ClinVar Miner

List of variants in gene SPTLC2 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.*3612T>A rs2364160 0.95467
NM_004863.4(SPTLC2):c.*4645A>G rs10132095 0.95264
NM_004863.4(SPTLC2):c.*4673_*4674insTG rs58831828 0.83371
NM_004863.4(SPTLC2):c.786T>C (p.Asn262=) rs2364602 0.83233
NM_004863.4(SPTLC2):c.*3524A>C rs1063270 0.75189
NM_004863.4(SPTLC2):c.*3637G>A rs1063271 0.74276
NM_004863.4(SPTLC2):c.*2302A>G rs11159269 0.73771
NM_004863.4(SPTLC2):c.*4446G>T rs11159268 0.54169
NM_004863.4(SPTLC2):c.*2177A>C rs17824567 0.11179
NM_004863.4(SPTLC2):c.*2159A>G rs45493395 0.11081
NM_004863.4(SPTLC2):c.*2702G>A rs10147023 0.08565
NM_004863.4(SPTLC2):c.*1134T>C rs17751562 0.07179
NM_004863.4(SPTLC2):c.*5531A>G rs17105886 0.06072
NM_004863.4(SPTLC2):c.*6080C>G rs56040359 0.05057
NM_004863.4(SPTLC2):c.*1742C>T rs9323644 0.03686
NM_004863.4(SPTLC2):c.*4198C>T rs143542715 0.02771
NM_004863.4(SPTLC2):c.*5358T>C rs8021886 0.02770
NM_004863.4(SPTLC2):c.*4914C>T rs150007923 0.02739
NM_004863.4(SPTLC2):c.-43C>T rs7155278 0.02570
NM_004863.4(SPTLC2):c.*4431G>T rs75823402 0.01241
NM_004863.4(SPTLC2):c.*4503A>G rs78947178 0.01233
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=) rs34418677 0.01229
NM_004863.4(SPTLC2):c.*1014C>T rs116563416 0.01210
NM_004863.4(SPTLC2):c.*5395C>G rs13430 0.01060
NM_004863.4(SPTLC2):c.*3224C>T rs77200167 0.00956
NM_004863.4(SPTLC2):c.*3812C>T rs74730673 0.00930
NM_004863.4(SPTLC2):c.*1221A>G rs80244932 0.00919
NM_004863.4(SPTLC2):c.*3034C>G rs75977251 0.00919
NM_004863.4(SPTLC2):c.*1729G>A rs143610997 0.00712
NM_004863.4(SPTLC2):c.*4039T>C rs117131683 0.00665
NM_004863.4(SPTLC2):c.*4276G>A rs116794186 0.00575
NM_004863.4(SPTLC2):c.*2375C>T rs147416393 0.00492
NM_004863.4(SPTLC2):c.*3526A>T rs530009301 0.00491
NM_004863.4(SPTLC2):c.*2699C>A rs142877874 0.00475
NM_004863.4(SPTLC2):c.*4478C>A rs145218669 0.00466
NM_004863.4(SPTLC2):c.*1440G>T rs116702345 0.00458
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_004863.4(SPTLC2):c.*3274C>T rs114274991 0.00449
NM_004863.4(SPTLC2):c.*397G>T rs140766311 0.00442
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.*5892C>A rs140576195 0.00392
NM_004863.4(SPTLC2):c.*2338G>A rs148034053 0.00227
NM_004863.4(SPTLC2):c.*1709G>A rs146295173 0.00220
NM_004863.4(SPTLC2):c.*2645C>T rs78577388 0.00220
NM_004863.4(SPTLC2):c.*2749A>C rs138960830 0.00215
NM_004863.4(SPTLC2):c.*4131G>A rs45577834 0.00151
NM_004863.3(SPTLC2):c.-181C>G rs538010560 0.00089
NM_004863.4(SPTLC2):c.*2966G>A rs369681276 0.00061
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.*4108G>A rs140701933 0.00049
NM_004863.4(SPTLC2):c.*4030T>G rs185596488 0.00048
NM_004863.4(SPTLC2):c.*2794C>T rs191989490 0.00046
NM_004863.4(SPTLC2):c.*2962C>T rs561137941 0.00046
NM_004863.4(SPTLC2):c.*3261C>A rs566911644 0.00046
NM_004863.4(SPTLC2):c.*365A>G rs532673076 0.00046
NM_004863.4(SPTLC2):c.*3666T>G rs146602683 0.00042
NM_004863.4(SPTLC2):c.*4842A>C rs538809593 0.00036
NM_004863.4(SPTLC2):c.*695T>A rs192822567 0.00035
NM_004863.4(SPTLC2):c.*4115G>T rs542638116 0.00034
NM_004863.4(SPTLC2):c.*5799C>T rs142817152 0.00033
NM_004863.4(SPTLC2):c.*1612G>A rs769535377 0.00031
NM_004863.4(SPTLC2):c.561A>G (p.Ser187=) rs143934634 0.00029
NM_004863.4(SPTLC2):c.*4825C>T rs193215155 0.00028
NM_004863.4(SPTLC2):c.*2807C>G rs560223593 0.00025
NM_004863.3(SPTLC2):c.-160A>G rs886050852 0.00024
NM_004863.4(SPTLC2):c.851-5T>C rs199867946 0.00024
NM_004863.4(SPTLC2):c.*4037G>A rs144430502 0.00022
NM_004863.4(SPTLC2):c.*1457C>T rs542322275 0.00021
NM_004863.4(SPTLC2):c.*288C>T rs187745450 0.00021
NM_004863.4(SPTLC2):c.*5357A>G rs139325375 0.00018
NM_004863.4(SPTLC2):c.*536T>G rs45612439 0.00017
NM_004863.4(SPTLC2):c.*513C>T rs530076018 0.00015
NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=) rs539265514 0.00012
NM_004863.4(SPTLC2):c.*3931G>C rs371265800 0.00011
NM_004863.4(SPTLC2):c.*4107C>T rs991399387 0.00011
NM_004863.4(SPTLC2):c.*823G>T rs879635428 0.00011
NM_004863.4(SPTLC2):c.*100G>A rs535135686 0.00010
NM_004863.4(SPTLC2):c.*2186A>G rs377018367 0.00010
NM_004863.4(SPTLC2):c.*3315C>G rs886050839 0.00010
NM_004863.4(SPTLC2):c.763C>T (p.Leu255=) rs773905221 0.00010
NM_004863.4(SPTLC2):c.*4755C>T rs548820679 0.00009
NM_004863.4(SPTLC2):c.*542T>C rs758359564 0.00008
NM_004863.4(SPTLC2):c.*419C>T rs897879528 0.00007
NM_004863.4(SPTLC2):c.*838G>A rs760436119 0.00007
NM_004863.4(SPTLC2):c.*1153T>A rs749346501 0.00006
NM_004863.4(SPTLC2):c.*2622A>C rs762906175 0.00006
NM_004863.4(SPTLC2):c.*3785G>C rs996810849 0.00006
NM_004863.4(SPTLC2):c.*4948A>C rs886050832 0.00006
NM_004863.4(SPTLC2):c.*5852A>G rs753761374 0.00006
NM_004863.4(SPTLC2):c.-37C>T rs762618185 0.00006
NM_004863.4(SPTLC2):c.*3809T>C rs1021970499 0.00004
NM_004863.4(SPTLC2):c.-42A>G rs751107431 0.00004
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.*1521G>A rs886050846 0.00003
NM_004863.4(SPTLC2):c.*1622G>A rs1175716506 0.00003
NM_004863.4(SPTLC2):c.*3396A>G rs886050838 0.00003
NM_004863.4(SPTLC2):c.*3813G>A rs886050834 0.00003
NM_004863.4(SPTLC2):c.*697C>G rs187339967 0.00003
NM_004863.4(SPTLC2):c.*1193G>C rs532533522 0.00002
NM_004863.4(SPTLC2):c.*6018A>C rs886050830 0.00002
NM_004863.4(SPTLC2):c.1450C>T (p.Arg484Trp) rs765520235 0.00002
NM_004863.4(SPTLC2):c.*2275C>T rs886050843 0.00001
NM_004863.4(SPTLC2):c.*2314C>T rs886050842 0.00001
NM_004863.4(SPTLC2):c.*2672A>G rs1407394634 0.00001
NM_004863.4(SPTLC2):c.*3380A>G rs1462623596 0.00001
NM_004863.4(SPTLC2):c.*3454C>T rs886050837 0.00001
NM_004863.4(SPTLC2):c.*3457T>C rs886050836 0.00001
NM_004863.4(SPTLC2):c.*3819C>T rs112133015 0.00001
NM_004863.4(SPTLC2):c.*5032T>A rs892847100 0.00001
NM_004863.4(SPTLC2):c.*523C>T rs561128453 0.00001
NM_004863.4(SPTLC2):c.*5915T>C rs886050831 0.00001
NM_004863.4(SPTLC2):c.*6253T>C rs370412771 0.00001
NM_004863.4(SPTLC2):c.407G>A (p.Arg136Gln) rs760762454 0.00001
NM_004863.4(SPTLC2):c.502A>G (p.Lys168Glu) rs762005720 0.00001
NM_004863.3(SPTLC2):c.-187C>T rs554906103
NM_004863.4(SPTLC2):c.*1077A>T rs149194260
NM_004863.4(SPTLC2):c.*1185G>C rs917777276
NM_004863.4(SPTLC2):c.*135C>A rs886050850
NM_004863.4(SPTLC2):c.*152A>T rs886050849
NM_004863.4(SPTLC2):c.*1655G>C rs45480297
NM_004863.4(SPTLC2):c.*1658G>A rs2079327620
NM_004863.4(SPTLC2):c.*1832T>C rs886050845
NM_004863.4(SPTLC2):c.*1936A>T rs886050844
NM_004863.4(SPTLC2):c.*1997T>G rs2079325752
NM_004863.4(SPTLC2):c.*2716CT[1] rs140918232
NM_004863.4(SPTLC2):c.*2777G>A rs774328377
NM_004863.4(SPTLC2):c.*2847T>C rs1340846568
NM_004863.4(SPTLC2):c.*2910_*2912del rs145606197
NM_004863.4(SPTLC2):c.*2936_*2938dup rs200856836
NM_004863.4(SPTLC2):c.*2960C>T rs886050841
NM_004863.4(SPTLC2):c.*2981del rs545316519
NM_004863.4(SPTLC2):c.*303G>A rs886050848
NM_004863.4(SPTLC2):c.*3084A>G rs2079320176
NM_004863.4(SPTLC2):c.*3286C>T rs2079319191
NM_004863.4(SPTLC2):c.*3348G>T rs1173264442
NM_004863.4(SPTLC2):c.*3668G>A rs886050835
NM_004863.4(SPTLC2):c.*3876GTT[2] rs544851038
NM_004863.4(SPTLC2):c.*4052G>C rs2079315610
NM_004863.4(SPTLC2):c.*4089del rs149064904
NM_004863.4(SPTLC2):c.*4402G>A rs886050833
NM_004863.4(SPTLC2):c.*4493dup rs145656898
NM_004863.4(SPTLC2):c.*4682C>A rs2079311832
NM_004863.4(SPTLC2):c.*4950A>T rs955565700
NM_004863.4(SPTLC2):c.*5008G>A rs368524988
NM_004863.4(SPTLC2):c.*5303A>G rs2079308922
NM_004863.4(SPTLC2):c.*5510C>T rs2079307739
NM_004863.4(SPTLC2):c.*5989dup rs149453307
NM_004863.4(SPTLC2):c.*6068C>T rs1566763209
NM_004863.4(SPTLC2):c.*6169G>T rs2079303694
NM_004863.4(SPTLC2):c.*6T>G rs73319080
NM_004863.4(SPTLC2):c.*727C>T rs115976926
NM_004863.4(SPTLC2):c.*809C>A rs886050847
NM_004863.4(SPTLC2):c.*946C>A rs752351930
NM_004863.4(SPTLC2):c.*946C>T rs752351930
NM_004863.4(SPTLC2):c.-30G>A rs142320856
NM_004863.4(SPTLC2):c.-30G>T rs142320856
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala) rs577862696
NM_004863.4(SPTLC2):c.133-12C>T rs2079853345
NM_004863.4(SPTLC2):c.1569+8G>T rs577069180
NM_004863.4(SPTLC2):c.1570-13T>C rs886050851
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.620G>T (p.Arg207Leu) rs751801159
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.761G>C (p.Cys254Ser) rs572378641

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