ClinVar Miner

List of variants in gene HPS3 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.1692-192T>G rs772903 0.70831
NM_032383.5(HPS3):c.1164-139A>C rs2254913 0.69958
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_032383.5(HPS3):c.2107-57A>G rs61615092 0.44604
NM_032383.5(HPS3):c.1163+62T>G rs11715291 0.28038
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_032383.5(HPS3):c.2107-52A>G rs57943258 0.17569
NM_032383.5(HPS3):c.1164-25C>T rs2689232 0.17519
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_032383.5(HPS3):c.-70T>C rs13089410 0.02214
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_032383.5(HPS3):c.884+7T>C rs202215373 0.00058
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.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987 0.00033
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
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_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802 0.00025
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_032383.5(HPS3):c.1769G>A (p.Arg590His) rs145158238 0.00017
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_032383.5(HPS3):c.132C>A (p.Phe44Leu) rs779631326 0.00013
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) rs577273287 0.00010
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_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_032383.5(HPS3):c.338T>G (p.Val113Gly) rs763529688 0.00008
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_032383.5(HPS3):c.1224G>A (p.Pro408=) rs752942876 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_032383.5(HPS3):c.-50C>T rs750659280 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_032383.5(HPS3):c.677A>G (p.His226Arg) rs188661079 0.00005
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_032383.5(HPS3):c.905C>T (p.Ser302Leu) rs781327575 0.00004
NM_032383.5(HPS3):c.957C>G (p.Pro319=) rs751233801 0.00004
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483 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.1125G>A (p.Gln375=) rs367816094 0.00002
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836 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.1509+5T>C rs200117898 0.00002
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter) rs752837159 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_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.1196G>T (p.Ser399Ile) rs886058078 0.00001
NM_032383.5(HPS3):c.1785A>G (p.Val595=) rs150262900 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.1861G>T (p.Glu621Ter) rs1488175163 0.00001
NM_032383.5(HPS3):c.1951A>G (p.Met651Val) rs753269782 0.00001
NM_032383.5(HPS3):c.2078A>G (p.His693Arg) rs759772353 0.00001
NM_032383.5(HPS3):c.2181C>T (p.Thr727=) rs573058813 0.00001
NM_032383.5(HPS3):c.2292+1G>A rs755724489 0.00001
NM_032383.5(HPS3):c.305C>A (p.Ser102Tyr) rs1189649144 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.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.938A>G (p.His313Arg) rs910569690 0.00001
NM_032383.5(HPS3):c.970G>A (p.Gly324Ser) rs370943042 0.00001
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.5(HPS3):c.-43C>A rs375227018
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1055del (p.Gly352fs)
NM_032383.5(HPS3):c.1058_1059del (p.Tyr353fs)
NM_032383.5(HPS3):c.10C>T (p.Leu4=) rs1343390851
NM_032383.5(HPS3):c.1102C>T (p.Gln368Ter)
NM_032383.5(HPS3):c.1120C>T (p.Gln374Ter)
NM_032383.5(HPS3):c.1123C>T (p.Gln375Ter)
NM_032383.5(HPS3):c.1128A>G (p.Ala376=) rs1722738295
NM_032383.5(HPS3):c.1150_1153del (p.His384fs)
NM_032383.5(HPS3):c.1151A>C (p.His384Pro)
NM_032383.5(HPS3):c.1153_1160del (p.Val385fs)
NM_032383.5(HPS3):c.1154del (p.Val385fs)
NM_032383.5(HPS3):c.1175del (p.Gln392fs)
NM_032383.5(HPS3):c.1179T>A (p.Cys393Ter)
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) rs1309602954
NM_032383.5(HPS3):c.1200G>C (p.Ala400=) rs377368442
NM_032383.5(HPS3):c.1231dup (p.Asp411fs)
NM_032383.5(HPS3):c.1246-2A>T rs1282659169
NM_032383.5(HPS3):c.1246_1247insT (p.Ala416fs)
NM_032383.5(HPS3):c.1246dup
NM_032383.5(HPS3):c.1249del (p.Cys417fs)
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) rs1553750097
NM_032383.5(HPS3):c.1275T>A (p.Cys425Ter)
NM_032383.5(HPS3):c.1291del (p.Leu431fs)
NM_032383.5(HPS3):c.1385C>A (p.Ser462Ter) rs1330496818
NM_032383.5(HPS3):c.145C>T (p.Gln49Ter)
NM_032383.5(HPS3):c.148G>T (p.Glu50Ter)
NM_032383.5(HPS3):c.1500C>A (p.Tyr500Ter)
NM_032383.5(HPS3):c.1509+1G>A rs746906314
NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer) rs756611897
NM_032383.5(HPS3):c.1561del (p.Leu521fs) rs2108158577
NM_032383.5(HPS3):c.157del (p.Gln53fs)
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.1627G>T (p.Glu543Ter)
NM_032383.5(HPS3):c.1631del (p.Lys544fs)
NM_032383.5(HPS3):c.1660del (p.Ser554fs)
NM_032383.5(HPS3):c.1678del (p.Asp560fs)
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) rs778152054
NM_032383.5(HPS3):c.1685_1686delinsT (p.Tyr562fs)
NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter) rs1292407171
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter) rs1576687466
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys) rs143804526
NM_032383.5(HPS3):c.1814del (p.Gly605fs)
NM_032383.5(HPS3):c.1824_1825del (p.Phe608fs)
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro) rs2108112412
NM_032383.5(HPS3):c.1842_1843del (p.Leu614_Tyr615insTer) rs1363245838
NM_032383.5(HPS3):c.1868_1872del (p.Asn623fs) rs749632423
NM_032383.5(HPS3):c.1873-1G>A
NM_032383.5(HPS3):c.199C>T (p.Leu67=) rs546531255
NM_032383.5(HPS3):c.2038A>T (p.Lys680Ter)
NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter)
NM_032383.5(HPS3):c.2080A>T (p.Arg694Ter)
NM_032383.5(HPS3):c.2086_2093del (p.Glu696fs)
NM_032383.5(HPS3):c.2090_2094del (p.Met697fs) rs1032570128
NM_032383.5(HPS3):c.2106+1G>T
NM_032383.5(HPS3):c.2134G>T (p.Glu712Ter)
NM_032383.5(HPS3):c.2150T>A (p.Ile717Asn) rs2108168208
NM_032383.5(HPS3):c.2155C>T (p.Gln719Ter)
NM_032383.5(HPS3):c.217+2T>G rs1286892626
NM_032383.5(HPS3):c.2182G>T (p.Glu728Ter)
NM_032383.5(HPS3):c.2194dup (p.His732fs)
NM_032383.5(HPS3):c.219del (p.Asp74fs)
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2209C>T (p.Gln737Ter)
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.5(HPS3):c.2287_2289delinsA (p.Phe763fs)
NM_032383.5(HPS3):c.2289del (p.Phe763fs)
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
NM_032383.5(HPS3):c.249_252del (p.Asn83fs) rs770108122
NM_032383.5(HPS3):c.272A>C (p.Tyr91Ser)
NM_032383.5(HPS3):c.288_289del (p.Asn96fs)
NM_032383.5(HPS3):c.319C>T (p.Arg107Ter)
NM_032383.5(HPS3):c.323T>C (p.Met108Thr) rs1722344814
NM_032383.5(HPS3):c.324dup (p.Ile109fs)
NM_032383.5(HPS3):c.325_328del (p.Ile109fs)
NM_032383.5(HPS3):c.356_357del (p.Lys119fs)
NM_032383.5(HPS3):c.35C>A (p.Ser12Ter) rs1466073004
NM_032383.5(HPS3):c.371del (p.Gln124fs)
NM_032383.5(HPS3):c.403del (p.Ala135fs) rs748883997
NM_032383.5(HPS3):c.423T>A (p.Cys141Ter)
NM_032383.5(HPS3):c.479G>A (p.Ser160Asn) rs979740599
NM_032383.5(HPS3):c.496_497dup (p.Asn167fs)
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser) rs1722360673
NM_032383.5(HPS3):c.502G>T (p.Glu168Ter)
NM_032383.5(HPS3):c.505delinsAAGCAT (p.Glu169fs)
NM_032383.5(HPS3):c.513_516del (p.Leu172fs)
NM_032383.5(HPS3):c.589dup (p.Tyr197fs)
NM_032383.5(HPS3):c.601_602insACTGTCTCTTATACACATC (p.Met201fs)
NM_032383.5(HPS3):c.617_618insTCAGCAG (p.Leu207fs)
NM_032383.5(HPS3):c.658dup (p.Arg220fs)
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_032383.5(HPS3):c.691C>T (p.Arg231Ter)
NM_032383.5(HPS3):c.706G>T (p.Glu236Ter)
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.5(HPS3):c.731C>A (p.Ser244Ter)
NM_032383.5(HPS3):c.745_746del (p.Ser248_Asp249insTer)
NM_032383.5(HPS3):c.791_792insC (p.Lys264fs)
NM_032383.5(HPS3):c.795_796del (p.Ser265fs)
NM_032383.5(HPS3):c.795_796delinsA (p.Ser265fs)
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)
NM_032383.5(HPS3):c.809T>A (p.Leu270Ter)
NM_032383.5(HPS3):c.823G>T (p.Glu275Ter)
NM_032383.5(HPS3):c.827C>G (p.Ser276Cys)
NM_032383.5(HPS3):c.84_109del (p.Arg30fs)
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032383.5(HPS3):c.855del (p.Lys285fs)
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)
NM_032383.5(HPS3):c.869_870del (p.Gln290fs)
NM_032383.5(HPS3):c.87del (p.Arg30fs)
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_032383.5(HPS3):c.89_114del (p.Arg30fs) rs1553750083
NM_032383.5(HPS3):c.904dup (p.Ser302fs)
NM_032383.5(HPS3):c.931A>T (p.Lys311Ter)
NM_032383.5(HPS3):c.950_951del (p.Leu317fs)
NM_032383.5(HPS3):c.956_957del (p.Pro319fs)
NM_032383.5(HPS3):c.963C>T (p.Tyr321=) rs1722440534
NM_032383.5(HPS3):c.964del (p.Gln322fs)
NM_032383.5(HPS3):c.970+1G>A
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108
NM_032383.5(HPS3):c.995dup (p.Asn332fs)

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