ClinVar Miner

List of variants in gene HCN4 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_005477.3(HCN4):c.1978+261T>C rs485294 0.97511
NM_005477.3(HCN4):c.3600A>G (p.Pro1200=) rs529004 0.88237
NM_005477.3(HCN4):c.1979-41A>G rs481579 0.80894
NM_005477.3(HCN4):c.1979-150G>A rs62015502 0.30009
NM_005477.3(HCN4):c.1210-216G>T rs76789737 0.28580
NM_005477.2(HCN4):c.-1076A>C rs7172796 0.22856
NM_005477.3(HCN4):c.1978+252C>T rs72741448 0.11507
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_005477.3(HCN4):c.1591-237C>T rs145211410 0.01558
NM_005477.3(HCN4):c.1737+20G>A rs115706632 0.01520
NM_005477.3(HCN4):c.1978+46G>A rs41277728 0.01318
NM_005477.3(HCN4):c.1978+260T>A rs140161480 0.01102
NM_005477.3(HCN4):c.2144-55A>G rs142989707 0.01062
NM_005477.3(HCN4):c.1683C>A (p.Gly561=) rs62641690 0.01030
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_005477.3(HCN4):c.3033T>G (p.Ser1011=) rs186728422 0.00931
NM_005477.3(HCN4):c.1210-103C>G rs73442004 0.00885
NM_005477.3(HCN4):c.-277_-268del rs577671006 0.00814
NM_005477.3(HCN4):c.2979G>A (p.Thr993=) rs75307879 0.00796
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_005477.3(HCN4):c.1591-19C>A rs41279186 0.00720
NM_005477.3(HCN4):c.2673G>A (p.Ser891=) rs191092709 0.00666
NM_005477.3(HCN4):c.36C>G (p.Leu12=) rs201193660 0.00635
NM_005477.3(HCN4):c.3288C>T (p.Asp1096=) rs116042117 0.00490
NM_005477.3(HCN4):c.2831C>T (p.Ala944Val) rs144450232 0.00416
NM_005477.3(HCN4):c.2601C>A (p.Ala867=) rs143188160 0.00352
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377 0.00352
NM_005477.3(HCN4):c.-189G>A rs548581131 0.00346
NM_005477.3(HCN4):c.1371+8C>T rs199838832 0.00295
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His) rs147181577 0.00191
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00185
NM_005477.3(HCN4):c.1978+3G>T rs113112855 0.00166
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00163
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_005477.3(HCN4):c.546C>G (p.Pro182=) rs571671463 0.00122
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser) rs201418838 0.00084
NM_005477.3(HCN4):c.*2581C>T rs535089156 0.00083
NM_005477.3(HCN4):c.1653C>A (p.Ile551=) rs141966309 0.00083
NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr) rs138714806 0.00076
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln) rs200507617 0.00068
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_005477.3(HCN4):c.3187C>A (p.Pro1063Thr) rs535227661 0.00049
NM_005477.3(HCN4):c.1371+9G>A rs200303699 0.00048
NM_005477.3(HCN4):c.2694C>T (p.Gly898=) rs375169111 0.00046
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465 0.00045
NM_005477.3(HCN4):c.2210A>G (p.Gln737Arg) rs146732972 0.00043
NM_005477.3(HCN4):c.*1085A>C rs563333401 0.00036
NM_005477.3(HCN4):c.2181C>T (p.His727=) rs140354126 0.00036
NM_005477.3(HCN4):c.2420G>A (p.Arg807His) rs200395062 0.00036
NM_005477.3(HCN4):c.561T>C (p.Ala187=) rs375206856 0.00030
NM_005477.3(HCN4):c.1656C>T (p.His552=) rs148142070 0.00029
NM_005477.3(HCN4):c.1372-13C>T rs374981035 0.00028
NM_005477.3(HCN4):c.2668C>T (p.Pro890Ser) rs184801511 0.00026
NM_005477.3(HCN4):c.1536C>T (p.His512=) rs146306966 0.00024
NM_005477.3(HCN4):c.1635C>T (p.Pro545=) rs140015730 0.00024
NM_005477.3(HCN4):c.2109C>T (p.Phe703=) rs150378994 0.00021
NM_005477.3(HCN4):c.2465C>T (p.Thr822Met) rs201143364 0.00020
NM_005477.3(HCN4):c.1979-51T>A rs534315900 0.00018
NM_005477.3(HCN4):c.2313C>T (p.Pro771=) rs142298104 0.00016
NM_005477.3(HCN4):c.2904G>A (p.Pro968=) rs368145651 0.00016
NM_005477.3(HCN4):c.1738-6C>T rs760763085 0.00014
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu) rs200814534 0.00014
NM_005477.3(HCN4):c.3012G>A (p.Pro1004=) rs377602893 0.00014
NM_005477.3(HCN4):c.2025C>T (p.Ala675=) rs149033101 0.00013
NM_005477.3(HCN4):c.2701G>A (p.Ala901Thr) rs201742383 0.00012
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00012
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu) rs200546024 0.00011
NM_005477.3(HCN4):c.2838C>T (p.Pro946=) rs552881314 0.00011
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=) rs749785521 0.00011
NM_005477.3(HCN4):c.584C>T (p.Ala195Val) rs201375192 0.00011
NM_005477.3(HCN4):c.3195C>A (p.Val1065=) rs4493011 0.00010
NM_005477.3(HCN4):c.1437C>T (p.Ile479=) rs202001597 0.00009
NM_005477.3(HCN4):c.1815G>A (p.Thr605=) rs367753936 0.00009
NM_005477.3(HCN4):c.2604C>T (p.Pro868=) rs138773305 0.00009
NM_005477.3(HCN4):c.2978C>T (p.Thr993Met) rs199798661 0.00009
NM_005477.3(HCN4):c.418G>A (p.Gly140Ser) rs773857091 0.00009
NM_005477.3(HCN4):c.2669C>T (p.Pro890Leu) rs758929649 0.00008
NM_005477.3(HCN4):c.2695G>A (p.Val899Ile) rs370669201 0.00008
NM_005477.3(HCN4):c.3531G>T (p.Gly1177=) rs375911378 0.00008
NM_005477.3(HCN4):c.724C>T (p.Arg242Cys) rs745880598 0.00008
NM_005477.3(HCN4):c.3009G>A (p.Pro1003=) rs775401682 0.00007
NM_005477.3(HCN4):c.3351G>A (p.Pro1117=) rs375138488 0.00007
NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg) rs532186403 0.00007
NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) rs542532555 0.00007
NM_005477.3(HCN4):c.1303C>T (p.Leu435=) rs746461789 0.00006
NM_005477.3(HCN4):c.1636G>A (p.Asp546Asn) rs370884239 0.00006
NM_005477.3(HCN4):c.258G>A (p.Lys86=) rs1019029244 0.00006
NM_005477.3(HCN4):c.2605G>A (p.Ala869Thr) rs775134377 0.00006
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) rs200495478 0.00006
NM_005477.3(HCN4):c.3461G>A (p.Arg1154Gln) rs145862018 0.00006
NM_005477.3(HCN4):c.1242C>T (p.Ala414=) rs376218786 0.00005
NM_005477.3(HCN4):c.1254C>T (p.Ile418=) rs373794941 0.00005
NM_005477.3(HCN4):c.1924G>A (p.Val642Met) rs779402752 0.00005
NM_005477.3(HCN4):c.2458G>A (p.Gly820Arg) rs761337460 0.00005
NM_005477.3(HCN4):c.2537C>T (p.Pro846Leu) rs747467877 0.00005
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu) rs371562763 0.00005
NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp) rs200896834 0.00005
NM_005477.3(HCN4):c.1455G>A (p.Ala485=) rs148875639 0.00004
NM_005477.3(HCN4):c.2069A>G (p.Asn690Ser) rs776033369 0.00004
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile) rs376631391 0.00004
NM_005477.3(HCN4):c.2266G>A (p.Ala756Thr) rs143339036 0.00004
NM_005477.3(HCN4):c.2383C>T (p.Leu795Phe) rs1435000428 0.00004
NM_005477.3(HCN4):c.2715C>T (p.Ala905=) rs745886315 0.00004
NM_005477.3(HCN4):c.2832G>A (p.Ala944=) rs747946171 0.00004
NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp) rs755614529 0.00004
NM_005477.3(HCN4):c.2903C>T (p.Pro968Leu) rs548194804 0.00004
NM_005477.3(HCN4):c.2995C>T (p.Arg999Trp) rs538668505 0.00004
NM_005477.3(HCN4):c.3078C>T (p.Ser1026=) rs202188345 0.00004
NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp) rs772839442 0.00004
NM_005477.3(HCN4):c.3396C>T (p.Ser1132=) rs369224427 0.00004
NM_005477.3(HCN4):c.3409C>T (p.Pro1137Ser) rs773914774 0.00004
NM_005477.3(HCN4):c.3414del (p.Arg1140fs) rs746402732 0.00004
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=) rs375637572 0.00004
NM_005477.3(HCN4):c.3596T>A (p.Leu1199Gln) rs146751122 0.00004
NM_005477.3(HCN4):c.394A>C (p.Ile132Leu) rs772764704 0.00004
NM_005477.3(HCN4):c.497C>T (p.Pro166Leu) rs771442346 0.00004
NM_005477.3(HCN4):c.*8C>T rs767027074 0.00003
NM_005477.3(HCN4):c.1915G>A (p.Val639Met) rs563194186 0.00003
NM_005477.3(HCN4):c.2801G>A (p.Arg934His) rs369485237 0.00003
NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr) rs777648103 0.00003
NM_005477.3(HCN4):c.2839G>A (p.Gly947Arg) rs753524680 0.00003
NM_005477.3(HCN4):c.3228C>T (p.Pro1076=) rs770161577 0.00003
NM_005477.3(HCN4):c.3293C>T (p.Ala1098Val) rs1064797200 0.00003
NM_005477.3(HCN4):c.3379G>A (p.Gly1127Arg) rs748279911 0.00003
NM_005477.3(HCN4):c.1818C>T (p.Ser606=) rs1247778865 0.00002
NM_005477.3(HCN4):c.1871G>A (p.Arg624Gln) rs763842368 0.00002
NM_005477.3(HCN4):c.2063A>G (p.Asn688Ser) rs778801845 0.00002
NM_005477.3(HCN4):c.2194G>A (p.Gly732Ser) rs199530458 0.00002
NM_005477.3(HCN4):c.2370T>C (p.Ser790=) rs747648596 0.00002
NM_005477.3(HCN4):c.2555C>T (p.Pro852Leu) rs779241036 0.00002
NM_005477.3(HCN4):c.2875C>G (p.Leu959Val) rs1057524285 0.00002
NM_005477.3(HCN4):c.3131G>A (p.Arg1044Gln) rs750637152 0.00002
NM_005477.3(HCN4):c.3197C>A (p.Pro1066His) rs765155640 0.00002
NM_005477.3(HCN4):c.3218C>T (p.Pro1073Leu) rs982016034 0.00002
NM_005477.3(HCN4):c.3232C>T (p.Arg1078Cys) rs781376523 0.00002
NM_005477.3(HCN4):c.3264G>A (p.Ala1088=) rs752705479 0.00002
NM_005477.3(HCN4):c.334G>A (p.Gly112Ser) rs765099391 0.00002
NM_005477.3(HCN4):c.3383G>T (p.Gly1128Val) rs727503957 0.00002
NM_005477.3(HCN4):c.3581C>T (p.Pro1194Leu) rs147982868 0.00002
NM_005477.3(HCN4):c.556A>G (p.Thr186Ala) rs1085307696 0.00002
NM_005477.3(HCN4):c.725G>A (p.Arg242His) rs1253627105 0.00002
NM_005477.3(HCN4):c.1297G>A (p.Gly433Ser) rs573588965 0.00001
NM_005477.3(HCN4):c.1402G>A (p.Ala468Thr) rs372632530 0.00001
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg) rs794727637 0.00001
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00001
NM_005477.3(HCN4):c.1473C>T (p.Asp491=) rs773250829 0.00001
NM_005477.3(HCN4):c.1560G>A (p.Leu520=) rs200033529 0.00001
NM_005477.3(HCN4):c.1576C>G (p.Gln526Glu) rs1474216387 0.00001
NM_005477.3(HCN4):c.1661A>G (p.Tyr554Cys) rs767926374 0.00001
NM_005477.3(HCN4):c.1692C>T (p.Phe564=) rs770857939 0.00001
NM_005477.3(HCN4):c.1796C>T (p.Ala599Val) rs775019344 0.00001
NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys) rs201319883 0.00001
NM_005477.3(HCN4):c.1896G>A (p.Met632Ile) rs200737571 0.00001
NM_005477.3(HCN4):c.1987C>A (p.Leu663Met) rs1265876338 0.00001
NM_005477.3(HCN4):c.1996C>T (p.Arg666Trp) rs199943122 0.00001
NM_005477.3(HCN4):c.2003G>A (p.Arg668Gln) rs757268783 0.00001
NM_005477.3(HCN4):c.2053A>C (p.Ser685Arg) rs1161776375 0.00001
NM_005477.3(HCN4):c.2055C>T (p.Ser685=) rs886042819 0.00001
NM_005477.3(HCN4):c.2182G>A (p.Asp728Asn) rs200468312 0.00001
NM_005477.3(HCN4):c.2268G>A (p.Ala756=) rs781114942 0.00001
NM_005477.3(HCN4):c.2273G>A (p.Arg758His) rs373284500 0.00001
NM_005477.3(HCN4):c.2326C>A (p.Pro776Thr) rs148714049 0.00001
NM_005477.3(HCN4):c.2399G>A (p.Arg800His) rs375180021 0.00001
NM_005477.3(HCN4):c.2523G>A (p.Ser841=) rs768157473 0.00001
NM_005477.3(HCN4):c.2526C>T (p.Pro842=) rs201499694 0.00001
NM_005477.3(HCN4):c.2527G>A (p.Ala843Thr) rs777023781 0.00001
NM_005477.3(HCN4):c.2545G>T (p.Val849Leu) rs202138767 0.00001
NM_005477.3(HCN4):c.2587G>A (p.Ala863Thr) rs767354516 0.00001
NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg) rs373572497 0.00001
NM_005477.3(HCN4):c.2738C>T (p.Ala913Val) rs777560053 0.00001
NM_005477.3(HCN4):c.3028G>T (p.Ala1010Ser) rs748634893 0.00001
NM_005477.3(HCN4):c.3031T>C (p.Ser1011Pro) rs890395300 0.00001
NM_005477.3(HCN4):c.3064C>T (p.Arg1022Ter) rs762950777 0.00001
NM_005477.3(HCN4):c.3126G>A (p.Pro1042=) rs1057521459 0.00001
NM_005477.3(HCN4):c.3172T>G (p.Ser1058Ala) rs1064796786 0.00001
NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp) rs770658894 0.00001
NM_005477.3(HCN4):c.3251A>T (p.Lys1084Met) rs751716200 0.00001
NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys) rs760392343 0.00001
NM_005477.3(HCN4):c.331G>A (p.Gly111Ser) rs758437800 0.00001
NM_005477.3(HCN4):c.3363G>C (p.Arg1121Ser) rs794727919 0.00001
NM_005477.3(HCN4):c.3382G>A (p.Gly1128Ser) rs779132775 0.00001
NM_005477.3(HCN4):c.3448G>A (p.Val1150Ile) rs772491303 0.00001
NM_005477.3(HCN4):c.3487C>A (p.Pro1163Thr) rs779811451 0.00001
NM_005477.3(HCN4):c.3512G>T (p.Arg1171Ile) rs751152874 0.00001
NM_005477.3(HCN4):c.433C>G (p.Pro145Ala) rs886043525 0.00001
NM_005477.3(HCN4):c.673G>A (p.Gly225Arg) rs767982466 0.00001
NM_005477.3(HCN4):c.743A>G (p.Lys248Arg) rs191744064 0.00001
NM_005477.3(HCN4):c.91G>A (p.Asp31Asn) rs757500423 0.00001
GRCh37/hg19 15q24.1(chr15:73653485-73661123)x1
GRCh37/hg19 15q24.1(chr15:73660092-73660615)x1
GRCh37/hg19 15q24.1(chr15:73660092-73660714)x1
GRCh37/hg19 15q24.1(chr15:73660092-73661071)x1
GRCh37/hg19 15q24.1(chr15:73660092-73661123)x1
GRCh37/hg19 15q24.1(chr15:73660092-73661188)x1
GRCh37/hg19 15q24.1(chr15:73660092-73670196)x1
GRCh37/hg19 15q24.1(chr15:73660092-73670781)x1
GRCh37/hg19 15q24.1(chr15:73660092-73680301)x1
GRCh37/hg19 15q24.1(chr15:73660218-73680301)x1
GRCh37/hg19 15q24.1(chr15:73660269-73661123)x1
GRCh37/hg19 15q24.1(chr15:73660269-73669907)x3
NM_005477.3(HCN4):c.*112AC[3] rs35177144
NM_005477.3(HCN4):c.*2C>G rs2151213654
NM_005477.3(HCN4):c.110C>A (p.Ala37Asp)
NM_005477.3(HCN4):c.1346G>C (p.Cys449Ser) rs786205805
NM_005477.3(HCN4):c.1381T>C (p.Trp461Arg) rs1555475992
NM_005477.3(HCN4):c.1418T>C (p.Met473Thr) rs1226036490
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005477.3(HCN4):c.144C>G (p.Ile48Met)
NM_005477.3(HCN4):c.1462G>A (p.Gly488Ser) rs886042821
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn) rs1060500107
NM_005477.3(HCN4):c.1480C>T (p.Leu494Phe) rs2151217007
NM_005477.3(HCN4):c.1573C>T (p.Arg525Cys) rs1429346819
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn) rs1555475961
NM_005477.3(HCN4):c.1591-38_1591-15del rs768333616
NM_005477.3(HCN4):c.1641C>T (p.Thr547=) rs1567771524
NM_005477.3(HCN4):c.174C>T (p.Pro58=) rs920292438
NM_005477.3(HCN4):c.1805A>G (p.Asn602Ser)
NM_005477.3(HCN4):c.1931C>A (p.Thr644Asn)
NM_005477.3(HCN4):c.196G>A (p.Glu66Lys) rs786205803
NM_005477.3(HCN4):c.2116G>A (p.Val706Met) rs1359396157
NM_005477.3(HCN4):c.2144-2A>G
NM_005477.3(HCN4):c.2256G>A (p.Met752Ile) rs2151214886
NM_005477.3(HCN4):c.2274C>T (p.Arg758=) rs749766433
NM_005477.3(HCN4):c.2309C>A (p.Thr770Lys) rs763021264
NM_005477.3(HCN4):c.236G>C (p.Gly79Ala) rs1555479039
NM_005477.3(HCN4):c.2453G>A (p.Gly818Asp)
NM_005477.3(HCN4):c.2482C>T (p.Arg828Trp) rs1281853703
NM_005477.3(HCN4):c.2494C>T (p.Leu832=)
NM_005477.3(HCN4):c.2551A>G (p.Thr851Ala) rs1555475302
NM_005477.3(HCN4):c.2553A>G (p.Thr851=) rs748390169
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) rs775803239
NM_005477.3(HCN4):c.2850_2867delinsGG (p.Leu952fs) rs2151214343
NM_005477.3(HCN4):c.2878CCACCC[1] (p.Pro962_Pro963del) rs750207209
NM_005477.3(HCN4):c.2969C>G (p.Pro990Arg) rs755329686
NM_005477.3(HCN4):c.3105A>C (p.Pro1035=)
NM_005477.3(HCN4):c.3116C>G (p.Pro1039Arg) rs572132730
NM_005477.3(HCN4):c.3191_3217del (p.Gln1064_Pro1072del) rs776487863
NM_005477.3(HCN4):c.321C>T (p.Gly107=) rs1555479019
NM_005477.3(HCN4):c.322G>C (p.Gly108Arg) rs1057524788
NM_005477.3(HCN4):c.326G>A (p.Gly109Asp) rs2151228597
NM_005477.3(HCN4):c.3300T>C (p.Thr1100=) rs2151213924
NM_005477.3(HCN4):c.3378C>G (p.Ser1126Arg) rs758673317
NM_005477.3(HCN4):c.3378C>T (p.Ser1126=) rs758673317
NM_005477.3(HCN4):c.3433A>G (p.Ile1145Val) rs2042867733
NM_005477.3(HCN4):c.3488C>A (p.Pro1163His) rs756052150
NM_005477.3(HCN4):c.3490C>T (p.Pro1164Ser) rs750255859
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs) rs774674047
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs) rs786205259
NM_005477.3(HCN4):c.3536dup (p.Leu1180fs) rs1416588482
NM_005477.3(HCN4):c.403G>A (p.Gly135Ser) rs2151228560
NM_005477.3(HCN4):c.483_500dup (p.Ala162_Pro167dup) rs957058060
NM_005477.3(HCN4):c.491C>T (p.Ser164Leu) rs1214785817
NM_005477.3(HCN4):c.529G>T (p.Ala177Ser) rs1567801731
NM_005477.3(HCN4):c.569T>A (p.Val190Glu) rs786205269
NM_005477.3(HCN4):c.644A>G (p.Gln215Arg) rs2151228399
NM_005477.3(HCN4):c.761T>C (p.Ile254Thr) rs2151228367
NM_005477.3(HCN4):c.785+104dup rs145930956
NM_005477.3(HCN4):c.785+18T>A rs1412056222

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