ClinVar Miner

List of variants in gene SPTLC2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.850+34G>A rs45613436 0.03385
NM_004863.4(SPTLC2):c.1440-30T>G rs140089337 0.02105
NM_004863.4(SPTLC2):c.1176+98C>T rs117989420 0.01026
NM_004863.4(SPTLC2):c.1570-219C>G rs76689695 0.00928
NM_004863.4(SPTLC2):c.1570-107C>T rs113163668 0.00861
NM_004863.4(SPTLC2):c.956+83A>G rs116670813 0.00709
NM_004863.4(SPTLC2):c.1304-151A>G rs185132192 0.00572
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.483-58T>C rs75555387 0.00434
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.957-44C>G rs113823362 0.00023
NM_004863.4(SPTLC2):c.1172A>G (p.Lys391Arg) rs114940503 0.00022
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.414C>T (p.Ile138=) rs1364157223 0.00005
NM_004863.4(SPTLC2):c.1128G>A (p.Thr376=) rs773806229 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.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.1101C>T (p.Pro367=) rs765457530 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.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.-38C>T rs375977724 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.1080G>A (p.Val360=) rs764651221 0.00001
NM_004863.4(SPTLC2):c.1284G>A (p.Gly428=) rs756155597 0.00001
NM_004863.4(SPTLC2):c.1303+9T>G rs757545220 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.1377C>A (p.Ile459=) rs772404684 0.00001
NM_004863.4(SPTLC2):c.1440-5T>G rs556451968 0.00001
NM_004863.4(SPTLC2):c.1479C>T (p.Val493=) rs373444606 0.00001
NM_004863.4(SPTLC2):c.1659C>T (p.Asp553=) rs757746741 0.00001
NM_004863.4(SPTLC2):c.231G>A (p.Gly77=) rs1183868978 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.366T>C (p.Tyr122=) rs765827366 0.00001
NM_004863.4(SPTLC2):c.546A>G (p.Ala182=) rs1158103098 0.00001
NM_004863.4(SPTLC2):c.548G>A (p.Arg183Gln) rs368865952 0.00001
NM_004863.4(SPTLC2):c.619C>A (p.Arg207=) rs146066422 0.00001
NM_004863.4(SPTLC2):c.663G>A (p.Glu221=) rs773007136 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+8dup rs769443222 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.837C>T (p.Ile279=) rs1197653153 0.00001
NM_004863.4(SPTLC2):c.874T>C (p.Leu292=) rs996569306 0.00001
NM_004863.4(SPTLC2):c.900G>A (p.Gln300=) rs571524943 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_000014.9:g.77616818C>A rs115432973
NM_004863.4(SPTLC2):c.*2936_*2938dup rs200856836
NM_004863.4(SPTLC2):c.*3876GTT[2] rs544851038
NM_004863.4(SPTLC2):c.*5989dup rs149453307
NM_004863.4(SPTLC2):c.*6T>C rs73319080
NM_004863.4(SPTLC2):c.-30G>A rs142320856
NM_004863.4(SPTLC2):c.-30G>C rs142320856
NM_004863.4(SPTLC2):c.1017A>G (p.Ala339=)
NM_004863.4(SPTLC2):c.1035G>A (p.Glu345=) rs1566778601
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.1071G>C (p.Arg357=) rs2079577433
NM_004863.4(SPTLC2):c.1101C>G (p.Pro367=)
NM_004863.4(SPTLC2):c.1143T>C (p.Phe381=) rs2140020443
NM_004863.4(SPTLC2):c.1176+14G>A
NM_004863.4(SPTLC2):c.1176+20G>A
NM_004863.4(SPTLC2):c.1176+9G>C
NM_004863.4(SPTLC2):c.1177-14T>C rs2140017795
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala) rs577862696
NM_004863.4(SPTLC2):c.126C>T (p.Ala42=) rs2140071567
NM_004863.4(SPTLC2):c.128G>C (p.Gly43Ala) rs1057521684
NM_004863.4(SPTLC2):c.1303+10dup rs2140017607
NM_004863.4(SPTLC2):c.1304-4C>G rs1555373207
NM_004863.4(SPTLC2):c.1304-4C>T
NM_004863.4(SPTLC2):c.1304-5dup
NM_004863.4(SPTLC2):c.1315G>A (p.Val439Ile)
NM_004863.4(SPTLC2):c.132+10del rs1012404041
NM_004863.4(SPTLC2):c.132+9G>A rs752336783
NM_004863.4(SPTLC2):c.1341G>A (p.Arg447=)
NM_004863.4(SPTLC2):c.1362A>G (p.Lys454=)
NM_004863.4(SPTLC2):c.1407G>T (p.Val469=) rs1414279990
NM_004863.4(SPTLC2):c.1440-10C>T
NM_004863.4(SPTLC2):c.1530T>C (p.Phe510=)
NM_004863.4(SPTLC2):c.1534C>T (p.Leu512=)
NM_004863.4(SPTLC2):c.1542A>G (p.Ala514=)
NM_004863.4(SPTLC2):c.1569+8G>T rs577069180
NM_004863.4(SPTLC2):c.1570-19T>G
NM_004863.4(SPTLC2):c.1620C>G (p.Ser540=)
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.165T>C (p.Tyr55=)
NM_004863.4(SPTLC2):c.1668G>C (p.Thr556=) rs370209646
NM_004863.4(SPTLC2):c.180T>C (p.Asn60=)
NM_004863.4(SPTLC2):c.219C>T (p.Leu73=)
NM_004863.4(SPTLC2):c.21C>T (p.Gly7=)
NM_004863.4(SPTLC2):c.252T>C (p.Phe84=)
NM_004863.4(SPTLC2):c.255A>G (p.Gly85=) rs771876630
NM_004863.4(SPTLC2):c.279T>C (p.Tyr93=) rs2140056169
NM_004863.4(SPTLC2):c.30C>T (p.Cys10=)
NM_004863.4(SPTLC2):c.318A>G (p.Glu106=)
NM_004863.4(SPTLC2):c.327+10A>T rs1451522717
NM_004863.4(SPTLC2):c.327+7G>T rs2140056122
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.423G>T (p.Val141=)
NM_004863.4(SPTLC2):c.435G>T (p.Arg145Ser)
NM_004863.4(SPTLC2):c.438G>A (p.Val146=) rs975574041
NM_004863.4(SPTLC2):c.444C>T (p.Ile148=) rs369523661
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.525C>T (p.Ser175=)
NM_004863.4(SPTLC2):c.570A>G (p.Glu190=)
NM_004863.4(SPTLC2):c.597T>C (p.Tyr199=) rs1555376518
NM_004863.4(SPTLC2):c.609G>A (p.Val203=)
NM_004863.4(SPTLC2):c.631+19T>G
NM_004863.4(SPTLC2):c.632-11T>G
NM_004863.4(SPTLC2):c.632-73_632-69del rs371439273
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.708C>T (p.Gly236=) rs2140034136
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.73G>T (p.Val25Leu)
NM_004863.4(SPTLC2):c.757-14del rs776135010
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser) rs572378641
NM_004863.4(SPTLC2):c.78G>C (p.Arg26=)
NM_004863.4(SPTLC2):c.816G>C (p.Leu272=) rs1395196394
NM_004863.4(SPTLC2):c.851-154C>T
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.871C>T (p.Leu291=) rs2140022094
NM_004863.4(SPTLC2):c.873A>G (p.Leu291=) rs2079588503
NM_004863.4(SPTLC2):c.876G>A (p.Leu292=)
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.957-18T>C
NM_004863.4(SPTLC2):c.957-28AT[6] rs1046352769
NM_004863.4(SPTLC2):c.963G>A (p.Glu321=) rs182880965
NM_004863.4(SPTLC2):c.966A>C (p.Gly322=) rs2140020649
NM_004863.4(SPTLC2):c.981T>C (p.Leu327=) rs1305800586

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