ClinVar Miner

List of variants in gene SPTLC2 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 365
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.786T>C (p.Asn262=) rs2364602 0.83233
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=) rs34418677 0.01229
NM_004863.4(SPTLC2):c.1227G>A (p.Thr409=) rs9323646 0.00560
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_004863.4(SPTLC2):c.506G>C (p.Gly169Ala) rs75565823 0.00430
NM_004863.4(SPTLC2):c.1176+7G>A rs74063297 0.00399
NM_004863.4(SPTLC2):c.1614G>A (p.Lys538=) rs143770506 0.00070
NM_004863.4(SPTLC2):c.612C>T (p.Cys204=) rs115500562 0.00065
NM_004863.4(SPTLC2):c.1239T>C (p.Pro413=) rs140041902 0.00055
NM_004863.4(SPTLC2):c.1449A>T (p.Gly483=) rs149054777 0.00051
NM_004863.4(SPTLC2):c.1603T>C (p.Leu535=) rs34017190 0.00046
NM_004863.4(SPTLC2):c.432C>T (p.Ala144=) rs139381733 0.00037
NM_004863.4(SPTLC2):c.561A>G (p.Ser187=) rs143934634 0.00029
NM_004863.4(SPTLC2):c.851-5T>C rs199867946 0.00024
NM_004863.4(SPTLC2):c.1172A>G (p.Lys391Arg) rs114940503 0.00022
NM_004863.4(SPTLC2):c.957-20A>T rs777105588 0.00016
NM_004863.4(SPTLC2):c.1196G>A (p.Arg399Gln) rs143757018 0.00014
NM_004863.4(SPTLC2):c.1569+16C>T rs756795773 0.00014
NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=) rs539265514 0.00012
NM_004863.4(SPTLC2):c.174G>A (p.Pro58=) rs373828710 0.00012
NM_004863.4(SPTLC2):c.328-17T>C rs200794836 0.00011
NM_004863.4(SPTLC2):c.38C>T (p.Thr13Met) rs745644125 0.00011
NM_004863.4(SPTLC2):c.763C>T (p.Leu255=) rs773905221 0.00010
NM_004863.4(SPTLC2):c.1304-5T>G rs763217879 0.00009
NM_004863.4(SPTLC2):c.1313G>A (p.Cys438Tyr) rs116342919 0.00009
NM_004863.4(SPTLC2):c.1065A>T (p.Thr355=) rs138865310 0.00008
NM_004863.4(SPTLC2):c.99C>A (p.Ser33Arg) rs763621248 0.00008
NM_004863.4(SPTLC2):c.1217T>C (p.Val406Ala) rs1024879456 0.00006
NM_004863.4(SPTLC2):c.1622G>A (p.Arg541His) rs375384785 0.00006
NM_004863.4(SPTLC2):c.977G>A (p.Arg326His) rs116822112 0.00006
NM_004863.4(SPTLC2):c.1628G>A (p.Arg543Gln) rs763898397 0.00005
NM_004863.4(SPTLC2):c.414C>T (p.Ile138=) rs1364157223 0.00005
NM_004863.4(SPTLC2):c.1128G>A (p.Thr376=) rs773806229 0.00004
NM_004863.4(SPTLC2):c.1176+6C>T rs766616688 0.00004
NM_004863.4(SPTLC2):c.1354C>T (p.Arg452Cys) rs747168398 0.00004
NM_004863.4(SPTLC2):c.1470C>T (p.Asn490=) rs374657234 0.00004
NM_004863.4(SPTLC2):c.1668G>A (p.Thr556=) rs370209646 0.00004
NM_004863.4(SPTLC2):c.237C>T (p.Gly79=) rs560785142 0.00004
NM_004863.4(SPTLC2):c.238G>A (p.Val80Ile) rs776997699 0.00004
NM_004863.4(SPTLC2):c.702G>A (p.Ala234=) rs372032405 0.00004
NM_004863.4(SPTLC2):c.996C>T (p.Ala332=) rs757660579 0.00004
NM_004863.4(SPTLC2):c.1062C>A (p.Pro354=) rs764116609 0.00003
NM_004863.4(SPTLC2):c.222G>A (p.Thr74=) rs763582332 0.00003
NM_004863.4(SPTLC2):c.73G>C (p.Val25Leu) rs1017782894 0.00003
NM_004863.4(SPTLC2):c.756+10T>C rs772919286 0.00003
NM_004863.4(SPTLC2):c.1101C>T (p.Pro367=) rs765457530 0.00002
NM_004863.4(SPTLC2):c.1226C>T (p.Thr409Met) rs368357970 0.00002
NM_004863.4(SPTLC2):c.1304-12G>A rs1230441889 0.00002
NM_004863.4(SPTLC2):c.1304-13C>T rs368131672 0.00002
NM_004863.4(SPTLC2):c.1450C>T (p.Arg484Trp) rs765520235 0.00002
NM_004863.4(SPTLC2):c.1451G>A (p.Arg484Gln) rs755350573 0.00002
NM_004863.4(SPTLC2):c.1473C>T (p.Ile491=) rs374308415 0.00002
NM_004863.4(SPTLC2):c.255A>T (p.Gly85=) rs771876630 0.00002
NM_004863.4(SPTLC2):c.264A>C (p.Arg88=) rs778242101 0.00002
NM_004863.4(SPTLC2):c.406C>T (p.Arg136Trp) rs116730455 0.00002
NM_004863.4(SPTLC2):c.842A>G (p.Lys281Arg) rs780031244 0.00002
NM_004863.4(SPTLC2):c.970A>G (p.Ile324Val) rs1488039133 0.00002
NM_004863.4(SPTLC2):c.994G>T (p.Ala332Ser) rs767978353 0.00002
NM_004863.4(SPTLC2):c.1051G>A (p.Ala351Thr) rs773212643 0.00001
NM_004863.4(SPTLC2):c.1059C>T (p.Gly353=) rs747649289 0.00001
NM_004863.4(SPTLC2):c.1070G>A (p.Arg357Gln) rs375669404 0.00001
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met) rs267607090 0.00001
NM_004863.4(SPTLC2):c.1080G>A (p.Val360=) rs764651221 0.00001
NM_004863.4(SPTLC2):c.109G>T (p.Ala37Ser) rs1245435236 0.00001
NM_004863.4(SPTLC2):c.1118T>C (p.Met373Thr) rs771962258 0.00001
NM_004863.4(SPTLC2):c.1127C>T (p.Thr376Met) rs761783981 0.00001
NM_004863.4(SPTLC2):c.122C>T (p.Ala41Val) rs1397356644 0.00001
NM_004863.4(SPTLC2):c.1284G>A (p.Gly428=) rs756155597 0.00001
NM_004863.4(SPTLC2):c.1292G>A (p.Gly431Asp) rs746036150 0.00001
NM_004863.4(SPTLC2):c.12G>T (p.Glu4Asp) rs780139760 0.00001
NM_004863.4(SPTLC2):c.1303+9T>G rs757545220 0.00001
NM_004863.4(SPTLC2):c.1312T>C (p.Cys438Arg) rs151141805 0.00001
NM_004863.4(SPTLC2):c.1320A>G (p.Gln440=) rs377233305 0.00001
NM_004863.4(SPTLC2):c.133-13A>G rs762952400 0.00001
NM_004863.4(SPTLC2):c.1355G>A (p.Arg452His) rs1458871280 0.00001
NM_004863.4(SPTLC2):c.1377C>A (p.Ile459=) rs772404684 0.00001
NM_004863.4(SPTLC2):c.1439+4C>T rs1035407081 0.00001
NM_004863.4(SPTLC2):c.1439+5G>A rs750011579 0.00001
NM_004863.4(SPTLC2):c.1440-5T>G rs556451968 0.00001
NM_004863.4(SPTLC2):c.1447G>T (p.Gly483Ter) rs756812919 0.00001
NM_004863.4(SPTLC2):c.1479C>T (p.Val493=) rs373444606 0.00001
NM_004863.4(SPTLC2):c.1569+8G>A rs577069180 0.00001
NM_004863.4(SPTLC2):c.1621C>T (p.Arg541Cys) rs746495804 0.00001
NM_004863.4(SPTLC2):c.163T>C (p.Tyr55His) rs1273884598 0.00001
NM_004863.4(SPTLC2):c.1659C>T (p.Asp553=) rs757746741 0.00001
NM_004863.4(SPTLC2):c.173C>T (p.Pro58Leu) rs371307729 0.00001
NM_004863.4(SPTLC2):c.178A>G (p.Asn60Asp) rs758420217 0.00001
NM_004863.4(SPTLC2):c.231G>A (p.Gly77=) rs1183868978 0.00001
NM_004863.4(SPTLC2):c.263G>A (p.Arg88Gln) rs748168089 0.00001
NM_004863.4(SPTLC2):c.273G>A (p.Leu91=) rs145489962 0.00001
NM_004863.4(SPTLC2):c.300C>T (p.His100=) rs751864113 0.00001
NM_004863.4(SPTLC2):c.35G>C (p.Arg12Pro) rs963707121 0.00001
NM_004863.4(SPTLC2):c.366T>C (p.Tyr122=) rs765827366 0.00001
NM_004863.4(SPTLC2):c.415T>C (p.Cys139Arg) rs150036058 0.00001
NM_004863.4(SPTLC2):c.430G>A (p.Ala144Thr) rs1421233916 0.00001
NM_004863.4(SPTLC2):c.445A>G (p.Met149Val) rs1309964279 0.00001
NM_004863.4(SPTLC2):c.44G>A (p.Arg15Gln) rs1164824967 0.00001
NM_004863.4(SPTLC2):c.460C>A (p.His154Asn) rs1205341271 0.00001
NM_004863.4(SPTLC2):c.461A>G (p.His154Arg) rs1426663035 0.00001
NM_004863.4(SPTLC2):c.467A>G (p.Tyr156Cys) rs1271201080 0.00001
NM_004863.4(SPTLC2):c.502A>G (p.Lys168Glu) rs762005720 0.00001
NM_004863.4(SPTLC2):c.511A>G (p.Ile171Val) rs763924228 0.00001
NM_004863.4(SPTLC2):c.546A>G (p.Ala182=) rs1158103098 0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_004863.4(SPTLC2):c.548G>A (p.Arg183Gln) rs368865952 0.00001
NM_004863.4(SPTLC2):c.565C>A (p.Gln189Lys) rs1216165779 0.00001
NM_004863.4(SPTLC2):c.575C>T (p.Ala192Val) rs776071727 0.00001
NM_004863.4(SPTLC2):c.610T>G (p.Cys204Gly) rs781167120 0.00001
NM_004863.4(SPTLC2):c.619C>A (p.Arg207=) rs146066422 0.00001
NM_004863.4(SPTLC2):c.620G>A (p.Arg207Gln) rs751801159 0.00001
NM_004863.4(SPTLC2):c.663G>A (p.Glu221=) rs773007136 0.00001
NM_004863.4(SPTLC2):c.701C>T (p.Ala234Val) rs761202531 0.00001
NM_004863.4(SPTLC2):c.721A>G (p.Thr241Ala) rs781282316 0.00001
NM_004863.4(SPTLC2):c.737T>C (p.Ile246Thr) rs2079674859 0.00001
NM_004863.4(SPTLC2):c.747T>C (p.Leu249=) rs148535125 0.00001
NM_004863.4(SPTLC2):c.756+17T>G rs1057521628 0.00001
NM_004863.4(SPTLC2):c.756+3A>G rs1033756932 0.00001
NM_004863.4(SPTLC2):c.756+8dup rs769443222 0.00001
NM_004863.4(SPTLC2):c.760T>C (p.Cys254Arg) rs767182140 0.00001
NM_004863.4(SPTLC2):c.819A>G (p.Ser273=) rs747565334 0.00001
NM_004863.4(SPTLC2):c.81C>T (p.Asn27=) rs751595983 0.00001
NM_004863.4(SPTLC2):c.820G>A (p.Gly274Arg) rs2079619821 0.00001
NM_004863.4(SPTLC2):c.837C>T (p.Ile279=) rs1197653153 0.00001
NM_004863.4(SPTLC2):c.874T>C (p.Leu292=) rs996569306 0.00001
NM_004863.4(SPTLC2):c.890T>C (p.Val297Ala) rs370170064 0.00001
NM_004863.4(SPTLC2):c.900G>A (p.Gln300=) rs571524943 0.00001
NM_004863.4(SPTLC2):c.905G>A (p.Arg302Gln) rs766660719 0.00001
NM_004863.4(SPTLC2):c.911G>A (p.Arg304Gln) rs761038205 0.00001
NM_004863.4(SPTLC2):c.936C>T (p.Ile312=) rs966096873 0.00001
NM_004863.4(SPTLC2):c.956+10C>G rs767903051 0.00001
NM_004863.4(SPTLC2):c.957-7T>C rs1257987991 0.00001
NC_000014.8:g.(?_77978617)_(77978756_?)del
NC_000014.8:g.(?_77978627)_(77984530_?)del
NC_000014.8:g.(?_77984371)_(77984520_?)del
NC_000014.8:g.(?_78018419)_(78018585_?)del
NC_000014.8:g.(?_78045288)_(78045462_?)dup
NC_000014.9:g.(?_77512274)_(77579119_?)dup
NC_000014.9:g.(?_77616438)_(77616589_?)del
NM_004863.4(SPTLC2):c.1009T>C (p.Tyr337His) rs2079578053
NM_004863.4(SPTLC2):c.1010A>G (p.Tyr337Cys) rs2140020609
NM_004863.4(SPTLC2):c.1015G>A (p.Ala339Thr)
NM_004863.4(SPTLC2):c.1017A>G (p.Ala339=)
NM_004863.4(SPTLC2):c.1019A>G (p.Tyr340Cys) rs2140020594
NM_004863.4(SPTLC2):c.1032T>G (p.Asp344Glu) rs1555375334
NM_004863.4(SPTLC2):c.1035G>A (p.Glu345=) rs1566778601
NM_004863.4(SPTLC2):c.1051G>T (p.Ala351Ser) rs773212643
NM_004863.4(SPTLC2):c.105AGCCGC[2] (p.Ala41_Ala42del) rs577436926
NM_004863.4(SPTLC2):c.105AGCCGC[4] (p.Ala41_Ala42dup) rs577436926
NM_004863.4(SPTLC2):c.1060C>T (p.Pro354Ser) rs2079577617
NM_004863.4(SPTLC2):c.1067G>C (p.Gly356Ala)
NM_004863.4(SPTLC2):c.1069C>T (p.Arg357Trp)
NM_004863.4(SPTLC2):c.1071G>C (p.Arg357=) rs2079577433
NM_004863.4(SPTLC2):c.10G>C (p.Glu4Gln)
NM_004863.4(SPTLC2):c.1101C>G (p.Pro367=)
NM_004863.4(SPTLC2):c.1106A>G (p.Asp369Gly)
NM_004863.4(SPTLC2):c.1117A>T (p.Met373Leu)
NM_004863.4(SPTLC2):c.1143T>C (p.Phe381=) rs2140020443
NM_004863.4(SPTLC2):c.1144G>C (p.Gly382Arg) rs2079576918
NM_004863.4(SPTLC2):c.1145G>T (p.Gly382Val) rs267607089
NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe) rs1594986869
NM_004863.4(SPTLC2):c.1162A>G (p.Ile388Val) rs2079576761
NM_004863.4(SPTLC2):c.116C>T (p.Ala39Val) rs1360384744
NM_004863.4(SPTLC2):c.116_127del (p.Ala39_Ala42del) rs759802248
NM_004863.4(SPTLC2):c.1176+14G>A
NM_004863.4(SPTLC2):c.1176+20G>A
NM_004863.4(SPTLC2):c.1176+4A>G rs894410400
NM_004863.4(SPTLC2):c.1176+9G>C
NM_004863.4(SPTLC2):c.1177-14T>C rs2140017795
NM_004863.4(SPTLC2):c.119CCG[5] (p.Ala41_Ala42dup) rs1555379635
NM_004863.4(SPTLC2):c.1201C>A (p.His401Asn)
NM_004863.4(SPTLC2):c.1203T>C (p.His401=)
NM_004863.4(SPTLC2):c.1213G>A (p.Ala405Thr) rs2079559039
NM_004863.4(SPTLC2):c.1226C>A (p.Thr409Lys) rs368357970
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala) rs577862696
NM_004863.4(SPTLC2):c.124G>A (p.Ala42Thr)
NM_004863.4(SPTLC2):c.1262C>T (p.Thr421Ile) rs2140017667
NM_004863.4(SPTLC2):c.126C>T (p.Ala42=) rs2140071567
NM_004863.4(SPTLC2):c.1274G>A (p.Cys425Tyr)
NM_004863.4(SPTLC2):c.1288G>C (p.Asp430His) rs2079558586
NM_004863.4(SPTLC2):c.128G>A (p.Gly43Asp) rs1057521684
NM_004863.4(SPTLC2):c.1297A>G (p.Ser433Gly)
NM_004863.4(SPTLC2):c.1303+10dup rs2140017607
NM_004863.4(SPTLC2):c.1304-1G>C
NM_004863.4(SPTLC2):c.1304-4C>T
NM_004863.4(SPTLC2):c.1304-5dup
NM_004863.4(SPTLC2):c.1304-7T>G
NM_004863.4(SPTLC2):c.1319A>G (p.Gln440Arg)
NM_004863.4(SPTLC2):c.131A>G (p.Gln44Arg)
NM_004863.4(SPTLC2):c.132+10del rs1012404041
NM_004863.4(SPTLC2):c.132+5G>T rs1442394746
NM_004863.4(SPTLC2):c.132+9G>A rs752336783
NM_004863.4(SPTLC2):c.1341G>A (p.Arg447=)
NM_004863.4(SPTLC2):c.135C>G (p.Ile45Met) rs1595013409
NM_004863.4(SPTLC2):c.1362A>G (p.Lys454=)
NM_004863.4(SPTLC2):c.1378A>G (p.Ile460Val) rs2139994945
NM_004863.4(SPTLC2):c.13C>T (p.Pro5Ser) rs1473189491
NM_004863.4(SPTLC2):c.1403_1413del (p.Val468fs) rs2079384603
NM_004863.4(SPTLC2):c.1407G>T (p.Val469=) rs1414279990
NM_004863.4(SPTLC2):c.1411T>G (p.Leu471Val)
NM_004863.4(SPTLC2):c.1423A>G (p.Met475Val)
NM_004863.4(SPTLC2):c.1440-10C>T
NM_004863.4(SPTLC2):c.1440C>T (p.Gly480=)
NM_004863.4(SPTLC2):c.1448G>T (p.Gly483Val)
NM_004863.4(SPTLC2):c.1450del (p.Arg484fs)
NM_004863.4(SPTLC2):c.1453G>C (p.Glu485Gln) rs1317731653
NM_004863.4(SPTLC2):c.1481T>C (p.Val494Ala) rs1555372983
NM_004863.4(SPTLC2):c.14C>T (p.Pro5Leu)
NM_004863.4(SPTLC2):c.1511T>C (p.Ile504Thr) rs775468865
NM_004863.4(SPTLC2):c.1530T>C (p.Phe510=)
NM_004863.4(SPTLC2):c.1534C>T (p.Leu512=)
NM_004863.4(SPTLC2):c.1541C>T (p.Ala514Val)
NM_004863.4(SPTLC2):c.1542A>G (p.Ala514=)
NM_004863.4(SPTLC2):c.1543G>A (p.Ala515Thr) rs2079367502
NM_004863.4(SPTLC2):c.154G>A (p.Gly52Arg)
NM_004863.4(SPTLC2):c.1567A>C (p.Thr523Pro) rs2139992960
NM_004863.4(SPTLC2):c.1569+8G>T rs577069180
NM_004863.4(SPTLC2):c.1570-19T>G
NM_004863.4(SPTLC2):c.1570_1572delinsATC (p.Ala524Ile) rs2079337088
NM_004863.4(SPTLC2):c.1576A>G (p.Lys526Glu) rs1162872465
NM_004863.4(SPTLC2):c.1579G>A (p.Glu527Lys)
NM_004863.4(SPTLC2):c.1597G>A (p.Asp533Asn) rs1334152040
NM_004863.4(SPTLC2):c.161T>C (p.Leu54Pro)
NM_004863.4(SPTLC2):c.1620C>G (p.Ser540=)
NM_004863.4(SPTLC2):c.1621del (p.Arg541fs) rs2139989157
NM_004863.4(SPTLC2):c.1627C>T (p.Arg543Trp)
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.162A>G (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.1637C>T (p.Pro546Leu)
NM_004863.4(SPTLC2):c.1640T>A (p.Leu547Gln) rs373948802
NM_004863.4(SPTLC2):c.165T>C (p.Tyr55=)
NM_004863.4(SPTLC2):c.1667C>T (p.Thr556Met) rs1207958200
NM_004863.4(SPTLC2):c.1668G>C (p.Thr556=) rs370209646
NM_004863.4(SPTLC2):c.166A>G (p.Lys56Glu) rs1251070277
NM_004863.4(SPTLC2):c.173C>G (p.Pro58Arg) rs371307729
NM_004863.4(SPTLC2):c.180T>C (p.Asn60=)
NM_004863.4(SPTLC2):c.180T>G (p.Asn60Lys) rs769807904
NM_004863.4(SPTLC2):c.187T>C (p.Phe63Leu) rs2079852842
NM_004863.4(SPTLC2):c.196_204dup (p.Met68_Leu69insThrProMet)
NM_004863.4(SPTLC2):c.1_23dup (p.Cys8Ter) rs2140071742
NM_004863.4(SPTLC2):c.202A>T (p.Met68Leu)
NM_004863.4(SPTLC2):c.208G>T (p.Val70Phe) rs2079852647
NM_004863.4(SPTLC2):c.219C>T (p.Leu73=)
NM_004863.4(SPTLC2):c.21C>T (p.Gly7=)
NM_004863.4(SPTLC2):c.222_223delinsTA (p.Tyr75Asn)
NM_004863.4(SPTLC2):c.245C>T (p.Thr82Ile) rs1555378043
NM_004863.4(SPTLC2):c.248T>G (p.Leu83Arg) rs2079852376
NM_004863.4(SPTLC2):c.252T>C (p.Phe84=)
NM_004863.4(SPTLC2):c.255A>G (p.Gly85=) rs771876630
NM_004863.4(SPTLC2):c.260T>A (p.Leu87His)
NM_004863.4(SPTLC2):c.261del (p.Arg88fs) rs2140056187
NM_004863.4(SPTLC2):c.278A>G (p.Tyr93Cys)
NM_004863.4(SPTLC2):c.279T>C (p.Tyr93=) rs2140056169
NM_004863.4(SPTLC2):c.280T>C (p.Trp94Arg)
NM_004863.4(SPTLC2):c.301C>T (p.His101Tyr) rs1595013256
NM_004863.4(SPTLC2):c.302A>G (p.His101Arg) rs764557377
NM_004863.4(SPTLC2):c.30C>T (p.Cys10=)
NM_004863.4(SPTLC2):c.318A>G (p.Glu106=)
NM_004863.4(SPTLC2):c.31CGC[3] (p.Arg12_Thr13insArg)
NM_004863.4(SPTLC2):c.327+10A>T rs1451522717
NM_004863.4(SPTLC2):c.327+5C>G rs1385358452
NM_004863.4(SPTLC2):c.327+7G>T rs2140056122
NM_004863.4(SPTLC2):c.327G>A (p.Lys109=)
NM_004863.4(SPTLC2):c.328-13C>T
NM_004863.4(SPTLC2):c.339A>C (p.Ser113=) rs952500033
NM_004863.4(SPTLC2):c.33C>T (p.Arg11=) rs2079969142
NM_004863.4(SPTLC2):c.350A>G (p.Asp117Gly) rs1595002005
NM_004863.4(SPTLC2):c.355G>A (p.Glu119Lys) rs1595002000
NM_004863.4(SPTLC2):c.358A>G (p.Asn120Asp)
NM_004863.4(SPTLC2):c.388A>T (p.Ile130Leu) rs766618928
NM_004863.4(SPTLC2):c.398A>G (p.Asn133Ser) rs1555376645
NM_004863.4(SPTLC2):c.404A>G (p.Asn135Ser)
NM_004863.4(SPTLC2):c.418A>G (p.Ser140Gly) rs2079732982
NM_004863.4(SPTLC2):c.423G>T (p.Val141=)
NM_004863.4(SPTLC2):c.434G>A (p.Arg145Lys)
NM_004863.4(SPTLC2):c.435G>T (p.Arg145Ser)
NM_004863.4(SPTLC2):c.438G>A (p.Val146=) rs975574041
NM_004863.4(SPTLC2):c.440A>G (p.Asp147Gly)
NM_004863.4(SPTLC2):c.444C>T (p.Ile148=) rs369523661
NM_004863.4(SPTLC2):c.455A>G (p.Gln152Arg) rs2079732655
NM_004863.4(SPTLC2):c.461A>C (p.His154Pro)
NM_004863.4(SPTLC2):c.463G>A (p.Asp155Asn) rs2140040861
NM_004863.4(SPTLC2):c.466T>C (p.Tyr156His) rs2079732561
NM_004863.4(SPTLC2):c.473G>A (p.Trp158Ter)
NM_004863.4(SPTLC2):c.482A>G (p.Lys161Arg)
NM_004863.4(SPTLC2):c.483-11T>C
NM_004863.4(SPTLC2):c.483-14C>T
NM_004863.4(SPTLC2):c.483-18T>C
NM_004863.4(SPTLC2):c.483-19T>G
NM_004863.4(SPTLC2):c.483-6G>T rs991080462
NM_004863.4(SPTLC2):c.483-7T>C
NM_004863.4(SPTLC2):c.486T>C (p.Tyr162=) rs2140039162
NM_004863.4(SPTLC2):c.496A>T (p.Ile166Leu) rs1355725205
NM_004863.4(SPTLC2):c.499A>G (p.Ile167Val)
NM_004863.4(SPTLC2):c.50A>G (p.Asn17Ser)
NM_004863.4(SPTLC2):c.523T>C (p.Ser175Pro)
NM_004863.4(SPTLC2):c.525C>T (p.Ser175=)
NM_004863.4(SPTLC2):c.529A>G (p.Asn177Asp) rs1131691917
NM_004863.4(SPTLC2):c.533A>G (p.Tyr178Cys) rs1011016523
NM_004863.4(SPTLC2):c.538G>C (p.Gly180Arg) rs1250368224
NM_004863.4(SPTLC2):c.562T>C (p.Cys188Arg)
NM_004863.4(SPTLC2):c.570A>G (p.Glu190=)
NM_004863.4(SPTLC2):c.577G>A (p.Ala193Thr)
NM_004863.4(SPTLC2):c.583G>A (p.Val195Ile) rs2079718505
NM_004863.4(SPTLC2):c.5G>T (p.Arg2Leu)
NM_004863.4(SPTLC2):c.605G>A (p.Gly202Glu) rs749749416
NM_004863.4(SPTLC2):c.609G>A (p.Val203=)
NM_004863.4(SPTLC2):c.617C>G (p.Thr206Ser)
NM_004863.4(SPTLC2):c.628A>G (p.Ile210Val) rs761533653
NM_004863.4(SPTLC2):c.630T>C (p.Ile210=)
NM_004863.4(SPTLC2):c.631+19T>G
NM_004863.4(SPTLC2):c.631+4A>C
NM_004863.4(SPTLC2):c.632-11T>G
NM_004863.4(SPTLC2):c.648T>G (p.His216Gln) rs374561654
NM_004863.4(SPTLC2):c.65A>G (p.Asn22Ser) rs2140071668
NM_004863.4(SPTLC2):c.661G>C (p.Glu221Gln)
NM_004863.4(SPTLC2):c.666T>C (p.Leu222=) rs185957601
NM_004863.4(SPTLC2):c.666T>G (p.Leu222=) rs185957601
NM_004863.4(SPTLC2):c.675G>T (p.Arg225Ser) rs2079675267
NM_004863.4(SPTLC2):c.68G>A (p.Gly23Glu) rs1474895929
NM_004863.4(SPTLC2):c.691G>A (p.Ala231Thr) rs2140034164
NM_004863.4(SPTLC2):c.692C>G (p.Ala231Gly) rs2140034161
NM_004863.4(SPTLC2):c.702_708del (p.Tyr235fs) rs1594996545
NM_004863.4(SPTLC2):c.708C>T (p.Gly236=) rs2140034136
NM_004863.4(SPTLC2):c.70G>C (p.Glu24Gln) rs1555379648
NM_004863.4(SPTLC2):c.722C>T (p.Thr241Met)
NM_004863.4(SPTLC2):c.723G>A (p.Thr241=) rs114519796
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=) rs114519796
NM_004863.4(SPTLC2):c.730A>G (p.Met244Val)
NM_004863.4(SPTLC2):c.736A>G (p.Ile246Val) rs2079674880
NM_004863.4(SPTLC2):c.73G>T (p.Val25Leu)
NM_004863.4(SPTLC2):c.748G>A (p.Val250Ile) rs753752297
NM_004863.4(SPTLC2):c.756+6A>G rs1386326474
NM_004863.4(SPTLC2):c.757-14del rs776135010
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser) rs572378641
NM_004863.4(SPTLC2):c.768T>G (p.Ile256Met) rs879254003
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys) rs2079620247
NM_004863.4(SPTLC2):c.78G>C (p.Arg26=)
NM_004863.4(SPTLC2):c.816G>C (p.Leu272=) rs1395196394
NM_004863.4(SPTLC2):c.823G>A (p.Ala275Thr)
NM_004863.4(SPTLC2):c.829A>G (p.Ile277Val) rs2079619707
NM_004863.4(SPTLC2):c.841A>C (p.Lys281Gln) rs2140026532
NM_004863.4(SPTLC2):c.851-18C>G
NM_004863.4(SPTLC2):c.851-6C>A
NM_004863.4(SPTLC2):c.851-9G>T rs2140022140
NM_004863.4(SPTLC2):c.857A>G (p.Gln286Arg) rs2079588620
NM_004863.4(SPTLC2):c.865G>C (p.Glu289Gln) rs1028968270
NM_004863.4(SPTLC2):c.871C>T (p.Leu291=) rs2140022094
NM_004863.4(SPTLC2):c.872T>C (p.Leu291Pro) rs1374794040
NM_004863.4(SPTLC2):c.873A>G (p.Leu291=) rs2079588503
NM_004863.4(SPTLC2):c.876G>A (p.Leu292=)
NM_004863.4(SPTLC2):c.88G>A (p.Val30Met)
NM_004863.4(SPTLC2):c.8C>T (p.Pro3Leu) rs2079969474
NM_004863.4(SPTLC2):c.909A>C (p.Thr303=)
NM_004863.4(SPTLC2):c.915G>A (p.Arg305=) rs1167129943
NM_004863.4(SPTLC2):c.933C>T (p.Leu311=)
NM_004863.4(SPTLC2):c.934A>G (p.Ile312Val) rs2079588117
NM_004863.4(SPTLC2):c.93G>C (p.Arg31Ser)
NM_004863.4(SPTLC2):c.953A>G (p.Tyr318Cys) rs2079588030
NM_004863.4(SPTLC2):c.956+5T>C
NM_004863.4(SPTLC2):c.957-18T>C
NM_004863.4(SPTLC2):c.957-28AT[6] rs1046352769
NM_004863.4(SPTLC2):c.958A>G (p.Met320Val) rs1440656780
NM_004863.4(SPTLC2):c.966A>C (p.Gly322=) rs2140020649
NM_004863.4(SPTLC2):c.981T>C (p.Leu327=) rs1305800586
NM_004863.4(SPTLC2):c.992T>C (p.Ile331Thr)

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