ClinVar Miner

List of variants reported as likely benign for autosomal ichthyosis syndrome by Invitae

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 331
Download table as spreadsheet
HGVS dbSNP
NM_000288.4(PEX7):c.111G>A (p.Ala37=)
NM_000288.4(PEX7):c.117C>T (p.His39=)
NM_000288.4(PEX7):c.126C>T (p.Ile42=) rs1464741803
NM_000288.4(PEX7):c.130+10C>A rs794726882
NM_000288.4(PEX7):c.130+8G>C
NM_000288.4(PEX7):c.130+9G>A
NM_000288.4(PEX7):c.130+9G>C
NM_000288.4(PEX7):c.131-10T>C
NM_000288.4(PEX7):c.131-6C>G
NM_000288.4(PEX7):c.131-8C>G
NM_000288.4(PEX7):c.159A>G (p.Pro53=)
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932
NM_000288.4(PEX7):c.216T>C (p.Asp72=) rs1582732837
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)
NM_000288.4(PEX7):c.237C>T (p.Asn79=)
NM_000288.4(PEX7):c.240A>G (p.Glu80=)
NM_000288.4(PEX7):c.243T>C (p.His81=)
NM_000288.4(PEX7):c.258T>C (p.Cys86=)
NM_000288.4(PEX7):c.273G>A (p.Ser91=)
NM_000288.4(PEX7):c.27G>A (p.Ala9=)
NM_000288.4(PEX7):c.297A>G (p.Lys99=)
NM_000288.4(PEX7):c.300T>C (p.Ala100=)
NM_000288.4(PEX7):c.310C>T (p.Leu104=)
NM_000288.4(PEX7):c.315A>G (p.Gln105=) rs767901695
NM_000288.4(PEX7):c.315A>T (p.Gln105His)
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.340-8G>A rs528317074
NM_000288.4(PEX7):c.34C>T (p.Leu12=)
NM_000288.4(PEX7):c.408T>C (p.Thr136=)
NM_000288.4(PEX7):c.417+8A>G
NM_000288.4(PEX7):c.417+9G>A rs766476163
NM_000288.4(PEX7):c.418-10T>C
NM_000288.4(PEX7):c.418-4G>A rs199552223
NM_000288.4(PEX7):c.42G>A (p.Thr14=)
NM_000288.4(PEX7):c.447C>T (p.Cys149=)
NM_000288.4(PEX7):c.450C>T (p.Thr150=)
NM_000288.4(PEX7):c.462T>C (p.His154=)
NM_000288.4(PEX7):c.465A>G (p.Glu155=) rs1582745048
NM_000288.4(PEX7):c.480C>T (p.Ser160=)
NM_000288.4(PEX7):c.504T>C (p.Pro168=)
NM_000288.4(PEX7):c.516T>C (p.Ala172=)
NM_000288.4(PEX7):c.516T>G (p.Ala172=)
NM_000288.4(PEX7):c.519A>T (p.Ser173=)
NM_000288.4(PEX7):c.526+19A>G
NM_000288.4(PEX7):c.527-5A>G
NM_000288.4(PEX7):c.561A>G (p.Ala187=)
NM_000288.4(PEX7):c.570A>G (p.Val190=)
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851
NM_000288.4(PEX7):c.57C>T (p.Gly19=)
NM_000288.4(PEX7):c.60C>T (p.Tyr20=)
NM_000288.4(PEX7):c.630T>C (p.Asn210=) rs1466368201
NM_000288.4(PEX7):c.63C>G (p.Ala21=)
NM_000288.4(PEX7):c.63C>T (p.Ala21=)
NM_000288.4(PEX7):c.640C>T (p.Leu214=) rs1582759870
NM_000288.4(PEX7):c.648C>G (p.Thr216=)
NM_000288.4(PEX7):c.648C>T (p.Thr216=)
NM_000288.4(PEX7):c.654G>T (p.Ala218=) rs1414537422
NM_000288.4(PEX7):c.672A>G (p.Arg224=) rs747145944
NM_000288.4(PEX7):c.681C>T (p.Asp227=)
NM_000288.4(PEX7):c.685A>C (p.Arg229=)
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.726C>T (p.Thr242=)
NM_000288.4(PEX7):c.72C>T (p.Phe24=)
NM_000288.4(PEX7):c.739A>C (p.Arg247=)
NM_000288.4(PEX7):c.741G>A (p.Arg247=)
NM_000288.4(PEX7):c.748-4G>T rs74658757
NM_000288.4(PEX7):c.748-9T>C
NM_000288.4(PEX7):c.759T>C (p.Phe253=)
NM_000288.4(PEX7):c.75C>T (p.Ser25=)
NM_000288.4(PEX7):c.777C>G (p.Ala259=)
NM_000288.4(PEX7):c.786G>A (p.Ser262=)
NM_000288.4(PEX7):c.789T>C (p.Tyr263=)
NM_000288.4(PEX7):c.78G>A (p.Pro26=)
NM_000288.4(PEX7):c.803+14dup
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.81C>T (p.Tyr27=)
NM_000288.4(PEX7):c.82C>T (p.Leu28=)
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.867T>C (p.Thr289=) rs936175997
NM_000288.4(PEX7):c.903+7G>T rs1227993935
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.90C>A (p.Gly30=)
NM_000288.4(PEX7):c.957T>C (p.Leu319=)
NM_000288.4(PEX7):c.971G>A (p.Ter324=)
NM_000288.4(PEX7):c.9G>C (p.Ala3=)
NM_006846.3(SPINK5):c.1431-10T>G rs759079847
NM_006846.3(SPINK5):c.1480-10C>A rs375718943
NM_006846.3(SPINK5):c.1539G>A (p.Glu513=) rs184512279
NM_006846.3(SPINK5):c.1607+7G>T rs541432320
NM_006846.3(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576
NM_006846.3(SPINK5):c.2015+8C>A rs1457469450
NM_006846.3(SPINK5):c.2124T>C (p.Ala708=) rs200884153
NM_006846.3(SPINK5):c.2241-4C>G rs1554106267
NM_006846.3(SPINK5):c.2739+10del rs769519367
NM_006846.3(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775
NM_006846.3(SPINK5):c.3189C>T (p.Asp1063=) rs200751535
NM_006846.3(SPINK5):c.456G>A (p.Lys152=) rs777350307
NM_006846.3(SPINK5):c.598C>T (p.Leu200=) rs114784178
NM_006846.3(SPINK5):c.750C>T (p.Asp250=) rs199793551
NM_006846.3(SPINK5):c.799_800delinsAG (p.Gln267Arg) rs1581074856
NM_006846.4(SPINK5):c.1041T>A (p.Ala347=)
NM_006846.4(SPINK5):c.105A>T (p.Ala35=)
NM_006846.4(SPINK5):c.1071T>G (p.Ser357=) rs561354824
NM_006846.4(SPINK5):c.1093-4G>A rs754019195
NM_006846.4(SPINK5):c.1093-6C>T
NM_006846.4(SPINK5):c.1134A>G (p.Lys378=)
NM_006846.4(SPINK5):c.1218C>T (p.Phe406=) rs1581080925
NM_006846.4(SPINK5):c.1221-8T>C
NM_006846.4(SPINK5):c.1221-9C>A
NM_006846.4(SPINK5):c.1272A>G (p.Lys424=) rs1581081951
NM_006846.4(SPINK5):c.1284G>A (p.Lys428=)
NM_006846.4(SPINK5):c.1379G>T (p.Gly460Val)
NM_006846.4(SPINK5):c.1386T>C (p.Asp462=)
NM_006846.4(SPINK5):c.1401C>T (p.Gly467=) rs374181561
NM_006846.4(SPINK5):c.1430+8G>C
NM_006846.4(SPINK5):c.1461T>C (p.Ala487=) rs750918436
NM_006846.4(SPINK5):c.1557C>T (p.Gly519=)
NM_006846.4(SPINK5):c.1671A>G (p.Lys557=) rs1581089650
NM_006846.4(SPINK5):c.1704T>C (p.Ser568=)
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667
NM_006846.4(SPINK5):c.1771C>T (p.Leu591=)
NM_006846.4(SPINK5):c.1788C>T (p.His596=)
NM_006846.4(SPINK5):c.1821-4A>G rs1211543982
NM_006846.4(SPINK5):c.1821-7C>G
NM_006846.4(SPINK5):c.1881T>A (p.Ala627=)
NM_006846.4(SPINK5):c.1896C>T (p.Cys632=) rs764541508
NM_006846.4(SPINK5):c.195G>A (p.Thr65=)
NM_006846.4(SPINK5):c.195G>T (p.Thr65=) rs370397387
NM_006846.4(SPINK5):c.1971T>C (p.Asp657=)
NM_006846.4(SPINK5):c.2115C>T (p.Asp705=)
NM_006846.4(SPINK5):c.2127G>A (p.Glu709=) rs369323668
NM_006846.4(SPINK5):c.2190T>C (p.Asp730=)
NM_006846.4(SPINK5):c.2205G>A (p.Ser735=) rs768901845
NM_006846.4(SPINK5):c.2241-18C>T
NM_006846.4(SPINK5):c.2319A>G (p.Thr773=)
NM_006846.4(SPINK5):c.2325T>C (p.Asp775=)
NM_006846.4(SPINK5):c.2349T>C (p.Asn783=) rs1356587554
NM_006846.4(SPINK5):c.2415T>C (p.Asn805=)
NM_006846.4(SPINK5):c.2442-4C>A
NM_006846.4(SPINK5):c.2514A>G (p.Thr838=)
NM_006846.4(SPINK5):c.2526C>T (p.Ser842=)
NM_006846.4(SPINK5):c.2538+8A>G
NM_006846.4(SPINK5):c.2539-4G>A
NM_006846.4(SPINK5):c.2640T>C (p.Asn880=)
NM_006846.4(SPINK5):c.2688A>G (p.Arg896=)
NM_006846.4(SPINK5):c.2700T>C (p.Asp900=)
NM_006846.4(SPINK5):c.2814C>T (p.His938=)
NM_006846.4(SPINK5):c.2826A>C (p.Gly942=)
NM_006846.4(SPINK5):c.3042T>C (p.Cys1014=) rs1237574831
NM_006846.4(SPINK5):c.3048C>T (p.Asp1016=)
NM_006846.4(SPINK5):c.3093C>T (p.Asn1031=)
NM_006846.4(SPINK5):c.3186+9A>T rs375728523
NM_006846.4(SPINK5):c.336T>G (p.Pro112=)
NM_006846.4(SPINK5):c.402T>C (p.Ala134=) rs371877583
NM_006846.4(SPINK5):c.450A>G (p.Glu150=)
NM_006846.4(SPINK5):c.468A>G (p.Pro156=)
NM_006846.4(SPINK5):c.474+7T>A
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084
NM_006846.4(SPINK5):c.528A>C (p.Thr176=)
NM_006846.4(SPINK5):c.602+10A>C rs1444836729
NM_006846.4(SPINK5):c.663A>G (p.Glu221=)
NM_006846.4(SPINK5):c.666+10C>T rs773205014
NM_006846.4(SPINK5):c.744C>G (p.Gly248=)
NM_006846.4(SPINK5):c.81+10G>A
NM_006846.4(SPINK5):c.984C>T (p.Asn328=)
NM_006846.4(SPINK5):c.999T>C (p.Cys333=)
NM_014908.3(DOLK):c.1114T>A (p.Phe372Ile) rs146395561
NM_014908.3(DOLK):c.1149T>C (p.Pro383=) rs1554826752
NM_014908.3(DOLK):c.114A>G (p.Val38=) rs142000757
NM_014908.3(DOLK):c.1446G>A (p.Ala482=) rs201027607
NM_014908.3(DOLK):c.159C>G (p.Ala53=) rs199857223
NM_014908.3(DOLK):c.192A>G (p.Leu64=) rs563156233
NM_014908.3(DOLK):c.210C>G (p.Val70=) rs750368652
NM_014908.3(DOLK):c.495C>A (p.Ile165=) rs149177994
NM_014908.3(DOLK):c.52G>A (p.Gly18Arg) rs777998210
NM_014908.3(DOLK):c.633C>T (p.Arg211=) rs147647278
NM_014908.3(DOLK):c.700A>G (p.Met234Val) rs139787271
NM_014908.3(DOLK):c.807T>C (p.Gly269=) rs769294980
NM_014908.3(DOLK):c.919C>T (p.Leu307=) rs927774250
NM_014908.3(DOLK):c.975C>A (p.Ser325=) rs149462670
NM_014908.4(DOLK):c.1005C>T (p.Ile335=)
NM_014908.4(DOLK):c.1011A>G (p.Arg337=) rs375939944
NM_014908.4(DOLK):c.1068G>A (p.Arg356=)
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255
NM_014908.4(DOLK):c.1086C>T (p.Ala362=) rs751762161
NM_014908.4(DOLK):c.1092T>G (p.Thr364=) rs1280785615
NM_014908.4(DOLK):c.1098C>T (p.Cys366=) rs1588262054
NM_014908.4(DOLK):c.1107C>T (p.Val369=)
NM_014908.4(DOLK):c.1143C>T (p.Ile381=)
NM_014908.4(DOLK):c.1176G>T (p.Leu392=)
NM_014908.4(DOLK):c.1221A>G (p.Thr407=) rs973710719
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.4(DOLK):c.129G>C (p.Ser43=)
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523
NM_014908.4(DOLK):c.1359G>A (p.Val453=)
NM_014908.4(DOLK):c.1362C>T (p.Ala454=)
NM_014908.4(DOLK):c.1380C>T (p.Thr460=)
NM_014908.4(DOLK):c.1395C>T (p.Arg465=)
NM_014908.4(DOLK):c.1434A>G (p.Thr478=)
NM_014908.4(DOLK):c.1512T>C (p.Ala504=) rs183735415
NM_014908.4(DOLK):c.1527C>T (p.Ser509=) rs746460508
NM_014908.4(DOLK):c.1557C>T (p.Tyr519=) rs367609050
NM_014908.4(DOLK):c.1597C>T (p.Leu533=)
NM_014908.4(DOLK):c.177G>A (p.Lys59=) rs747110969
NM_014908.4(DOLK):c.184C>A (p.Arg62=) rs533764998
NM_014908.4(DOLK):c.244T>C (p.Leu82=) rs1588262895
NM_014908.4(DOLK):c.24G>A (p.Pro8=)
NM_014908.4(DOLK):c.288G>A (p.Lys96=) rs771259120
NM_014908.4(DOLK):c.33G>A (p.Gly11=) rs375483505
NM_014908.4(DOLK):c.380T>C (p.Val127Ala)
NM_014908.4(DOLK):c.387G>A (p.Ala129=) rs761831947
NM_014908.4(DOLK):c.387G>C (p.Ala129=)
NM_014908.4(DOLK):c.426C>T (p.Val142=)
NM_014908.4(DOLK):c.435C>T (p.Gly145=) rs781307203
NM_014908.4(DOLK):c.501C>T (p.Val167=) rs372024402
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436
NM_014908.4(DOLK):c.679C>T (p.Leu227=)
NM_014908.4(DOLK):c.747C>T (p.Asp249=)
NM_014908.4(DOLK):c.819C>T (p.Pro273=)
NM_014908.4(DOLK):c.885C>T (p.Asp295=) rs762558659
NM_014908.4(DOLK):c.888C>G (p.Thr296=)
NM_014908.4(DOLK):c.894C>T (p.Ile298=) rs554098531
NM_014908.4(DOLK):c.909T>C (p.Tyr303=) rs1244007975
NM_014908.4(DOLK):c.90G>A (p.Val30=)
NM_014908.4(DOLK):c.916C>T (p.Leu306=) rs1290357070
NM_014908.4(DOLK):c.975C>T (p.Ser325=) rs149462670
NM_014908.4(DOLK):c.999C>T (p.Pro333=)
NM_058179.4(PSAT1):c.270C>G (p.Leu90=) rs775726256
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685
NM_058179.4(PSAT1):c.369C>T (p.Ile123=) rs762328288
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) rs370268538
NM_058179.4(PSAT1):c.456C>T (p.Cys152=)
NM_058179.4(PSAT1):c.468G>A (p.Thr156=) rs200962308
NM_058179.4(PSAT1):c.792C>T (p.Ala264=) rs371935677
NM_058179.4(PSAT1):c.795G>A (p.Ala265=) rs184256039
NM_058179.4(PSAT1):c.869+9A>G rs368990190
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg) rs148080212
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905
NM_182760.4(SUMF1):c.1002C>T (p.Tyr334=)
NM_182760.4(SUMF1):c.1014+7C>T
NM_182760.4(SUMF1):c.1014+9T>C
NM_182760.4(SUMF1):c.1015-10C>G
NM_182760.4(SUMF1):c.1015-10C>T
NM_182760.4(SUMF1):c.1015-3_1015-2del
NM_182760.4(SUMF1):c.1015-4A>G
NM_182760.4(SUMF1):c.1015-5C>T
NM_182760.4(SUMF1):c.102C>T (p.Ser34=)
NM_182760.4(SUMF1):c.1065T>C (p.Asp355=)
NM_182760.4(SUMF1):c.1083G>C (p.Leu361=)
NM_182760.4(SUMF1):c.1107C>T (p.Arg369=)
NM_182760.4(SUMF1):c.117C>T (p.Thr39=)
NM_182760.4(SUMF1):c.129G>C (p.Ala43=) rs1235708576
NM_182760.4(SUMF1):c.12C>T (p.Pro4=)
NM_182760.4(SUMF1):c.147T>C (p.Ser49=)
NM_182760.4(SUMF1):c.168G>A (p.Gln56=) rs1575266526
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.180C>T (p.Ala60=)
NM_182760.4(SUMF1):c.183T>C (p.His61=)
NM_182760.4(SUMF1):c.18A>G (p.Leu6=)
NM_182760.4(SUMF1):c.192G>C (p.Ser64=)
NM_182760.4(SUMF1):c.210C>T (p.Tyr70=)
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297
NM_182760.4(SUMF1):c.216G>A (p.Arg72=)
NM_182760.4(SUMF1):c.234C>A (p.Gly78=) rs763565087
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.243C>G (p.Pro81=)
NM_182760.4(SUMF1):c.258C>A (p.Leu86=)
NM_182760.4(SUMF1):c.270+10C>G
NM_182760.4(SUMF1):c.271-7A>G rs371283922
NM_182760.4(SUMF1):c.276C>A (p.Val92=)
NM_182760.4(SUMF1):c.324A>T (p.Ile108=)
NM_182760.4(SUMF1):c.348G>A (p.Ala116=)
NM_182760.4(SUMF1):c.369C>A (p.Ala123=)
NM_182760.4(SUMF1):c.405A>G (p.Glu135=)
NM_182760.4(SUMF1):c.426A>C (p.Ser142=)
NM_182760.4(SUMF1):c.432C>T (p.Gly144=)
NM_182760.4(SUMF1):c.444+10T>C
NM_182760.4(SUMF1):c.445-8C>T
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
NM_182760.4(SUMF1):c.450G>A (p.Glu150=)
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)
NM_182760.4(SUMF1):c.484T>C (p.Leu162=)
NM_182760.4(SUMF1):c.48G>C (p.Leu16=)
NM_182760.4(SUMF1):c.510T>C (p.Ile170=)
NM_182760.4(SUMF1):c.519+7A>T
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361
NM_182760.4(SUMF1):c.525A>G (p.Ala175=)
NM_182760.4(SUMF1):c.528T>C (p.Ala176=) rs138269123
NM_182760.4(SUMF1):c.570C>T (p.His190=)
NM_182760.4(SUMF1):c.602+10G>T
NM_182760.4(SUMF1):c.602+7C>G
NM_182760.4(SUMF1):c.603-5C>T
NM_182760.4(SUMF1):c.603-9C>T
NM_182760.4(SUMF1):c.621C>T (p.Leu207=)
NM_182760.4(SUMF1):c.624T>C (p.His208=)
NM_182760.4(SUMF1):c.627G>A (p.Val209=)
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171
NM_182760.4(SUMF1):c.630C>T (p.Ser210=)
NM_182760.4(SUMF1):c.648C>G (p.Ala216=) rs1470203634
NM_182760.4(SUMF1):c.663A>C (p.Ala221=)
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182760.4(SUMF1):c.675G>A (p.Leu225=)
NM_182760.4(SUMF1):c.675G>T (p.Leu225=)
NM_182760.4(SUMF1):c.681G>A (p.Thr227=)
NM_182760.4(SUMF1):c.684A>G (p.Glu228=)
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser) rs138045351
NM_182760.4(SUMF1):c.726-10C>T
NM_182760.4(SUMF1):c.748C>T (p.Leu250=)
NM_182760.4(SUMF1):c.750G>A (p.Leu250=)
NM_182760.4(SUMF1):c.75C>T (p.Leu25=)
NM_182760.4(SUMF1):c.762C>A (p.Gly254=)
NM_182760.4(SUMF1):c.765G>A (p.Gln255=)
NM_182760.4(SUMF1):c.78G>A (p.Ser26=)
NM_182760.4(SUMF1):c.798G>A (p.Pro266=)
NM_182760.4(SUMF1):c.801G>C (p.Val267=)
NM_182760.4(SUMF1):c.801G>T (p.Val267=)
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.837G>A (p.Ala279=) rs150925824
NM_182760.4(SUMF1):c.841-6T>C
NM_182760.4(SUMF1):c.843T>C (p.Val281=)
NM_182760.4(SUMF1):c.849C>T (p.Ala283=)
NM_182760.4(SUMF1):c.84G>T (p.Leu28=)
NM_182760.4(SUMF1):c.873A>G (p.Leu291=)
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187
NM_182760.4(SUMF1):c.966T>C (p.Pro322=)
NM_182760.4(SUMF1):c.999C>G (p.Ser333=)
NM_182760.4(SUMF1):c.9G>A (p.Ala3=) rs755989487

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