ClinVar Miner

List of variants in gene LRSAM1 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 280
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001005373.4(LRSAM1):c.469A>G (p.Ile157Val) rs150292099 0.00105
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922 0.00063
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394 0.00045
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00039
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379 0.00039
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His) rs140808447 0.00035
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346 0.00031
NM_001005373.4(LRSAM1):c.252+16C>G rs367844312 0.00031
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=) rs199887448 0.00029
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=) rs373990000 0.00024
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210 0.00020
NM_001005373.4(LRSAM1):c.570G>A (p.Arg190=) rs545814024 0.00020
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=) rs140066362 0.00019
NM_001005373.4(LRSAM1):c.*590T>C rs139260397 0.00017
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835 0.00017
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114 0.00015
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=) rs771491533 0.00014
NM_001005373.4(LRSAM1):c.1259+20T>C rs527535011 0.00011
NM_001005373.4(LRSAM1):c.267C>T (p.His89=) rs148528063 0.00011
NM_001005373.4(LRSAM1):c.585C>T (p.Ala195=) rs144645671 0.00011
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00011
NM_001005373.4(LRSAM1):c.1699-16C>T rs201702419 0.00010
NM_001005373.4(LRSAM1):c.175-18G>A rs752028583 0.00010
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877 0.00009
NM_001005373.4(LRSAM1):c.1422+15T>A rs372509526 0.00009
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=) rs199997686 0.00009
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911 0.00009
NM_001005373.4(LRSAM1):c.1830+20A>G rs199932024 0.00009
NM_001005373.4(LRSAM1):c.1912+13C>T rs201671353 0.00009
NM_001005373.4(LRSAM1):c.2046+16T>C rs753575542 0.00009
NM_001005373.4(LRSAM1):c.253-20C>T rs764243243 0.00009
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=) rs147205387 0.00009
NM_001005373.4(LRSAM1):c.993G>A (p.Thr331=) rs368674859 0.00009
NM_001005373.4(LRSAM1):c.1830+14G>A rs768288133 0.00007
NM_001005373.4(LRSAM1):c.339G>A (p.Arg113=) rs146613642 0.00007
NM_001005373.4(LRSAM1):c.1074G>A (p.Ser358=) rs776894109 0.00006
NM_001005373.4(LRSAM1):c.1347+20C>T rs766326390 0.00006
NM_001005373.4(LRSAM1):c.1504-4G>A rs370872133 0.00006
NM_001005373.4(LRSAM1):c.175-19C>T rs758774140 0.00006
NM_001005373.4(LRSAM1):c.1980G>A (p.Arg660=) rs147805183 0.00006
NM_001005373.4(LRSAM1):c.2028C>T (p.Val676=) rs566890772 0.00006
NM_001005373.4(LRSAM1):c.252+8G>A rs751872462 0.00005
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His) rs368689811 0.00005
NM_001005373.4(LRSAM1):c.529-6C>T rs754162095 0.00005
NM_001005373.4(LRSAM1):c.619+13C>T rs148704769 0.00005
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp) rs763390117 0.00004
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004 0.00004
NM_001005373.4(LRSAM1):c.1632G>A (p.Gln544=) rs762712712 0.00004
NM_001005373.4(LRSAM1):c.2047-15G>A rs367860563 0.00004
NM_001005373.4(LRSAM1):c.231C>T (p.Leu77=) rs149769300 0.00004
NM_001005373.4(LRSAM1):c.294C>T (p.Asp98=) rs79514284 0.00004
NM_001005373.4(LRSAM1):c.543C>T (p.Asp181=) rs770410548 0.00004
NM_001005373.4(LRSAM1):c.619+14G>A rs770398029 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.6G>A (p.Pro2=) rs572330792 0.00004
NM_001005373.4(LRSAM1):c.822G>A (p.Leu274=) rs146079606 0.00004
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=) rs200527839 0.00004
NM_001005373.4(LRSAM1):c.129+20G>C rs766476460 0.00003
NM_001005373.4(LRSAM1):c.1504-5C>G rs377190920 0.00003
NM_001005373.4(LRSAM1):c.1587C>T (p.Leu529=) rs201588177 0.00003
NM_001005373.4(LRSAM1):c.1759C>T (p.Leu587=) rs936559080 0.00003
NM_001005373.4(LRSAM1):c.2062C>A (p.Leu688Ile) rs765956865 0.00003
NM_001005373.4(LRSAM1):c.498G>A (p.Pro166=) rs140809697 0.00003
NM_001005373.4(LRSAM1):c.546C>T (p.Ala182=) rs956107977 0.00003
NM_001005373.4(LRSAM1):c.619+11G>A rs370502826 0.00003
NM_001005373.4(LRSAM1):c.684C>T (p.Ile228=) rs376671005 0.00003
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=) rs771510127 0.00003
NM_001005373.4(LRSAM1):c.1059C>T (p.Ser353=) rs772067610 0.00002
NM_001005373.4(LRSAM1):c.1159+13A>T rs756667241 0.00002
NM_001005373.4(LRSAM1):c.120G>A (p.Glu40=) rs775125689 0.00002
NM_001005373.4(LRSAM1):c.1341G>A (p.Leu447=) rs781611387 0.00002
NM_001005373.4(LRSAM1):c.1422+7G>A rs769842908 0.00002
NM_001005373.4(LRSAM1):c.1764C>A (p.Pro588=) rs749407044 0.00002
NM_001005373.4(LRSAM1):c.1773G>A (p.Ala591=) rs377678883 0.00002
NM_001005373.4(LRSAM1):c.1830+13C>T rs374449653 0.00002
NM_001005373.4(LRSAM1):c.717G>A (p.Thr239=) rs769930277 0.00002
NM_001005373.4(LRSAM1):c.840G>A (p.Glu280=) rs199947399 0.00002
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=) rs886063456 0.00001
NM_001005373.4(LRSAM1):c.102C>T (p.Leu34=) rs762785076 0.00001
NM_001005373.4(LRSAM1):c.1043+18G>A rs775108432 0.00001
NM_001005373.4(LRSAM1):c.1152C>T (p.Asp384=) rs760074620 0.00001
NM_001005373.4(LRSAM1):c.1160-7C>T rs377144291 0.00001
NM_001005373.4(LRSAM1):c.1161C>T (p.Ser387=) rs763903913 0.00001
NM_001005373.4(LRSAM1):c.1236C>T (p.Asn412=) rs186139632 0.00001
NM_001005373.4(LRSAM1):c.1245G>A (p.Gln415=) rs757101883 0.00001
NM_001005373.4(LRSAM1):c.1266C>T (p.Ala422=) rs144095352 0.00001
NM_001005373.4(LRSAM1):c.1329C>T (p.Ile443=) rs771415278 0.00001
NM_001005373.4(LRSAM1):c.1348-6T>A rs200130803 0.00001
NM_001005373.4(LRSAM1):c.1423-13G>A rs751110136 0.00001
NM_001005373.4(LRSAM1):c.1453C>T (p.Leu485=) rs780956904 0.00001
NM_001005373.4(LRSAM1):c.1503+8G>C rs761964249 0.00001
NM_001005373.4(LRSAM1):c.1572G>A (p.Gln524=) rs746202048 0.00001
NM_001005373.4(LRSAM1):c.1599+17T>G rs368471851 0.00001
NM_001005373.4(LRSAM1):c.1599+18G>C rs1406274226 0.00001
NM_001005373.4(LRSAM1):c.1698+20G>A rs749662590 0.00001
NM_001005373.4(LRSAM1):c.1794C>T (p.Asp598=) rs758898673 0.00001
NM_001005373.4(LRSAM1):c.1836C>T (p.Gly612=) rs577254396 0.00001
NM_001005373.4(LRSAM1):c.1885C>T (p.Leu629=) rs764391717 0.00001
NM_001005373.4(LRSAM1):c.1912+10C>T rs1473393318 0.00001
NM_001005373.4(LRSAM1):c.192G>A (p.Thr64=) rs778625125 0.00001
NM_001005373.4(LRSAM1):c.2016C>G (p.Ala672=) rs1229154466 0.00001
NM_001005373.4(LRSAM1):c.2094G>A (p.Gln698=) rs752678501 0.00001
NM_001005373.4(LRSAM1):c.2140G>A (p.Ala714Thr) rs527668507 0.00001
NM_001005373.4(LRSAM1):c.252+10C>A rs765686374 0.00001
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730 0.00001
NM_001005373.4(LRSAM1):c.300G>A (p.Leu100=) rs758812956 0.00001
NM_001005373.4(LRSAM1):c.330C>T (p.Asn110=) rs374848673 0.00001
NM_001005373.4(LRSAM1):c.407-10G>A rs916806387 0.00001
NM_001005373.4(LRSAM1):c.435C>T (p.Thr145=) rs781577020 0.00001
NM_001005373.4(LRSAM1):c.513C>T (p.His171=) rs757426906 0.00001
NM_001005373.4(LRSAM1):c.564G>A (p.Pro188=) rs774399646 0.00001
NM_001005373.4(LRSAM1):c.567G>A (p.Pro189=) rs761890031 0.00001
NM_001005373.4(LRSAM1):c.63G>A (p.Gln21=) rs1057521344 0.00001
NM_001005373.4(LRSAM1):c.702C>T (p.Ser234=) rs777755879 0.00001
NM_001005373.4(LRSAM1):c.75A>C (p.Ala25=) rs754374008 0.00001
NM_001005373.4(LRSAM1):c.780+13C>T rs1451126007 0.00001
NM_001005373.4(LRSAM1):c.781-17G>A rs202170746 0.00001
NM_001005373.4(LRSAM1):c.786G>A (p.Gln262=) rs748439646 0.00001
NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=) rs548270854 0.00001
NM_001005373.4(LRSAM1):c.849G>A (p.Gln283=) rs375636993 0.00001
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=) rs940085400 0.00001
NM_001005373.4(LRSAM1):c.*105del rs200242834
NM_001005373.4(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=) rs766701971
NM_001005373.4(LRSAM1):c.1043+18G>C
NM_001005373.4(LRSAM1):c.1044-16A>G
NM_001005373.4(LRSAM1):c.1044-20T>C rs1835521444
NM_001005373.4(LRSAM1):c.1071A>G (p.Lys357=) rs1588122290
NM_001005373.4(LRSAM1):c.1083T>C (p.Asn361=) rs1835524969
NM_001005373.4(LRSAM1):c.1088+19G>A
NM_001005373.4(LRSAM1):c.1088+9T>C rs753087190
NM_001005373.4(LRSAM1):c.1089-11T>A
NM_001005373.4(LRSAM1):c.1093A>C (p.Arg365=) rs2132073036
NM_001005373.4(LRSAM1):c.1119C>A (p.Thr373=) rs1835594332
NM_001005373.4(LRSAM1):c.1159+16G>A
NM_001005373.4(LRSAM1):c.1203C>T (p.Leu401=) rs774735924
NM_001005373.4(LRSAM1):c.1218C>T (p.Tyr406=)
NM_001005373.4(LRSAM1):c.1251C>A (p.Ala417=)
NM_001005373.4(LRSAM1):c.1259+12A>G
NM_001005373.4(LRSAM1):c.1259+16G>T
NM_001005373.4(LRSAM1):c.1259+19G>A
NM_001005373.4(LRSAM1):c.1260-13_1260-12del
NM_001005373.4(LRSAM1):c.126A>G (p.Ser42=) rs1404495701
NM_001005373.4(LRSAM1):c.1281A>G (p.Arg427=)
NM_001005373.4(LRSAM1):c.129+16T>C
NM_001005373.4(LRSAM1):c.1299G>A (p.Ser433=)
NM_001005373.4(LRSAM1):c.130-19C>T
NM_001005373.4(LRSAM1):c.1347+10C>T
NM_001005373.4(LRSAM1):c.1347+8_1347+20del
NM_001005373.4(LRSAM1):c.1350C>T (p.Ser450=) rs369401880
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr) rs202166023
NM_001005373.4(LRSAM1):c.1371C>T (p.Phe457=)
NM_001005373.4(LRSAM1):c.1377A>G (p.Ala459=)
NM_001005373.4(LRSAM1):c.1398G>A (p.Leu466=)
NM_001005373.4(LRSAM1):c.1422+14C>T
NM_001005373.4(LRSAM1):c.1440T>C (p.Thr480=)
NM_001005373.4(LRSAM1):c.1440T>G (p.Thr480=) rs756804646
NM_001005373.4(LRSAM1):c.1503+13C>T
NM_001005373.4(LRSAM1):c.1503+14C>T
NM_001005373.4(LRSAM1):c.1504-16G>T
NM_001005373.4(LRSAM1):c.1504-5C>T
NM_001005373.4(LRSAM1):c.1504-8G>C rs1295097741
NM_001005373.4(LRSAM1):c.1518G>A (p.Glu506=) rs199703262
NM_001005373.4(LRSAM1):c.153A>C (p.Thr51=) rs2131991694
NM_001005373.4(LRSAM1):c.153A>G (p.Thr51=)
NM_001005373.4(LRSAM1):c.1557C>T (p.Leu519=) rs1352690878
NM_001005373.4(LRSAM1):c.1573C>A (p.Arg525=) rs1442123730
NM_001005373.4(LRSAM1):c.1581A>G (p.Glu527=) rs1835985595
NM_001005373.4(LRSAM1):c.1599+17T>C rs368471851
NM_001005373.4(LRSAM1):c.1599+19T>C
NM_001005373.4(LRSAM1):c.1599+20G>A rs2132103431
NM_001005373.4(LRSAM1):c.1599+9_1599+10del rs1588134360
NM_001005373.4(LRSAM1):c.1602G>A (p.Thr534=) rs766032321
NM_001005373.4(LRSAM1):c.1665T>G (p.Leu555=)
NM_001005373.4(LRSAM1):c.1680C>T (p.Pro560=)
NM_001005373.4(LRSAM1):c.1698+14G>A
NM_001005373.4(LRSAM1):c.1699-10T>C
NM_001005373.4(LRSAM1):c.1701A>G (p.Glu567=) rs2132112222
NM_001005373.4(LRSAM1):c.174+33_174+34insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGCCCGCCACTCCGCCCGGCTAATTTTATTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTCAGAGACTTTCTT rs2131991830
NM_001005373.4(LRSAM1):c.175-12C>T rs1167547039
NM_001005373.4(LRSAM1):c.175-18G>T rs752028583
NM_001005373.4(LRSAM1):c.175-6A>G
NM_001005373.4(LRSAM1):c.1782C>T (p.Arg594=) rs753979299
NM_001005373.4(LRSAM1):c.1789C>T (p.Leu597=) rs1588137639
NM_001005373.4(LRSAM1):c.1830+8G>A
NM_001005373.4(LRSAM1):c.1831-13T>C rs2132116158
NM_001005373.4(LRSAM1):c.1831-15C>T
NM_001005373.4(LRSAM1):c.1831-19C>T
NM_001005373.4(LRSAM1):c.1878C>T (p.Val626=) rs2132116337
NM_001005373.4(LRSAM1):c.1913-12T>C
NM_001005373.4(LRSAM1):c.1913-20T>G rs2132127818
NM_001005373.4(LRSAM1):c.1913-4del
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_001005373.4(LRSAM1):c.1938C>T (p.Val646=)
NM_001005373.4(LRSAM1):c.1941C>G (p.Val647=) rs1000632610
NM_001005373.4(LRSAM1):c.1941C>T (p.Val647=) rs1000632610
NM_001005373.4(LRSAM1):c.1953C>A (p.Ala651=)
NM_001005373.4(LRSAM1):c.1962G>A (p.Glu654=)
NM_001005373.4(LRSAM1):c.198C>T (p.His66=)
NM_001005373.4(LRSAM1):c.1995T>C (p.Pro665=) rs974205215
NM_001005373.4(LRSAM1):c.2010G>A (p.Val670=)
NM_001005373.4(LRSAM1):c.2028C>A (p.Val676=) rs566890772
NM_001005373.4(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_001005373.4(LRSAM1):c.2037G>A (p.Leu679=)
NM_001005373.4(LRSAM1):c.2046+10G>A rs2132128662
NM_001005373.4(LRSAM1):c.2046+3_2046+6dup rs1294543474
NM_001005373.4(LRSAM1):c.2046+9G>A
NM_001005373.4(LRSAM1):c.2047-16C>T
NM_001005373.4(LRSAM1):c.2047-4C>T
NM_001005373.4(LRSAM1):c.2058C>T (p.Ile686=)
NM_001005373.4(LRSAM1):c.2076C>T (p.His692=)
NM_001005373.4(LRSAM1):c.207C>T (p.Ser69=) rs1273717712
NM_001005373.4(LRSAM1):c.2103G>A (p.Gln701=) rs777789178
NM_001005373.4(LRSAM1):c.2112C>T (p.Arg704=)
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=) rs1410005477
NM_001005373.4(LRSAM1):c.2121G>T (p.Pro707=) rs570732998
NM_001005373.4(LRSAM1):c.234G>A (p.Leu78=) rs566623718
NM_001005373.4(LRSAM1):c.246C>T (p.Thr82=) rs1168027198
NM_001005373.4(LRSAM1):c.252+10C>T rs765686374
NM_001005373.4(LRSAM1):c.252+9C>T rs1834560472
NM_001005373.4(LRSAM1):c.253-17G>T
NM_001005373.4(LRSAM1):c.253-9C>T rs199925705
NM_001005373.4(LRSAM1):c.258A>G (p.Leu86=) rs1259389825
NM_001005373.4(LRSAM1):c.321+14A>G rs2132003521
NM_001005373.4(LRSAM1):c.322-17C>T
NM_001005373.4(LRSAM1):c.322-9C>T
NM_001005373.4(LRSAM1):c.375C>T (p.Asn125=)
NM_001005373.4(LRSAM1):c.39G>A (p.Glu13=)
NM_001005373.4(LRSAM1):c.406+13A>G
NM_001005373.4(LRSAM1):c.406+15G>A
NM_001005373.4(LRSAM1):c.406+17C>T
NM_001005373.4(LRSAM1):c.406+18G>A
NM_001005373.4(LRSAM1):c.406+20G>A
NM_001005373.4(LRSAM1):c.406+7A>T rs1163117546
NM_001005373.4(LRSAM1):c.407-15T>G
NM_001005373.4(LRSAM1):c.407-8C>T
NM_001005373.4(LRSAM1):c.438G>C (p.Val146=)
NM_001005373.4(LRSAM1):c.438G>T (p.Val146=)
NM_001005373.4(LRSAM1):c.441G>A (p.Gly147=)
NM_001005373.4(LRSAM1):c.454C>T (p.Leu152=) rs140143823
NM_001005373.4(LRSAM1):c.471C>T (p.Ile157=) rs1588100876
NM_001005373.4(LRSAM1):c.51C>T (p.Arg17=) rs1834446417
NM_001005373.4(LRSAM1):c.528+12G>A
NM_001005373.4(LRSAM1):c.528+15G>A
NM_001005373.4(LRSAM1):c.528+15G>C rs758039190
NM_001005373.4(LRSAM1):c.528+8G>A
NM_001005373.4(LRSAM1):c.549G>A (p.Ser183=) rs1459773762
NM_001005373.4(LRSAM1):c.564G>C (p.Pro188=)
NM_001005373.4(LRSAM1):c.564G>T (p.Pro188=) rs774399646
NM_001005373.4(LRSAM1):c.619+14G>T rs770398029
NM_001005373.4(LRSAM1):c.619+15C>T
NM_001005373.4(LRSAM1):c.620-11G>A rs369968003
NM_001005373.4(LRSAM1):c.620-11G>C
NM_001005373.4(LRSAM1):c.620-8T>C rs2132047746
NM_001005373.4(LRSAM1):c.620-9C>A rs1588114537
NM_001005373.4(LRSAM1):c.642C>G (p.Pro214=)
NM_001005373.4(LRSAM1):c.645T>A (p.Pro215=) rs1588114575
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn) rs551957380
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001005373.4(LRSAM1):c.73-14C>A
NM_001005373.4(LRSAM1):c.73-14C>G
NM_001005373.4(LRSAM1):c.73-8A>T
NM_001005373.4(LRSAM1):c.744G>A (p.Glu248=)
NM_001005373.4(LRSAM1):c.750+15C>T
NM_001005373.4(LRSAM1):c.751-18_751-15del
NM_001005373.4(LRSAM1):c.781-11G>C
NM_001005373.4(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_001005373.4(LRSAM1):c.831G>T (p.Gly277=)
NM_001005373.4(LRSAM1):c.843C>T (p.His281=) rs779095402
NM_001005373.4(LRSAM1):c.846C>T (p.Thr282=)
NM_001005373.4(LRSAM1):c.873G>A (p.Gln291=) rs2132062633
NM_001005373.4(LRSAM1):c.903+11C>T
NM_001005373.4(LRSAM1):c.903+13C>A
NM_001005373.4(LRSAM1):c.904-16C>T
NM_001005373.4(LRSAM1):c.904-18C>T rs2132063814
NM_001005373.4(LRSAM1):c.9C>T (p.Leu3=) rs540942030

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