ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 491
Download table as spreadsheet
HGVS dbSNP
NM_000096.3(CP):c.*1081T>A rs188137938
NM_000096.3(CP):c.*1157C>T rs11537809
NM_000096.3(CP):c.*137C>T rs34228141
NM_000096.3(CP):c.*343A>G rs886058085
NM_000096.3(CP):c.*373C>G rs370247691
NM_000096.3(CP):c.*509A>C rs13098532
NM_000096.3(CP):c.*583T>C rs886058084
NM_000096.3(CP):c.*768T>C rs35805816
NM_000096.3(CP):c.*769G>A rs1053669
NM_000096.3(CP):c.*828dupA rs35907111
NM_000096.3(CP):c.*879A>C rs144029944
NM_000096.3(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.3(CP):c.3182-4A>G rs34272112
NM_000195.3(HPS1):c.1189delC (p.Gln397Serfs) rs281865084
NM_000195.4(HPS1):c.*1005A>G rs186229582
NM_000195.4(HPS1):c.*1085G>A rs563447772
NM_000195.4(HPS1):c.*1167G>A rs1061437
NM_000195.4(HPS1):c.*1215C>T rs3830024
NM_000195.4(HPS1):c.*1215_*1217delCCTinsTCC rs386746903
NM_000195.4(HPS1):c.*1217T>C rs3830025
NM_000195.4(HPS1):c.*1235G>A rs886046584
NM_000195.4(HPS1):c.*1249G>A rs886046583
NM_000195.4(HPS1):c.*12C>T rs112544050
NM_000195.4(HPS1):c.*1326C>A rs146022441
NM_000195.4(HPS1):c.*272C>T rs1061115
NM_000195.4(HPS1):c.*324T>C rs1061123
NM_000195.4(HPS1):c.*327G>A rs886046590
NM_000195.4(HPS1):c.*403G>A rs886046589
NM_000195.4(HPS1):c.*452G>A rs701801
NM_000195.4(HPS1):c.*460C>T rs114794063
NM_000195.4(HPS1):c.*473G>A rs3830019
NM_000195.4(HPS1):c.*589G>A rs540367850
NM_000195.4(HPS1):c.*626C>T rs776700327
NM_000195.4(HPS1):c.*635T>C rs886046588
NM_000195.4(HPS1):c.*694C>T rs7075480
NM_000195.4(HPS1):c.*706C>G rs3830020
NM_000195.4(HPS1):c.*736C>T rs149708847
NM_000195.4(HPS1):c.*766G>T rs886046587
NM_000195.4(HPS1):c.*768A>G rs886046586
NM_000195.4(HPS1):c.*916G>A rs114082441
NM_000195.4(HPS1):c.*943C>T rs558066370
NM_000195.4(HPS1):c.*952T>G rs886046585
NM_000195.4(HPS1):c.*955A>G rs1737
NM_000195.4(HPS1):c.*982T>C rs1739
NM_000195.4(HPS1):c.-105-9C>T rs2296429
NM_000195.4(HPS1):c.-153delG rs886046593
NM_000195.4(HPS1):c.-28G>A rs186783129
NM_000195.4(HPS1):c.-51C>A rs1804689
NM_000195.4(HPS1):c.-91T>A rs542654066
NM_000195.4(HPS1):c.11T>C (p.Val4Ala) rs58548334
NM_000195.4(HPS1):c.122C>T (p.Pro41Leu) rs142934882
NM_000195.4(HPS1):c.1286G>A (p.Arg429His) rs201728087
NM_000195.4(HPS1):c.1397+7G>C rs2296432
NM_000195.4(HPS1):c.1397+8G>T rs2296433
NM_000195.4(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.4(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.4(HPS1):c.1599-15A>G rs2296435
NM_000195.4(HPS1):c.159G>A (p.Pro53=) rs78504928
NM_000195.4(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.4(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000195.4(HPS1):c.1767G>A (p.Ala589=) rs79218830
NM_000195.4(HPS1):c.179C>T (p.Thr60Met) rs200004304
NM_000195.4(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.4(HPS1):c.1887C>T (p.Pro629=) rs142347792
NM_000195.4(HPS1):c.1915G>A (p.Gly639Ser) rs116698870
NM_000195.4(HPS1):c.1928G>A (p.Gly643Glu) rs148225281
NM_000195.4(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.4(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.4(HPS1):c.2058G>C (p.Gln686His) rs780183454
NM_000195.4(HPS1):c.2065C>T (p.Arg689Trp) rs3830014
NM_000195.4(HPS1):c.255+9A>G rs78927693
NM_000195.4(HPS1):c.256-4G>A rs372404024
NM_000195.4(HPS1):c.27G>C (p.Glu9Asp) rs7914192
NM_000195.4(HPS1):c.297C>T (p.Thr99=) rs11539873
NM_000195.4(HPS1):c.307G>A (p.Gly103Arg) rs771121322
NM_000195.4(HPS1):c.366G>A (p.Leu122=) rs147269809
NM_000195.4(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000195.4(HPS1):c.565C>T (p.Arg189Trp) rs757374077
NM_000195.4(HPS1):c.602G>A (p.Arg201Gln) rs746626404
NM_000195.4(HPS1):c.636C>T (p.Leu212=) rs1801287
NM_000195.4(HPS1):c.692C>T (p.Pro231Leu) rs773953162
NM_000195.4(HPS1):c.695C>T (p.Ala232Val) rs764420988
NM_000195.4(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.4(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.4(HPS1):c.952C>G (p.Leu318Val) rs201808262
NM_000195.4(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_000195.4(HPS1):c.987+13T>C rs12571249
NM_003664.4(AP3B1):c.*101T>C rs766029582
NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.*141T>C rs753283084
NM_003664.4(AP3B1):c.*379A>G rs115124715
NM_003664.4(AP3B1):c.*447C>T rs886060768
NM_003664.4(AP3B1):c.*507G>A rs865863660
NM_003664.4(AP3B1):c.*556_*559delTAAA rs886060767
NM_003664.4(AP3B1):c.*588A>G rs114954951
NM_003664.4(AP3B1):c.*69dupT rs886060769
NM_003664.4(AP3B1):c.-115G>A rs886060776
NM_003664.4(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) rs142025324
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1168-9C>T rs367648410
NM_003664.4(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589
NM_003664.4(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.4(AP3B1):c.1364-11A>G rs759174401
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
NM_003664.4(AP3B1):c.1392T>G (p.Val464=) rs886060774
NM_003664.4(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.4(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572
NM_003664.4(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.1969-10G>A rs77009095
NM_003664.4(AP3B1):c.196A>G (p.Ile66Val) rs779404585
NM_003664.4(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.4(AP3B1):c.2012C>T (p.Ser671Phe) rs886060773
NM_003664.4(AP3B1):c.2016T>C (p.Ala672=) rs42360
NM_003664.4(AP3B1):c.2093G>A (p.Ser698Asn) rs886060772
NM_003664.4(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178
NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050
NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) rs199599147
NM_003664.4(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037
NM_003664.4(AP3B1):c.2405A>G (p.Glu802Gly) rs886060771
NM_003664.4(AP3B1):c.2409_2411delGAA (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749
NM_003664.4(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.4(AP3B1):c.280-6dupT rs5868908
NM_003664.4(AP3B1):c.2810-4C>T rs115340604
NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_003664.4(AP3B1):c.2906A>G (p.Asp969Gly) rs886060770
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003664.4(AP3B1):c.3023_3025delCTG (p.Ala1008del) rs111935323
NM_003664.4(AP3B1):c.303C>T (p.Tyr101=) rs115747826
NM_003664.4(AP3B1):c.3131+5G>T rs191616060
NM_003664.4(AP3B1):c.3207G>A (p.Gln1069=) rs34089426
NM_003664.4(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.4(AP3B1):c.388C>T (p.Leu130=) rs138774723
NM_003664.4(AP3B1):c.519A>G (p.Ala173=) rs747459337
NM_003664.4(AP3B1):c.537-9A>G rs372285421
NM_003664.4(AP3B1):c.557A>C (p.Glu186Ala) rs778281326
NM_003664.4(AP3B1):c.687A>G (p.Leu229=) rs35496909
NM_003664.4(AP3B1):c.720G>A (p.Gly240=) rs886060775
NM_003664.4(AP3B1):c.822C>T (p.Tyr274=) rs112652327
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001
NM_003664.4(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_012388.3(BLOC1S6):c.*1124G>T rs111954968
NM_012388.3(BLOC1S6):c.*1139G>A rs886051208
NM_012388.3(BLOC1S6):c.*1446G>A rs552878862
NM_012388.3(BLOC1S6):c.*165T>C rs181609658
NM_012388.3(BLOC1S6):c.*1706G>A rs7181436
NM_012388.3(BLOC1S6):c.*171A>T rs60561729
NM_012388.3(BLOC1S6):c.*188T>C rs58509170
NM_012388.3(BLOC1S6):c.*2007A>T rs183928015
NM_012388.3(BLOC1S6):c.*2022G>C rs188876635
NM_012388.3(BLOC1S6):c.*2043G>A rs146657000
NM_012388.3(BLOC1S6):c.*2209T>C rs7183382
NM_012388.3(BLOC1S6):c.*2295C>T rs140243429
NM_012388.3(BLOC1S6):c.*2404C>T rs13376
NM_012388.3(BLOC1S6):c.*2509T>C rs564382292
NM_012388.3(BLOC1S6):c.*2586T>C rs886051209
NM_012388.3(BLOC1S6):c.*276_*277del rs766946085
NM_012388.3(BLOC1S6):c.*2815A>C rs188301800
NM_012388.3(BLOC1S6):c.*2834_*2837del rs376870196
NM_012388.3(BLOC1S6):c.*2834_*2837dup rs376870196
NM_012388.3(BLOC1S6):c.*508G>C rs142031361
NM_012388.3(BLOC1S6):c.*589T>G rs753529567
NM_012388.3(BLOC1S6):c.*669C>T rs764795185
NM_012388.3(BLOC1S6):c.*797T>A rs11638237
NM_012388.3(BLOC1S6):c.*865G>A rs886051207
NM_012388.3(BLOC1S6):c.-118C>T rs536657988
NM_012388.3(BLOC1S6):c.-120C>T rs2304898
NM_012388.3(BLOC1S6):c.-134G>A rs141234222
NM_012388.3(BLOC1S6):c.-135C>T rs373895163
NM_012388.3(BLOC1S6):c.-153G>A rs115857479
NM_012388.3(BLOC1S6):c.-52C>T rs370519880
NM_012388.3(BLOC1S6):c.-78C>A rs758362537
NM_012388.3(BLOC1S6):c.432A>G (p.Gln144=) rs886051205
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_022081.5(HPS4):c.*1024_*1028delATTGT rs886057313
NM_022081.5(HPS4):c.*1120C>T rs886057312
NM_022081.5(HPS4):c.*1223_*1228delTGTGTG rs134978
NM_022081.5(HPS4):c.*1223_*1238delTGTGTGCGCGCGCGCG rs886057303
NM_022081.5(HPS4):c.*1225T>C rs886057311
NM_022081.5(HPS4):c.*1225_*1228delTGTG rs134978
NM_022081.5(HPS4):c.*1227T>C rs7293228
NM_022081.5(HPS4):c.*1227_*1228dupTG rs134978
NM_022081.5(HPS4):c.*1227_*1236delTGCGCGCGCG rs755364858
NM_022081.5(HPS4):c.*1229C>T rs6147576
NM_022081.5(HPS4):c.*1229_*1237delCGCGCGCGCinsTGT rs886057304
NM_022081.5(HPS4):c.*1229_*1237delCGCGCGCGCinsTGTGT rs886057304
NM_022081.5(HPS4):c.*1231C>T rs56271395
NM_022081.5(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.5(HPS4):c.*1237C>T rs886057305
NM_022081.5(HPS4):c.*1237_*1246delCGCGCGCGCG rs10573454
NM_022081.5(HPS4):c.*1239_*1246delCGCGCGCG rs10573454
NM_022081.5(HPS4):c.*1241_*1246delCGCGCG rs10573454
NM_022081.5(HPS4):c.*1243_*1246delCGCG rs10573454
NM_022081.5(HPS4):c.*1245_*1246delCG rs10573454
NM_022081.5(HPS4):c.*1250C>T rs7291576
NM_022081.5(HPS4):c.*1253G>A rs534586940
NM_022081.5(HPS4):c.*1256C>T rs886057299
NM_022081.5(HPS4):c.*1359A>T rs886057298
NM_022081.5(HPS4):c.*1576C>T rs886057297
NM_022081.5(HPS4):c.*1589C>A rs117397456
NM_022081.5(HPS4):c.*1594G>C rs886057296
NM_022081.5(HPS4):c.*1613C>A rs3752589
NM_022081.5(HPS4):c.*1687A>G rs3752588
NM_022081.5(HPS4):c.*1752C>G rs886057295
NM_022081.5(HPS4):c.*1762G>A rs139974836
NM_022081.5(HPS4):c.*197G>T rs550753111
NM_022081.5(HPS4):c.*369C>T rs886057316
NM_022081.5(HPS4):c.*391G>A rs886057315
NM_022081.5(HPS4):c.*515G>C rs886057314
NM_022081.5(HPS4):c.*751G>A rs190837977
NM_022081.5(HPS4):c.-116C>T rs886057321
NM_022081.5(HPS4):c.-185A>G rs188205202
NM_022081.5(HPS4):c.-253C>T rs3747134
NM_022081.5(HPS4):c.-296T>C rs5761557
NM_022081.5(HPS4):c.-395A>C rs147631281
NM_022081.5(HPS4):c.-42A>G rs369803062
NM_022081.5(HPS4):c.-479+5G>A rs886057322
NM_022081.5(HPS4):c.-523G>T rs886057323
NM_022081.5(HPS4):c.-530A>G rs3747137
NM_022081.5(HPS4):c.-554C>T rs115916720
NM_022081.5(HPS4):c.-585T>G rs187762406
NM_022081.5(HPS4):c.-622G>C rs886057324
NM_022081.5(HPS4):c.-634C>T rs886057325
NM_022081.5(HPS4):c.-660C>T rs34019374
NM_022081.5(HPS4):c.-661G>T rs753668169
NM_022081.5(HPS4):c.-662G>T rs968425
NM_022081.5(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.5(HPS4):c.1061C>G (p.Ser354Cys) rs116769827
NM_022081.5(HPS4):c.1192A>C (p.Arg398=) rs375655372
NM_022081.5(HPS4):c.1232G>A (p.Ser411Asn) rs201043011
NM_022081.5(HPS4):c.1327C>G (p.Leu443Val) rs2014410
NM_022081.5(HPS4):c.1479T>A (p.Asp493Glu) rs777570870
NM_022081.5(HPS4):c.1535C>T (p.Ser512Leu) rs150216540
NM_022081.5(HPS4):c.1543T>C (p.Cys515Arg) rs148134252
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_022081.5(HPS4):c.1641C>T (p.Cys547=) rs199740072
NM_022081.5(HPS4):c.1654G>A (p.Val552Met) rs5752330
NM_022081.5(HPS4):c.1680G>A (p.Pro560=) rs527653764
NM_022081.5(HPS4):c.1692C>T (p.Asp564=) rs759632995
NM_022081.5(HPS4):c.1700C>T (p.Ala567Val) rs140234219
NM_022081.5(HPS4):c.1747G>A (p.Glu583Lys) rs145481980
NM_022081.5(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.5(HPS4):c.1816C>T (p.His606Tyr) rs1894706
NM_022081.5(HPS4):c.1857G>A (p.Pro619=) rs373421312
NM_022081.5(HPS4):c.1875G>T (p.Gln625His) rs1894704
NM_022081.5(HPS4):c.1899C>T (p.Val633=) rs35993959
NM_022081.5(HPS4):c.1959T>C (p.Asn653=) rs202120615
NM_022081.5(HPS4):c.2079C>T (p.Ser693=) rs138189133
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.5(HPS4):c.373C>G (p.Leu125Val) rs180729981
NM_022081.5(HPS4):c.558G>A (p.Ser186=) rs13054747
NM_022081.5(HPS4):c.608C>T (p.Thr203Ile) rs886057319
NM_022081.5(HPS4):c.617C>T (p.Pro206Leu) rs746492833
NM_022081.5(HPS4):c.686A>G (p.Glu229Gly) rs713998
NM_022081.5(HPS4):c.687G>A (p.Glu229=) rs758547221
NM_022081.5(HPS4):c.696G>A (p.Pro232=) rs3747132
NM_022081.5(HPS4):c.706+15G>T rs762647750
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168
NM_022081.5(HPS4):c.751A>T (p.Thr251Ser) rs34962745
NM_022081.5(HPS4):c.765C>T (p.Ala255=) rs886057318
NM_022081.5(HPS4):c.81G>A (p.Lys27=) rs763708665
NM_022081.5(HPS4):c.877C>G (p.Leu293Val) rs886057317
NM_022081.5(HPS4):c.922A>G (p.Thr308Ala) rs150057646
NM_022081.5(HPS4):c.931C>A (p.Pro311Thr) rs140732502
NM_022081.5(HPS4):c.958G>C (p.Asp320His) rs143965829
NM_024747.5(HPS6):c.*178T>G rs3816
NM_024747.5(HPS6):c.1039G>A (p.Val347Ile) rs139517839
NM_024747.5(HPS6):c.105T>C (p.Arg35=) rs573488604
NM_024747.5(HPS6):c.112C>G (p.Pro38Ala) rs746813506
NM_024747.5(HPS6):c.1181T>C (p.Val394Ala) rs146521433
NM_024747.5(HPS6):c.1201G>A (p.Asp401Asn) rs886046651
NM_024747.5(HPS6):c.138G>A (p.Leu46=) rs886046648
NM_024747.5(HPS6):c.1606A>G (p.Arg536Gly) rs757589760
NM_024747.5(HPS6):c.1764G>A (p.Gln588=) rs145597717
NM_024747.5(HPS6):c.1779G>A (p.Pro593=) rs77529785
NM_024747.5(HPS6):c.194C>G (p.Ala65Gly) rs886046649
NM_024747.5(HPS6):c.2181A>G (p.Ala727=) rs199518658
NM_024747.5(HPS6):c.2231G>T (p.Gly744Val) rs770148492
NM_024747.5(HPS6):c.2307G>A (p.Pro769=) rs553794194
NM_024747.5(HPS6):c.238dup (p.Asp80Glyfs) rs281865108
NM_024747.5(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.5(HPS6):c.337C>T (p.Arg113Trp) rs371307947
NM_024747.5(HPS6):c.398C>T (p.Ala133Val) rs199816481
NM_024747.5(HPS6):c.516G>A (p.Gly172=) rs3737243
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.5(HPS6):c.727C>A (p.Pro243Thr) rs767667481
NM_024747.5(HPS6):c.99A>G (p.Arg33=) rs139591041
NM_032122.4(DTNBP1):c.*105A>G rs1047631
NM_032122.4(DTNBP1):c.*138A>G rs886061222
NM_032122.4(DTNBP1):c.*151_*152dupAA rs555440397
NM_032122.4(DTNBP1):c.*2T>C rs201409652
NM_032122.4(DTNBP1):c.-109G>A rs559661829
NM_032122.4(DTNBP1):c.-142G>A rs530331862
NM_032122.4(DTNBP1):c.-159G>A rs886061227
NM_032122.4(DTNBP1):c.-18A>G rs11558324
NM_032122.4(DTNBP1):c.1000A>C (p.Thr334Pro) rs886061223
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340Profs)
NM_032122.4(DTNBP1):c.1019_1020delAG (p.Glu340Glyfs) rs752074481
NM_032122.4(DTNBP1):c.255G>T (p.Ala85=) rs200096549
NM_032122.4(DTNBP1):c.276A>G (p.Thr92=) rs148092520
NM_032122.4(DTNBP1):c.355+10A>G rs368923800
NM_032122.4(DTNBP1):c.356-7C>T rs3829893
NM_032122.4(DTNBP1):c.438A>G (p.Arg146=) rs369015562
NM_032122.4(DTNBP1):c.487A>C (p.Arg163=) rs146546977
NM_032122.4(DTNBP1):c.489-12_489-8delTTTTT rs199770715
NM_032122.4(DTNBP1):c.489-8delT rs199770715
NM_032122.4(DTNBP1):c.489-8dupT rs199770715
NM_032122.4(DTNBP1):c.532G>T (p.Ala178Ser) rs75704383
NM_032122.4(DTNBP1):c.667+2C>T rs61739410
NM_032122.4(DTNBP1):c.667+3G>A rs755341865
NM_032122.4(DTNBP1):c.668-14delT rs886061225
NM_032122.4(DTNBP1):c.668-8A>G rs757305528
NM_032122.4(DTNBP1):c.741G>A (p.Ser247=) rs886061224
NM_032122.4(DTNBP1):c.812-13C>T rs377254012
NM_032122.4(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454
NM_032122.4(DTNBP1):c.874A>G (p.Arg292Gly) rs73369534
NM_032122.4(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982
NM_032383.4(HPS3):c.*123_*134dup rs113015797
NM_032383.4(HPS3):c.*127_*134dup rs113015797
NM_032383.4(HPS3):c.*128A>G rs73019023
NM_032383.4(HPS3):c.*129_*130insGC rs886058082
NM_032383.4(HPS3):c.*129_*134del rs113015797
NM_032383.4(HPS3):c.*129_*134dup rs113015797
NM_032383.4(HPS3):c.*131_*134del rs113015797
NM_032383.4(HPS3):c.*131_*134dup rs113015797
NM_032383.4(HPS3):c.*133_*134dup rs113015797
NM_032383.4(HPS3):c.*135T>C rs375383865
NM_032383.4(HPS3):c.*170C>T rs182666670
NM_032383.4(HPS3):c.*172G>A rs34511277
NM_032383.4(HPS3):c.*239G>A rs886058083
NM_032383.4(HPS3):c.*920T>C rs561191589
NM_032383.4(HPS3):c.*96T>A rs879086473
NM_032383.4(HPS3):c.*96_*97insATCACA rs374839757
NM_032383.4(HPS3):c.*97_*98insTCACAC rs72453449
NM_032383.4(HPS3):c.*97_*98insTCACACAC rs72453449
NM_032383.4(HPS3):c.*97_*98insTCACACACAC rs72453449
NM_032383.4(HPS3):c.*97_*98insTCTC rs1553756780
NM_032383.4(HPS3):c.*97_*98insTCTCACAC rs72453449
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.4(HPS3):c.-43C>A rs375227018
NM_032383.4(HPS3):c.-70T>C rs13089410
NM_032383.4(HPS3):c.1136C>T (p.Thr379Met) rs149620802
NM_032383.4(HPS3):c.1152C>T (p.His384=) rs113381494
NM_032383.4(HPS3):c.1153G>A (p.Val385Ile) rs749726836
NM_032383.4(HPS3):c.1196G>T (p.Ser399Ile) rs886058078
NM_032383.4(HPS3):c.1208C>T (p.Ala403Val) rs773950483
NM_032383.4(HPS3):c.1366A>G (p.Ile456Val) rs149640235
NM_032383.4(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509
NM_032383.4(HPS3):c.1479G>A (p.Thr493=) rs34197730
NM_032383.4(HPS3):c.1494G>A (p.Gln498=) rs6440589
NM_032383.4(HPS3):c.158A>G (p.Gln53Arg) rs199663930
NM_032383.4(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.4(HPS3):c.1768C>T (p.Arg590Cys) rs199882259
NM_032383.4(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.4(HPS3):c.196C>T (p.Arg66Cys) rs529838933
NM_032383.4(HPS3):c.2055G>A (p.Leu685=) rs140443498
NM_032383.4(HPS3):c.2124C>T (p.Gly708=) rs138987987
NM_032383.4(HPS3):c.2215G>A (p.Gly739Arg) rs78336249
NM_032383.4(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.4(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.4(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.4(HPS3):c.2692C>T (p.Arg898Cys) rs543058717
NM_032383.4(HPS3):c.2699G>A (p.Arg900His) rs202157837
NM_032383.4(HPS3):c.2887+19dup rs397710976
NM_032383.4(HPS3):c.51C>T (p.Pro17=) rs141883346
NM_032383.4(HPS3):c.571G>A (p.Val191Ile) rs779612018
NM_032383.4(HPS3):c.573T>C (p.Val191=) rs746331416
NM_032383.4(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.4(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.4(HPS3):c.884+11_884+12insT rs886058076
NM_032383.4(HPS3):c.884+21_884+25dup rs10693502
NM_032383.4(HPS3):c.884+22_884+25dup rs10693502
NM_032383.4(HPS3):c.884+24_884+25dup rs10693502
NM_032383.4(HPS3):c.884+25del rs10693502
NM_032383.4(HPS3):c.970+7A>G rs114029765
NM_032383.4(HPS3):c.981A>G (p.Thr327=) rs11718908
NM_152841.2(HPS4):c.*1207_*1227del21insC rs886057310
NM_152841.2(HPS4):c.*1207_*1227del21insCGC rs886057310
NM_181507.1(HPS5):c.*1003_*1004delAA rs886048070
NM_181507.1(HPS5):c.*1023T>G rs886048069
NM_181507.1(HPS5):c.*1068T>A rs112456564
NM_181507.1(HPS5):c.*182C>T rs886048074
NM_181507.1(HPS5):c.*299C>T rs12419588
NM_181507.1(HPS5):c.*300T>C rs12416821
NM_181507.1(HPS5):c.*362G>A rs148862838
NM_181507.1(HPS5):c.*443T>A rs74602396
NM_181507.1(HPS5):c.*464C>A rs1046611
NM_181507.1(HPS5):c.*475C>T rs1046615
NM_181507.1(HPS5):c.*655A>C rs886048073
NM_181507.1(HPS5):c.*688A>G rs145507598
NM_181507.1(HPS5):c.*702A>T rs79086536
NM_181507.1(HPS5):c.*70C>T rs371535842
NM_181507.1(HPS5):c.*804C>T rs1046628
NM_181507.1(HPS5):c.*812A>C rs755078355
NM_181507.1(HPS5):c.*956T>G rs886048072
NM_181507.1(HPS5):c.*960T>A rs886048071
NM_181507.1(HPS5):c.-142C>T rs4150528
NM_181507.1(HPS5):c.-197C>T rs886048085
NM_181507.1(HPS5):c.-217G>A rs761585857
NM_181507.1(HPS5):c.-250G>T rs4150529
NM_181507.1(HPS5):c.-251C>A rs4150530
NM_181507.1(HPS5):c.-263A>G rs886048086
NM_181507.1(HPS5):c.-64A>G rs886048084
NM_181507.1(HPS5):c.-91C>G rs4150527
NM_181507.1(HPS5):c.1075C>T (p.Arg359Cys) rs143073506
NM_181507.1(HPS5):c.1076G>A (p.Arg359His) rs774619545
NM_181507.1(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.1(HPS5):c.1165-15C>A rs7128146
NM_181507.1(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.1(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.1(HPS5):c.1423delC (p.Leu475Serfs) rs766602179
NM_181507.1(HPS5):c.1475T>A (p.Leu492Gln) rs190883305
NM_181507.1(HPS5):c.1479A>G (p.Pro493=) rs886048081
NM_181507.1(HPS5):c.1496C>T (p.Ser499Leu) rs756408229
NM_181507.1(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.1(HPS5):c.1510+3G>A rs886048080
NM_181507.1(HPS5):c.1549A>C (p.Lys517Gln) rs770838422
NM_181507.1(HPS5):c.1609G>T (p.Val537Leu) rs149677540
NM_181507.1(HPS5):c.1635-4C>G rs79009787
NM_181507.1(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.1(HPS5):c.1785-13C>T rs73430857
NM_181507.1(HPS5):c.1785-9C>A rs886048079
NM_181507.1(HPS5):c.1837C>A (p.Leu613Ile) rs190221223
NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) rs143204089
NM_181507.1(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.1(HPS5):c.2200C>T (p.Arg734Trp) rs752089199
NM_181507.1(HPS5):c.2224_2226delACA (p.Thr742del) rs886048077
NM_181507.1(HPS5):c.2247A>G (p.Val749=) rs139004989
NM_181507.1(HPS5):c.241G>A (p.Ala81Thr) rs147053126
NM_181507.1(HPS5):c.2441-8T>C rs144196437
NM_181507.1(HPS5):c.2461G>T (p.Val821Leu) rs373228021
NM_181507.1(HPS5):c.2521G>T (p.Val841Phe) rs142090060
NM_181507.1(HPS5):c.2537C>T (p.Pro846Leu) rs144875223
NM_181507.1(HPS5):c.2562-14G>C rs199999276
NM_181507.1(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.1(HPS5):c.2837+15delC rs886048076
NM_181507.1(HPS5):c.2838-13T>C rs377293025
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184
NM_181507.1(HPS5):c.3058+9A>G rs2049129
NM_181507.1(HPS5):c.3076G>A (p.Val1026Met) rs369368194
NM_181507.1(HPS5):c.309A>G (p.Glu103=) rs77722090
NM_181507.1(HPS5):c.3214G>A (p.Ala1072Thr) rs886048075
NM_181507.1(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179
NM_181507.1(HPS5):c.3259C>T (p.Leu1087=) rs868410563
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.1(HPS5):c.3297C>T (p.Cys1099=) rs139039126
NM_181507.1(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_181507.1(HPS5):c.822C>A (p.Leu274=) rs1140047
NM_181507.1(HPS5):c.825-14delT rs886048082
NM_181507.1(HPS5):c.986-5C>T rs201439984
NM_212550.4(BLOC1S3):c.*1086G>A rs116251719
NM_212550.4(BLOC1S3):c.*1253C>T rs576936281
NM_212550.4(BLOC1S3):c.*1286T>C rs79968982
NM_212550.4(BLOC1S3):c.*1471C>T rs73939649
NM_212550.4(BLOC1S3):c.*155_*156insAA rs570559399
NM_212550.4(BLOC1S3):c.*157A>G rs886054492
NM_212550.4(BLOC1S3):c.*1700G>A rs76151738
NM_212550.4(BLOC1S3):c.*1746C>G rs74798348
NM_212550.4(BLOC1S3):c.*1869G>A rs184044224
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751
NM_212550.4(BLOC1S3):c.*285T>A rs6509200
NM_212550.4(BLOC1S3):c.*31T>C rs777965410
NM_212550.4(BLOC1S3):c.*331T>A rs747825460
NM_212550.4(BLOC1S3):c.*389G>A rs117001334
NM_212550.4(BLOC1S3):c.*426C>G rs142584236
NM_212550.4(BLOC1S3):c.*465A>T rs115683085
NM_212550.4(BLOC1S3):c.*553A>T rs541332923
NM_212550.4(BLOC1S3):c.*69G>A rs886054491
NM_212550.4(BLOC1S3):c.*946C>T rs111903160
NM_212550.4(BLOC1S3):c.-10+4C>G rs116105443
NM_212550.4(BLOC1S3):c.-42C>T rs543407501
NM_212550.4(BLOC1S3):c.-57A>T rs116448245
NM_212550.4(BLOC1S3):c.-71G>A rs59215448
NM_212550.4(BLOC1S3):c.-73A>C rs8104024
NM_212550.4(BLOC1S3):c.-7C>G rs200767686
NM_212550.4(BLOC1S3):c.144C>A (p.Arg48=) rs182286598
NM_212550.4(BLOC1S3):c.17G>A (p.Arg6His) rs145609489
NM_212550.4(BLOC1S3):c.205C>T (p.Pro69Ser) rs776029125
NM_212550.4(BLOC1S3):c.234G>A (p.Arg78=) rs886054489
NM_212550.4(BLOC1S3):c.270G>A (p.Ala90=) rs758506
NM_212550.4(BLOC1S3):c.311C>G (p.Pro104Arg) rs886054490
NM_212550.4(BLOC1S3):c.339G>A (p.Leu113=) rs546645333
NM_212550.4(BLOC1S3):c.366C>T (p.His122=) rs571269735
NM_212550.4(BLOC1S3):c.478G>T (p.Val160Leu) rs201502372
NM_212550.4(BLOC1S3):c.507G>A (p.Ala169=) rs756965386
NM_212550.4(BLOC1S3):c.6G>T (p.Ala2=) rs746634818

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