024747.6(HPS6):c.831C>G (p.Pro277=) rs1368416172 0.00001
NM_032383.5(HPS3):c.*239G>A rs886058083 0.00001
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys) rs771822133 0.00001
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078 0.00001
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483 0.00001
NM_032383.5(HPS3):c.1785A>G (p.Val595=) rs150262900 0.00001
NM_032383.5(HPS3):c.2078A>G (p.His693Arg) rs759772353 0.00001
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837 0.00001
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) rs779612018 0.00001
NM_032383.5(HPS3):c.573T>C (p.Val191=) rs746331416 0.00001
NM_032383.5(HPS3):c.938A>G (p.His313Arg) rs910569690 0.00001
NM_181507.1(HPS5):c.-263A>G rs886048086 0.00001
NM_181507.2(HPS5):c.*1023T>G rs886048069 0.00001
NM_181507.2(HPS5):c.*276T>G rs146958457 0.00001
NM_181507.2(HPS5):c.*469A>G rs1858594870 0.00001
NM_181507.2(HPS5):c.*839T>C rs537810532 0.00001
NM_181507.2(HPS5):c.-195A>G rs533200717 0.00001
NM_181507.2(HPS5):c.-197C>T rs886048085 0.00001
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly) rs747748271 0.00001
NM_181507.2(HPS5):c.1475T>A (p.Leu492Gln) rs190883305 0.00001
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val) rs370396275 0.00001
NM_181507.2(HPS5):c.1803T>C (p.Thr601=) rs762327635 0.00001
NM_181507.2(HPS5):c.1837C>A (p.Leu613Ile) rs190221223 0.00001
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg) rs763599072 0.00001
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp) rs775281184 0.00001
NM_181507.2(HPS5):c.2838-13T>C rs377293025 0.00001
NM_181507.2(HPS5):c.3076G>A (p.Val1026Met) rs369368194 0.00001
NM_181507.2(HPS5):c.3214G>A (p.Ala1072Thr) rs886048075 0.00001
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val) rs773390398 0.00001
NM_181507.2(HPS5):c.3259C>T (p.Leu1087=) rs868410563 0.00001
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln) rs974587263 0.00001
NM_181507.2(HPS5):c.825-14del rs886048082 0.00001
NM_000096.4(CP):c.*1007T>A rs36120450
NM_000096.4(CP):c.*373C>T rs370247691
NM_000096.4(CP):c.*536G>C rs1725167347
NM_000096.4(CP):c.*583T>C rs886058084
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.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys) rs1844278117
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
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.*552TAAA[1] rs886060767
NM_003664.5(AP3B1):c.*69dup rs886060769
NM_003664.5(AP3B1):c.-115G>A rs886060776
NM_003664.5(AP3B1):c.-83G>C rs774869942
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile) rs757985695
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val) rs1743584840
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=) rs954170484
NM_003664.5(AP3B1):c.1392T>G (p.Val464=) rs886060774
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn) rs1752586022
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe) rs886060773
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn) rs886060772
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) rs532221135
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly) rs886060771
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly) rs886060770
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) rs1397315776
NM_003664.5(AP3B1):c.720G>A (p.Gly240=) rs886060775
NM_003664.5(AP3B1):c.786+6T>A rs1332793203
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys) rs1744368521
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_012388.4(BLOC1S6):c.*274TG[1] rs766946085
NM_012388.4(BLOC1S6):c.*2818ACAA[4] rs376870196
NM_022081.5(HPS4):c.-634C>T rs886057325
NM_022081.6(HPS4):c.*1024_*1028del rs886057313
NM_022081.6(HPS4):c.*1120C>T rs886057312
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[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.*1752C>G rs886057295
NM_022081.6(HPS4):c.*333C>T rs2085445155
NM_022081.6(HPS4):c.*515G>C rs886057314
NM_022081.6(HPS4):c.-116C>T rs886057321
NM_022081.6(HPS4):c.-281A>G rs1028325475
NM_022081.6(HPS4):c.-312C>T rs2091338704
NM_022081.6(HPS4):c.-317G>A rs2091338920
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr) rs2091003499
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) rs150216540
NM_022081.6(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile) rs886057319
NM_022081.6(HPS4):c.706+10G>A rs2088578226
NM_022081.6(HPS4):c.706+15G>T rs762647750
NM_022081.6(HPS4):c.727G>A (p.Val243Ile) rs749572804
NM_024747.6(HPS6):c.1127G>A (p.Arg376His) rs1270858817
NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn) rs886046651
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val) rs201468546
NM_024747.6(HPS6):c.138G>A (p.Leu46=) rs886046648
NM_024747.6(HPS6):c.1679G>T (p.Gly560Val) rs765206943
NM_024747.6(HPS6):c.1692C>A (p.Pro564=) rs147449083
NM_024747.6(HPS6):c.194C>G (p.Ala65Gly) rs886046649
NM_024747.6(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.6(HPS6):c.732A>G (p.Gly244=) rs756521666
NM_032122.5(DTNBP1):c.*151_*152dup rs555440397
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.*138A>T rs1049481742
NM_032383.5(HPS3):c.*207C>T rs1725097839
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.-43C>A rs375227018
NM_032383.5(HPS3):c.10C>T (p.Leu4=) rs1343390851
NM_032383.5(HPS3):c.1200G>C (p.Ala400=) rs377368442
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys) rs143804526
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2887+8G>T rs781312506
NM_032383.5(HPS3):c.323T>C (p.Met108Thr) rs1722344814
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser) rs1722360673
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
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.963C>T (p.Tyr321=) rs1722440534
NM_181507.1(HPS5):c.-251C>T rs4150530
NM_181507.2(HPS5):c.*1003_*1004del rs886048070
NM_181507.2(HPS5):c.*1201A>G rs1858510966
NM_181507.2(HPS5):c.*655A>C rs886048073
NM_181507.2(HPS5):c.*956T>G rs886048072
NM_181507.2(HPS5):c.*960T>A rs886048071
NM_181507.2(HPS5):c.-217G>A rs761585857
NM_181507.2(HPS5):c.1032C>T (p.His344=) rs1385130088
NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.2(HPS5):c.1479A>G (p.Pro493=) rs886048081
NM_181507.2(HPS5):c.1510+3G>A rs886048080
NM_181507.2(HPS5):c.1549A>C (p.Lys517Gln) rs770838422
NM_181507.2(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.2(HPS5):c.1785-9C>A rs886048079
NM_181507.2(HPS5):c.2058A>G (p.Glu686=) rs1860442520
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del) rs886048077
NM_181507.2(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.2(HPS5):c.2837+15del rs886048076
NM_181507.2(HPS5):c.885C>T (p.Leu295=) rs369851648

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