ClinVar Miner

List of variants reported as likely benign for congenital isolated hyperinsulinism

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 319
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000352.6(ABCC8):c.2390+123C>T rs4148631 0.70926
NM_000352.6(ABCC8):c.2390+93C>T rs4148630 0.70902
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_003051.4(SLC16A1):c.*145T>G rs11585690 0.01723
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_003051.4(SLC16A1):c.*1876G>C rs11811205 0.01235
NM_003051.4(SLC16A1):c.*332T>C rs41306207 0.01211
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_005271.5(GLUD1):c.*852A>G rs150260124 0.00846
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005271.5(GLUD1):c.*908T>C rs140942830 0.00817
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_005271.5(GLUD1):c.*972G>A rs12980 0.00335
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_003051.4(SLC16A1):c.*1281T>G rs184445532 0.00263
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_005271.5(GLUD1):c.*1282G>C rs181931207 0.00208
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_000352.6(ABCC8):c.1332+4del rs587783164 0.00128
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000352.6(ABCC8):c.1924-17C>T rs117189973 0.00105
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575 0.00079
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) rs536012651 0.00048
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
NM_005327.7(HADH):c.99C>G (p.Ile33Met) rs74428123 0.00038
NM_000352.6(ABCC8):c.2390+17G>C rs200705248 0.00035
NM_005271.5(GLUD1):c.*1379C>T rs181813972 0.00030
NM_005271.5(GLUD1):c.393C>G (p.Val131=) rs147496974 0.00028
NM_003051.4(SLC16A1):c.*1624A>G rs140456426 0.00027
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_005271.5(GLUD1):c.150G>C (p.Arg50=) rs746606279 0.00021
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_005327.7(HADH):c.255C>T (p.Asn85=) rs746650397 0.00016
NM_005271.5(GLUD1):c.195C>T (p.Asn65=) rs760817479 0.00011
NM_005327.7(HADH):c.144A>C (p.Ala48=) rs79881095 0.00011
NM_005327.7(HADH):c.827-10C>T rs372610846 0.00011
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=) rs199541853 0.00010
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=) rs778961697 0.00010
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=) rs368134766 0.00009
NM_005271.5(GLUD1):c.102G>C (p.Arg34=) rs896457764 0.00009
NM_005271.5(GLUD1):c.468G>A (p.Val156=) rs780979729 0.00009
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=) rs368782953 0.00008
NM_000352.6(ABCC8):c.765C>T (p.Ile255=) rs753335564 0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=) rs556416269 0.00005
NM_005271.5(GLUD1):c.585T>C (p.Asp195=) rs756647962 0.00005
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_005327.7(HADH):c.709+18G>A rs369931989 0.00005
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=) rs112488640 0.00004
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=) rs771106160 0.00004
NM_000352.6(ABCC8):c.480C>T (p.His160=) rs769858502 0.00004
NM_005271.5(GLUD1):c.48C>G (p.Pro16=) rs1313982001 0.00004
NM_005327.7(HADH):c.324C>T (p.Ser108=) rs373153417 0.00004
NM_005327.7(HADH):c.384C>T (p.Asn128=) rs369550874 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_005327.7(HADH):c.795C>T (p.Val265=) rs143416676 0.00004
NM_000352.6(ABCC8):c.603G>A (p.Pro201=) rs765113879 0.00003
NM_000352.6(ABCC8):c.822+7G>A rs765890511 0.00003
NM_005327.7(HADH):c.486A>G (p.Arg162=) rs377521547 0.00003
NM_005327.7(HADH):c.714C>T (p.Asp238=) rs201739885 0.00003
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=) rs371181016 0.00002
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=) rs779736828 0.00002
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=) rs754554936 0.00002
NM_000352.6(ABCC8):c.702C>T (p.Asn234=) rs758289249 0.00002
NM_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005271.5(GLUD1):c.432G>T (p.Thr144=) rs1423075857 0.00002
NM_005271.5(GLUD1):c.526+11G>A rs757850230 0.00002
NM_005271.5(GLUD1):c.527-4T>G rs779153065 0.00002
NM_005327.7(HADH):c.261+17G>A rs185657456 0.00002
NM_005327.7(HADH):c.827-9G>A rs1363052334 0.00002
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=) rs776713811 0.00001
NM_000352.6(ABCC8):c.148+13A>C rs773823246 0.00001
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=) rs750360514 0.00001
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=) rs757507467 0.00001
NM_000352.6(ABCC8):c.2475+19G>A rs373894772 0.00001
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=) rs1954592292 0.00001
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=) rs1387302006 0.00001
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=) rs965734923 0.00001
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442 0.00001
NM_000352.6(ABCC8):c.660C>T (p.Pro220=) rs773643362 0.00001
NM_000352.6(ABCC8):c.894C>A (p.Arg298=) rs375094504 0.00001
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=) rs761588360 0.00001
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr) rs1570620206 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005271.5(GLUD1):c.168G>A (p.Ala56=) rs930453131 0.00001
NM_005271.5(GLUD1):c.200T>C (p.Phe67Ser) rs1401755923 0.00001
NM_005271.5(GLUD1):c.527-12C>T rs780201965 0.00001
NM_005271.5(GLUD1):c.594G>A (p.Leu198=) rs781638449 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg) rs761375132 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.579A>G (p.Thr193=) rs762771153 0.00001
NM_005327.7(HADH):c.696G>A (p.Arg232=) rs747476251 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_000162.5(GCK):c.1A>T (p.Met1Leu)
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly) rs1955658642
NM_000352.6(ABCC8):c.2256-16del rs774508952
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=) rs766321878
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=) rs762412267
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=) rs775699878
NM_000352.6(ABCC8):c.413-5G>C rs186946111
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=) rs1250433233
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=) rs1953794808
NM_000352.6(ABCC8):c.795G>T (p.Arg265=) rs1386314454
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=) rs1489389760
NM_003051.3(SLC16A1):c.-249C>G rs60953496
NM_003051.4(SLC16A1):c.362-58TATT[8] rs149491709
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
NM_005271.5(GLUD1):c.108G>A (p.Gln36=)
NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)
NM_005271.5(GLUD1):c.1197+20C>G
NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)
NM_005271.5(GLUD1):c.1279-19G>T
NM_005271.5(GLUD1):c.133C>T (p.Leu45=) rs2133875409
NM_005271.5(GLUD1):c.1344T>C (p.His448=) rs1845866673
NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr) rs2133788934
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
NM_005271.5(GLUD1):c.1495-14C>A rs2133777461
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
NM_005271.5(GLUD1):c.1647G>C (p.Val549=)
NM_005271.5(GLUD1):c.174C>A (p.Ala58=)
NM_005271.5(GLUD1):c.273C>T (p.Thr91=)
NM_005271.5(GLUD1):c.297G>C (p.Arg99=)
NM_005271.5(GLUD1):c.406C>A (p.Arg136=) rs1405119017
NM_005271.5(GLUD1):c.446-9C>T rs1846404467
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=) rs1846403678
NM_005271.5(GLUD1):c.526+10C>T
NM_005271.5(GLUD1):c.534G>T (p.Pro178=) rs764675203
NM_005271.5(GLUD1):c.582+7A>G
NM_005271.5(GLUD1):c.647-14C>T
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His) rs2133811373
NM_005271.5(GLUD1):c.742-8del
NM_005271.5(GLUD1):c.756C>T (p.His252=)
NM_005271.5(GLUD1):c.771T>G (p.Gly257=) rs144831842
NM_005271.5(GLUD1):c.78G>A (p.Ser26=)
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)
NM_005327.7(HADH):c.*660_*661del
NM_005327.7(HADH):c.117C>G (p.Gly39=)
NM_005327.7(HADH):c.120C>T (p.Ala40=)
NM_005327.7(HADH):c.123C>T (p.Gly41=)
NM_005327.7(HADH):c.126T>C (p.Ile42=)
NM_005327.7(HADH):c.132+15C>A
NM_005327.7(HADH):c.132+16T>A
NM_005327.7(HADH):c.132+19A>G
NM_005327.7(HADH):c.133-19T>C
NM_005327.7(HADH):c.133-20T>G
NM_005327.7(HADH):c.141A>G (p.Ala47=)
NM_005327.7(HADH):c.144A>T (p.Ala48=) rs79881095
NM_005327.7(HADH):c.156A>G (p.Thr52=)
NM_005327.7(HADH):c.162G>A (p.Val54=)
NM_005327.7(HADH):c.163T>C (p.Leu55=)
NM_005327.7(HADH):c.180G>A (p.Glu60=)
NM_005327.7(HADH):c.18G>A (p.Arg6=)
NM_005327.7(HADH):c.237G>A (p.Lys79=) rs150930917
NM_005327.7(HADH):c.246T>C (p.Phe82=)
NM_005327.7(HADH):c.249A>G (p.Ala83=)
NM_005327.7(HADH):c.261+10T>C
NM_005327.7(HADH):c.261+12T>C
NM_005327.7(HADH):c.261+15T>A
NM_005327.7(HADH):c.261+16C>A
NM_005327.7(HADH):c.261+16C>G
NM_005327.7(HADH):c.261+18A>T
NM_005327.7(HADH):c.261+19T>A
NM_005327.7(HADH):c.261+20G>A
NM_005327.7(HADH):c.261+7T>A
NM_005327.7(HADH):c.261+8C>G
NM_005327.7(HADH):c.261+8C>T
NM_005327.7(HADH):c.262-19C>T rs2126229206
NM_005327.7(HADH):c.262-5A>C
NM_005327.7(HADH):c.262-5A>G
NM_005327.7(HADH):c.262-6C>T
NM_005327.7(HADH):c.262-8T>C
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.267C>T (p.Gly89=)
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005327.7(HADH):c.306C>G (p.Thr102=)
NM_005327.7(HADH):c.312G>A (p.Thr104=)
NM_005327.7(HADH):c.315T>C (p.Asp105=)
NM_005327.7(HADH):c.327T>C (p.Val109=)
NM_005327.7(HADH):c.336C>T (p.Ser112=)
NM_005327.7(HADH):c.351G>A (p.Val117=)
NM_005327.7(HADH):c.360C>T (p.Ile120=)
NM_005327.7(HADH):c.366G>A (p.Glu122=)
NM_005327.7(HADH):c.381A>G (p.Lys127=)
NM_005327.7(HADH):c.390C>T (p.Leu130=)
NM_005327.7(HADH):c.39C>T (p.Ser13=)
NM_005327.7(HADH):c.419+12C>G
NM_005327.7(HADH):c.419+14G>A
NM_005327.7(HADH):c.419+16A>T
NM_005327.7(HADH):c.419+18A>G
NM_005327.7(HADH):c.419+19A>G
NM_005327.7(HADH):c.420-10C>T
NM_005327.7(HADH):c.420-17A>G
NM_005327.7(HADH):c.420-19C>T
NM_005327.7(HADH):c.420-4A>G
NM_005327.7(HADH):c.426A>G (p.Thr142=)
NM_005327.7(HADH):c.450C>T (p.Ser150=)
NM_005327.7(HADH):c.489A>G (p.Gln163=)
NM_005327.7(HADH):c.48C>T (p.Ser16=)
NM_005327.7(HADH):c.498C>T (p.Phe166=)
NM_005327.7(HADH):c.525G>A (p.Val175=)
NM_005327.7(HADH):c.540T>C (p.Leu180=)
NM_005327.7(HADH):c.546+13C>T
NM_005327.7(HADH):c.546+15G>T
NM_005327.7(HADH):c.546+18dup rs2126232168
NM_005327.7(HADH):c.546+9G>A
NM_005327.7(HADH):c.547-10G>T
NM_005327.7(HADH):c.547-19C>A
NM_005327.7(HADH):c.54C>A (p.Ala18=)
NM_005327.7(HADH):c.567C>T (p.Thr189=)
NM_005327.7(HADH):c.594A>G (p.Val198=)
NM_005327.7(HADH):c.600T>C (p.Phe200=)
NM_005327.7(HADH):c.612A>G (p.Leu204=)
NM_005327.7(HADH):c.615A>G (p.Gly205=)
NM_005327.7(HADH):c.636+16G>A
NM_005327.7(HADH):c.636+16G>T
NM_005327.7(HADH):c.636+18T>C
NM_005327.7(HADH):c.636+20G>A
NM_005327.7(HADH):c.636+7G>C
NM_005327.7(HADH):c.637-10C>T
NM_005327.7(HADH):c.637-18T>C
NM_005327.7(HADH):c.637-20T>C
NM_005327.7(HADH):c.637-7A>C
NM_005327.7(HADH):c.639C>T (p.Asp213=)
NM_005327.7(HADH):c.642T>C (p.Thr214=)
NM_005327.7(HADH):c.651T>C (p.Phe217=)
NM_005327.7(HADH):c.663C>T (p.Arg221=)
NM_005327.7(HADH):c.709+17G>A
NM_005327.7(HADH):c.709+8T>A rs2126237037
NM_005327.7(HADH):c.710-11T>A
NM_005327.7(HADH):c.710-11T>G
NM_005327.7(HADH):c.710-13G>A
NM_005327.7(HADH):c.710-14_710-11dup
NM_005327.7(HADH):c.710-15C>T
NM_005327.7(HADH):c.710-18C>T
NM_005327.7(HADH):c.710-19G>A
NM_005327.7(HADH):c.756C>G (p.Ala252=)
NM_005327.7(HADH):c.756C>T (p.Ala252=)
NM_005327.7(HADH):c.765C>G (p.Pro255=)
NM_005327.7(HADH):c.771C>T (p.Gly257=)
NM_005327.7(HADH):c.774A>G (p.Pro258=)
NM_005327.7(HADH):c.810G>A (p.Thr270=)
NM_005327.7(HADH):c.819C>T (p.Ile273=)
NM_005327.7(HADH):c.826+13del
NM_005327.7(HADH):c.826+8T>C
NM_005327.7(HADH):c.827-18C>T
NM_005327.7(HADH):c.827-20C>G
NM_005327.7(HADH):c.827-20C>T
NM_005327.7(HADH):c.827-4A>C rs1381056065
NM_005327.7(HADH):c.828G>A (p.Gly276=)
NM_005327.7(HADH):c.846A>G (p.Ala282=)
NM_005327.7(HADH):c.873A>G (p.Pro291=)
NM_005327.7(HADH):c.87C>T (p.His29=)
NM_005327.7(HADH):c.897G>A (p.Glu299=)
NM_005327.7(HADH):c.906C>T (p.Phe302=)
NM_005327.7(HADH):c.909C>T (p.Gly303=)
NM_005327.7(HADH):c.921A>T (p.Gly307=)
NM_005327.7(HADH):c.93G>A (p.Thr31=)
NM_005327.7(HADH):c.99C>T (p.Ile33=) rs74428123

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