ClinVar Miner

List of variants in gene SPTLC2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.1196G>A (p.Arg399Gln) rs143757018 0.00014
NM_004863.4(SPTLC2):c.38C>T (p.Thr13Met) rs745644125 0.00011
NM_004863.4(SPTLC2):c.1313G>A (p.Cys438Tyr) rs116342919 0.00009
NM_004863.4(SPTLC2):c.99C>A (p.Ser33Arg) rs763621248 0.00008
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.1176+6C>T rs766616688 0.00004
NM_004863.4(SPTLC2):c.1354C>T (p.Arg452Cys) rs747168398 0.00004
NM_004863.4(SPTLC2):c.238G>A (p.Val80Ile) rs776997699 0.00004
NM_004863.4(SPTLC2):c.1226C>T (p.Thr409Met) rs368357970 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.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.1070G>A (p.Arg357Gln) rs375669404 0.00001
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met) rs267607090 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.1292G>A (p.Gly431Asp) rs746036150 0.00001
NM_004863.4(SPTLC2):c.12G>T (p.Glu4Asp) rs780139760 0.00001
NM_004863.4(SPTLC2):c.1312T>C (p.Cys438Arg) rs151141805 0.00001
NM_004863.4(SPTLC2):c.1355G>A (p.Arg452His) rs1458871280 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.1447G>T (p.Gly483Ter) rs756812919 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.173C>T (p.Pro58Leu) rs371307729 0.00001
NM_004863.4(SPTLC2):c.178A>G (p.Asn60Asp) rs758420217 0.00001
NM_004863.4(SPTLC2):c.263G>A (p.Arg88Gln) rs748168089 0.00001
NM_004863.4(SPTLC2):c.35G>C (p.Arg12Pro) rs963707121 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.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.620G>A (p.Arg207Gln) rs751801159 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.756+3A>G rs1033756932 0.00001
NM_004863.4(SPTLC2):c.760T>C (p.Cys254Arg) rs767182140 0.00001
NM_004863.4(SPTLC2):c.820G>A (p.Gly274Arg) rs2079619821 0.00001
NM_004863.4(SPTLC2):c.890T>C (p.Val297Ala) rs370170064 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
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.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[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.10G>C (p.Glu4Gln)
NM_004863.4(SPTLC2):c.1106A>G (p.Asp369Gly)
NM_004863.4(SPTLC2):c.1117A>T (p.Met373Leu)
NM_004863.4(SPTLC2):c.1144G>C (p.Gly382Arg) rs2079576918
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+4A>G rs894410400
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.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.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.1304-1G>C
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+5G>T rs1442394746
NM_004863.4(SPTLC2):c.135C>G (p.Ile45Met) rs1595013409
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.1411T>G (p.Leu471Val)
NM_004863.4(SPTLC2):c.1423A>G (p.Met475Val)
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.1541C>T (p.Ala514Val)
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.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.1621del (p.Arg541fs) rs2139989157
NM_004863.4(SPTLC2):c.1627C>T (p.Arg543Trp)
NM_004863.4(SPTLC2):c.1637C>T (p.Pro546Leu)
NM_004863.4(SPTLC2):c.1640T>A (p.Leu547Gln) rs373948802
NM_004863.4(SPTLC2):c.1667C>T (p.Thr556Met) rs1207958200
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>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.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.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.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.31CGC[3] (p.Arg12_Thr13insArg)
NM_004863.4(SPTLC2):c.327+5C>G rs1385358452
NM_004863.4(SPTLC2):c.327G>A (p.Lys109=)
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.434G>A (p.Arg145Lys)
NM_004863.4(SPTLC2):c.440A>G (p.Asp147Gly)
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.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.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.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.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+4A>C
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.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.70G>C (p.Glu24Gln) rs1555379648
NM_004863.4(SPTLC2):c.722C>T (p.Thr241Met)
NM_004863.4(SPTLC2):c.730A>G (p.Met244Val)
NM_004863.4(SPTLC2):c.736A>G (p.Ile246Val) rs2079674880
NM_004863.4(SPTLC2):c.748G>A (p.Val250Ile) rs753752297
NM_004863.4(SPTLC2):c.756+6A>G rs1386326474
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.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.857A>G (p.Gln286Arg) rs2079588620
NM_004863.4(SPTLC2):c.865G>C (p.Glu289Gln) rs1028968270
NM_004863.4(SPTLC2):c.872T>C (p.Leu291Pro) rs1374794040
NM_004863.4(SPTLC2):c.88G>A (p.Val30Met)
NM_004863.4(SPTLC2):c.8C>T (p.Pro3Leu) rs2079969474
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.958A>G (p.Met320Val) rs1440656780
NM_004863.4(SPTLC2):c.992T>C (p.Ile331Thr)

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