ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome without pulmonary fibrosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 280
Download table as spreadsheet
HGVS dbSNP
11p15.1 deletion
HPS3, 89-BP INS
NM_000096.4(CP):c.*1007T>A
NM_000096.4(CP):c.*1081T>A rs188137938
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*259C>T
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*373C>T
NM_000096.4(CP):c.*474T>C
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*536G>C
NM_000096.4(CP):c.*572A>G rs561191589
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*769G>A rs1053669
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.*912C>G rs149920453
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.1558del (p.Glu520fs) rs1131692146
NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) rs281865103
NM_007216.4(HPS5):c.2282del (p.Leu761fs) rs281865105
NM_007216.4(HPS5):c.2406_2407AG[1] (p.Glu803fs) rs1131692151
NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) rs397507169
NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) rs886041723
NM_007216.4(HPS5):c.2754_2756del (p.Leu919del) rs753928208
NM_007216.4(HPS5):c.476_480del (p.Thr159fs) rs1131692147
NM_007216.4(HPS5):c.537dup (p.Lys180fs) rs281865101
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.1060C>T (p.His354Tyr) rs149692177
NM_024747.5(HPS6):c.1065dup (p.Leu356fs) rs1564899492
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.1234C>T (p.Gln412Ter) rs281865112
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.1693T>G (p.Phe565Val) rs1554903728
NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.5(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
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.1865_1866del (p.Leu622fs) rs281865114
NM_024747.5(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.5(HPS6):c.194C>G (p.Ala65Gly) rs886046649
NM_024747.5(HPS6):c.19_20delCT
NM_024747.5(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333
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.223C>T (p.Gln75Ter) rs281865107
NM_024747.5(HPS6):c.2307G>A (p.Pro769=) rs553794194
NM_024747.5(HPS6):c.238dup (p.Asp80fs) 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.444C>G (p.Ala148=) rs533784966
NM_024747.5(HPS6):c.541A>G (p.Thr181Ala) rs144257610
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.5(HPS6):c.698T>G (p.Leu233Arg) rs36078476
NM_024747.5(HPS6):c.727C>A (p.Pro243Thr) rs767667481
NM_024747.5(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.5(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_024747.6(HPS6):c.-5G>A
NM_024747.6(HPS6):c.1035G>A (p.Arg345=)
NM_024747.6(HPS6):c.1127G>A (p.Arg376His)
NM_024747.6(HPS6):c.1152T>C (p.Phe384=)
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val)
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys)
NM_024747.6(HPS6):c.1363T>C (p.Leu455=)
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala)
NM_024747.6(HPS6):c.1679G>T (p.Gly560Val)
NM_024747.6(HPS6):c.1692C>A (p.Pro564=)
NM_024747.6(HPS6):c.1692C>T (p.Pro564=)
NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp)
NM_024747.6(HPS6):c.1810C>G (p.Leu604Val)
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp)
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
NM_024747.6(HPS6):c.2045G>A (p.Arg682His)
NM_024747.6(HPS6):c.2112C>T (p.Leu704=)
NM_024747.6(HPS6):c.2166C>T (p.Phe722=)
NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr)
NM_024747.6(HPS6):c.2323C>G (p.Leu775Val)
NM_024747.6(HPS6):c.277G>T (p.Val93Leu)
NM_024747.6(HPS6):c.303C>T (p.Ala101=)
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243
NM_024747.6(HPS6):c.634G>A (p.Val212Met)
NM_024747.6(HPS6):c.732A>G (p.Gly244=)
NM_024747.6(HPS6):c.831C>G (p.Pro277=)
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041
NM_032383.5(HPS3):c.*128A>G rs73019023
NM_032383.5(HPS3):c.*135T>C rs375383865
NM_032383.5(HPS3):c.*138A>T
NM_032383.5(HPS3):c.*170C>T rs182666670
NM_032383.5(HPS3):c.*172G>A rs34511277
NM_032383.5(HPS3):c.*207C>T
NM_032383.5(HPS3):c.*239G>A rs886058083
NM_032383.5(HPS3):c.*95A>C
NM_032383.5(HPS3):c.*96T>A rs879086473
NM_032383.5(HPS3):c.*98A>T
NM_032383.5(HPS3):c.-43C>A rs375227018
NM_032383.5(HPS3):c.-50C>T
NM_032383.5(HPS3):c.-70T>C rs13089410
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys)
NM_032383.5(HPS3):c.10C>T (p.Leu4=)
NM_032383.5(HPS3):c.1125G>A (p.Gln375=)
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836
NM_032383.5(HPS3):c.1163+1G>A rs201227603
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078
NM_032383.5(HPS3):c.1200G>C (p.Ala400=)
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483
NM_032383.5(HPS3):c.1228A>G (p.Met410Val)
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu)
NM_032383.5(HPS3):c.1330C>A (p.His444Asn)
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu)
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589
NM_032383.5(HPS3):c.1509+5T>C
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs)
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
NM_032383.5(HPS3):c.1785A>G (p.Val595=)
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly)
NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter)
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys)
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933
NM_032383.5(HPS3):c.2482-2A>G rs397507168
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile)
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837
NM_032383.5(HPS3):c.2737_2738GA[1] (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2887+8G>T
NM_032383.5(HPS3):c.2888-1612G>A rs281865096
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)
NM_032383.5(HPS3):c.323T>C (p.Met108Thr)
NM_032383.5(HPS3):c.338T>G (p.Val113Gly)
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu)
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu)
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser)
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) rs779612018
NM_032383.5(HPS3):c.573T>C (p.Val191=) rs746331416
NM_032383.5(HPS3):c.592G>A (p.Val198Ile)
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro)
NM_032383.5(HPS3):c.677A>G (p.His226Arg)
NM_032383.5(HPS3):c.694A>G (p.Ile232Val)
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp)
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn)
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.89_114del (p.Arg30fs) rs1553750083
NM_032383.5(HPS3):c.938A>G (p.His313Arg)
NM_032383.5(HPS3):c.963C>T (p.Tyr321=)
NM_032383.5(HPS3):c.970+7A>G rs114029765
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908
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.107del (p.Lys36fs) rs1554948134
NM_181507.1(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
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.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.163G>A (p.Gly55Arg) rs774361456
NM_181507.1(HPS5):c.1785-9C>A rs886048079
NM_181507.1(HPS5):c.1837C>A (p.Leu613Ile) rs190221223
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
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.219G>A (p.Arg73=) rs1131692150
NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.1(HPS5):c.2247A>G (p.Val749=) rs139004989
NM_181507.1(HPS5):c.240C>T (p.Val80=) rs138423875
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.2562-14G>C rs199999276
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.1(HPS5):c.2838-13T>C rs377293025
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.2866T>C (p.Tyr956His) rs147430035
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3058+3A>G rs113304476
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.3297C>T (p.Cys1099=) rs139039126
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457
NM_181507.1(HPS5):c.986-5C>T rs201439984
NM_181507.2(HPS5):c.*1201A>G
NM_181507.2(HPS5):c.*157G>A
NM_181507.2(HPS5):c.*276T>G
NM_181507.2(HPS5):c.*469A>G
NM_181507.2(HPS5):c.*839T>C
NM_181507.2(HPS5):c.*95C>A
NM_181507.2(HPS5):c.-195A>G
NM_181507.2(HPS5):c.-75A>G
NM_181507.2(HPS5):c.-82T>G
NM_181507.2(HPS5):c.1012A>C (p.Asn338His)
NM_181507.2(HPS5):c.1032C>T (p.His344=)
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr)
NM_181507.2(HPS5):c.1165-15C>A rs7128146
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly)
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)
NM_181507.2(HPS5):c.1635-4C>G rs79009787
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val)
NM_181507.2(HPS5):c.1692T>C (p.Pro564=)
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr)
NM_181507.2(HPS5):c.1785-13C>T rs73430857
NM_181507.2(HPS5):c.1803T>C (p.Thr601=)
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu)
NM_181507.2(HPS5):c.2058A>G (p.Glu686=)
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg)
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp)
NM_181507.2(HPS5):c.2721A>G (p.Ser907=)
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184
NM_181507.2(HPS5):c.3058+9A>G rs2049129
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val)
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp)
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro)
NM_181507.2(HPS5):c.535G>A (p.Val179Ile)
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln)
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047
NM_181507.2(HPS5):c.885C>T (p.Leu295=)
NM_181508.1(HPS5):c.-249C>T
nsv1067844

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