ClinVar Miner

List of variants reported as uncertain significance for Hermansky-Pudlak syndrome without pulmonary fibrosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 203
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.*135T>C rs375383865 0.01150
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_000096.4(CP):c.*1081T>A rs188137938 0.00174
NM_181507.2(HPS5):c.309A>G (p.Glu103=) rs77722090 0.00163
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_032383.5(HPS3):c.*98A>T rs113951847 0.00139
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_032383.5(HPS3):c.*96T>A rs879086473 0.00060
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His) rs147430035 0.00047
NM_032383.5(HPS3):c.*95A>C rs1013031553 0.00045
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_181507.2(HPS5):c.986-5C>T rs201439984 0.00036
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) rs149692177 0.00034
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987 0.00033
NM_181507.2(HPS5):c.2721A>G (p.Ser907=) rs139795577 0.00032
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_024747.6(HPS6):c.-5G>A rs376684120 0.00027
NM_181507.2(HPS5):c.*812A>C rs755078355 0.00027
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_181507.2(HPS5):c.2525C>T (p.Pro842Leu) rs149039105 0.00025
NM_024747.6(HPS6):c.1035G>A (p.Arg345=) rs374860183 0.00024
NM_024747.6(HPS6):c.1039G>A (p.Val347Ile) rs139517839 0.00023
NM_024747.6(HPS6):c.2260C>G (p.Leu754Val) rs202188533 0.00023
NM_181507.2(HPS5):c.*95C>A rs776484868 0.00023
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg) rs149564550 0.00023
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_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802 0.00019
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=) rs139039126 0.00019
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp) rs376165374 0.00016
NM_181507.2(HPS5):c.*182C>T rs886048074 0.00016
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn) rs142793392 0.00015
NM_032383.5(HPS3):c.694A>G (p.Ile232Val) rs199722122 0.00014
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe) rs149512871 0.00014
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_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_024747.6(HPS6):c.2231G>T (p.Gly744Val) rs770148492 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_024747.6(HPS6):c.692C>G (p.Pro231Arg) rs754025975 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_181507.2(HPS5):c.1940T>C (p.Leu647Ser) rs781166596 0.00008
NM_024747.6(HPS6):c.634G>A (p.Val212Met) rs375789510 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
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.159G>T (p.Gln53His) rs774480483 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_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.2461G>T (p.Val821Leu) rs373228021 0.00005
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_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.1A>G (p.Met1Val) rs763073715 0.00003
NM_024747.6(HPS6):c.2112C>T (p.Leu704=) rs764640708 0.00003
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483 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.1075C>T (p.Arg359Cys) rs143073506 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_181507.2(HPS5):c.3059-10G>A rs764418389 0.00003
NM_181507.2(HPS5):c.370C>T (p.Arg124Ter) rs577034676 0.00003
NM_024747.6(HPS6):c.1417G>A (p.Val473Met) rs542540023 0.00002
NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys) rs749139864 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.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_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.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.2066A>G (p.Glu689Gly) rs564959505 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.755G>A (p.Gly252Glu) rs755846129 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_024747.6(HPS6):c.1127G>A (p.Arg376His) rs1270858817
NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn) rs886046651
NM_024747.6(HPS6):c.1241G>A (p.Arg414Gln)
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val) rs201468546
NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)
NM_024747.6(HPS6):c.1274A>T (p.Glu425Val)
NM_024747.6(HPS6):c.1360A>G (p.Met454Val) rs769401035
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.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu) rs544314793
NM_024747.6(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.6(HPS6):c.370G>T (p.Gly124Trp) rs766916912
NM_024747.6(HPS6):c.732A>G (p.Gly244=) rs756521666
NM_024747.6(HPS6):c.7C>T (p.Arg3Cys) rs975351475
NM_032383.5(HPS3):c.*138A>T rs1049481742
NM_032383.5(HPS3):c.*207C>T rs1725097839
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.182T>C (p.Leu61Pro) rs2108112412
NM_032383.5(HPS3):c.2150T>A (p.Ile717Asn) rs2108168208
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.2747C>G (p.Pro916Arg)
NM_032383.5(HPS3):c.2887+8G>T rs781312506
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164
NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile)
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.827C>G (p.Ser276Cys)
NM_032383.5(HPS3):c.963C>T (p.Tyr321=) rs1722440534
NM_181507.1(HPS5):c.-251C>T rs4150530
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.1423del (p.Leu475fs) rs766602179
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.2068A>C (p.Lys690Gln)
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)
NM_181507.2(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.2(HPS5):c.2659C>A (p.Pro887Thr)
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu) rs201664625
NM_181507.2(HPS5):c.406C>G (p.Leu136Val) rs2134473815
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) rs1590156657
NM_181507.2(HPS5):c.885C>T (p.Leu295=) rs369851648

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.