ClinVar Miner

List of variants reported as pathogenic for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 295
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HGVS dbSNP
GRCh37/hg19 3q28(chr3:190039387-190040504)
MPLKIP, EX1-2DEL
NC_000003.11:g.(?_4403818)_(4459826_?)del
NC_000003.11:g.(?_4403818)_(4494743_?)del
NC_000003.12:g.(?_4362124)_(4467265_?)del
NC_000003.12:g.(?_4410855)_(4467255_?)del
NC_000003.12:g.(?_4449256)_(4467255_?)del
NC_000003.12:g.(?_4452866)_(4467255_?)del
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000006.11:g.(?_137187755)_(137193401_?)del
NC_000022.10:g.29758984_29815476del
NM_000122.1(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1049A>G (p.His350Arg) rs78198234
NM_000157.4(GBA):c.115+1G>A rs104886460
NM_000157.4(GBA):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA):c.1289C>T (p.Pro430Leu)
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_000157.4(GBA):c.1309G>T (p.Val437Phe) rs121908310
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_000157.4(GBA):c.1506-1G>A rs1571964338
NM_000157.4(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000157.4(GBA):c.476G>A (p.Arg159Gln) rs79653797
NM_000157.4(GBA):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA):c.533del (p.Pro178fs) rs397518434
NM_000157.4(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_000157.4(GBA):c.870C>A (p.Phe290Leu) rs121908313
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000157.4(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_000288.4(PEX7):c.-45C>T rs267608252
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.130+1G>A rs267608253
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.364del (p.Thr122fs)
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs)
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.860_861del (p.Glu287fs)
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000382.2(ALDH3A2):c.153+5_386-408delins19
NM_000382.2(ALDH3A2):c.[733G>A;901G>C;906delT;909T>G]
NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter)
NM_000382.3(ALDH3A2):c.1108-1G>C
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) rs1567607328
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.371_373del (p.Gly124del)
NM_000382.3(ALDH3A2):c.471+1G>C
NM_000382.3(ALDH3A2):c.471+1del
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter)
NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu)
NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568
NM_000382.3(ALDH3A2):c.798+1del
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018
NM_000400.3(ERCC2):c.335G>A (p.Arg112His) rs121913020
NM_001005741.2(GBA):c.[1448T>C;1483G>C;1497G>C]
NM_001127.3(AP1B1):c.2335del (p.Leu779fs) rs1602683532
NM_001127.3(AP1B1):c.2374G>T (p.Glu792Ter) rs780548317
NM_001127.3(AP1B1):c.38-1G>A rs1602761438
NM_001127.3(AP1B1):c.430T>C (p.Cys144Arg) rs1602749299
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_001283.5(AP1S1):c.183-2A>G rs751430853
NM_001283.5(AP1S1):c.364dup (p.Asp122fs) rs767358930
NM_001289149.1(VPS33B):c.-123T>C rs121434385
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) rs875989846
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) rs875989847
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) rs387907363
NM_005094.4(SLC27A4):c.1208G>A (p.Cys403Tyr)
NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)
NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)
NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His) rs137853135
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr) rs137853132
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter) rs137853131
NM_005094.4(SLC27A4):c.716-1G>A rs1588559786
NM_005094.4(SLC27A4):c.739T>C (p.Ser247Pro) rs137853133
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg) rs137853134
NM_005094.4(SLC27A4):c.988-19A>G
NM_005094.4(SLC27A4):c.988-2A>G rs764922350
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988
NM_006623.4(PHGDH):c.357-1G>A rs766427173
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) rs587777774
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) rs587777775
NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881
NM_006846.3(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.3(SPINK5):c.1302+4A>T rs201269335
NM_006846.3(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.3(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.3(SPINK5):c.1888-1G>A rs759255682
NM_006846.3(SPINK5):c.1915_1916del (p.Leu639fs) rs1581096271
NM_006846.3(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.3(SPINK5):c.238dup (p.Ala80fs)
NM_006846.3(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.283-2A>T rs587777749
NM_006846.3(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225
NM_006846.3(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.3(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer) rs1581064755
NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.3(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.3(SPINK5):c.81+2T>A rs1131691490
NM_006846.3(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter)
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter)
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs)
NM_006846.4(SPINK5):c.2579del (p.Lys860fs) rs1362009010
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter)
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter)
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs)
NM_006846.4(SPINK5):c.374del (p.Thr125fs) rs1419297868
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter)
NM_006846.4(SPINK5):c.850del (p.Glu284fs) rs1581074967
NM_006846.4(SPINK5):c.882+1_882+3del
NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer)
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter) rs794726863
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) rs1603374549
NM_014908.3(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.3(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.3(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.3(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.3(DOLK):c.912G>T (p.Trp304Cys) rs1564545929
NM_015411.4(SUMF2):c.536-2del rs1584599101
NM_016006.6(ABHD5):c.134-2A>G rs1575600969
NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) rs104893676
NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) rs28939077
NM_016006.6(ABHD5):c.46_47del (p.Arg16fs) rs387906336
NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter)
NM_016006.6(ABHD5):c.594dup (p.Arg199fs) rs387906335
NM_016006.6(ABHD5):c.774-1G>A
NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys) rs28939078
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter)
NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg) rs1575607298
NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter) rs761087968
NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) rs104893675
NM_018668.4(VPS33B):c.1225+5G>C rs398122407
NM_018668.4(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.4(VPS33B):c.1498G>T (p.Glu500Ter) rs751858602
NM_018668.4(VPS33B):c.151C>T (p.Arg51Ter) rs11542638
NM_018668.4(VPS33B):c.1594C>T (p.Arg532Ter) rs121434383
NM_018668.4(VPS33B):c.1726T>C (p.Cys576Arg) rs1596348299
NM_018668.4(VPS33B):c.240-577_290-156del rs1555460030
NM_018668.4(VPS33B):c.403+2T>A rs769333468
NM_018668.4(VPS33B):c.700+1G>A rs794726658
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]
NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs) rs398122408
NM_018668.5(VPS33B):c.350delC rs1555459968
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) rs864309516
NM_021101.5(CLDN1):c.358del (p.Val120fs) rs864309517
NM_021978.4(ST14):c.2034del (p.Leu678fs) rs587777263
NM_021978.4(ST14):c.2269+1G>A rs587777262
NM_021978.4(ST14):c.2479G>A (p.Gly827Arg) rs137852931
NM_021978.4(ST14):c.3G>A (p.Met1Ile) rs137852932
NM_022067.4(VIPAS39):c.1179+1G>A rs1594895847
NM_022067.4(VIPAS39):c.1184G>A (p.Trp395Ter) rs1555364979
NM_022067.4(VIPAS39):c.20del (p.Asp7fs) rs1594929571
NM_022067.4(VIPAS39):c.2T>G (p.Met1Arg) rs267607172
NM_022067.4(VIPAS39):c.535C>T (p.Gln179Ter) rs267607173
NM_022067.4(VIPAS39):c.658C>T (p.Arg220Ter) rs200370925
NM_022067.4(VIPAS39):c.749_753del (p.Thr250fs) rs794726653
NM_022067.4(VIPAS39):c.871C>T (p.Gln291Ter) rs267607171
NM_022726.4(ELOVL4):c.215del (p.Pro72fs) rs746047636
NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter) rs387906916
NM_022726.4(ELOVL4):c.670-1G>A rs1561982219
NM_022726.4(ELOVL4):c.690del (p.Ile230fs) rs1131690772
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.178del (p.Val60fs) rs1564012541
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter) rs1008314756
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs) rs587776531
NM_138701.4(MPLKIP):c.148_152del (p.His50fs) rs878854339
NM_138701.4(MPLKIP):c.277del (p.Ser93fs) rs587776532
NM_138701.4(MPLKIP):c.339+1G>A rs869312900
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val) rs137853117
NM_138701.4(MPLKIP):c.505dup (p.Thr169fs) rs768342562
NM_139057.4(ADAMTS17):c.1721+1G>A rs749116256
NM_139057.4(ADAMTS17):c.2456-1dup rs387906291
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs) rs1555501030
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter) rs267606638
NM_139057.4(ADAMTS17):c.873+1G>T rs1160509052
NM_152295.4(TARS1):c.1912C>T (p.Arg638Ter) rs749888012
NM_152295.4(TARS1):c.680T>C (p.Leu227Pro) rs1579584983
NM_152295.4(TARS1):c.826A>G (p.Lys276Glu) rs1579585658
NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg) rs137852848
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852
NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro) rs137852853
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847
NM_182760.4(SUMF1):c.1076C>A (p.Ser359Ter) rs137852844
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
NM_182760.4(SUMF1):c.191del (p.Ser64fs)
NM_182760.4(SUMF1):c.1A>G (p.Met1Val) rs137852855
NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter) rs1575266034
NM_182760.4(SUMF1):c.266del (p.His88_Ser89insTer)
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys) rs1085307107
NM_182760.4(SUMF1):c.339dup (p.Ala114fs)
NM_182760.4(SUMF1):c.43G>T (p.Glu15Ter)
NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter)
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter)
NM_182760.4(SUMF1):c.519+5_519+8del rs775324176
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter) rs1553575867
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr) rs137852854
NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter) rs1575197564
NM_182760.4(SUMF1):c.661del (p.Ala221fs) rs770241913
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val) rs387906976
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845
NM_207118.2(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364
NM_207118.2(GTF2H5):c.62T>C (p.Leu21Pro) rs121434365
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter)
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys)
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter)
SNAP29, 1-BP DEL, 220G
SUMF1, 1-BP DEL, 243C
SUMF1, 1-BP DEL, 276C

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