ClinVar Miner

List of variants in gene SPTLC2 reported as benign for Neuropathy, hereditary sensory and autonomic, type 1C

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.1177-49G>A rs2178876 0.95724
NM_004863.4(SPTLC2):c.*4645A>G rs10132095 0.95595
NM_004863.4(SPTLC2):c.*3612T>A rs2364160 0.95467
NM_004863.4(SPTLC2):c.786T>C (p.Asn262=) rs2364602 0.84015
NM_004863.4(SPTLC2):c.*4673_*4674insTG rs58831828 0.83371
NM_004863.4(SPTLC2):c.*3524A>C rs1063270 0.75189
NM_004863.4(SPTLC2):c.*2302A>G rs11159269 0.74610
NM_004863.4(SPTLC2):c.*3637G>A rs1063271 0.74276
NM_004863.4(SPTLC2):c.1304-34G>T rs2072672 0.70676
NM_004863.4(SPTLC2):c.*4446G>T rs11159268 0.54169
NM_004863.4(SPTLC2):c.632-49del rs11344772 0.47249
NM_004863.4(SPTLC2):c.851-30G>C rs2272587 0.46203
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 0.07254
NM_004863.4(SPTLC2):c.*5531A>G rs17105886 0.05948
NM_004863.4(SPTLC2):c.*6080C>G rs56040359 0.05057
NM_004863.4(SPTLC2):c.*1742C>T rs9323644 0.03459
NM_004863.4(SPTLC2):c.*4914C>T rs150007923 0.02739
NM_004863.4(SPTLC2):c.*4198C>T rs143542715 0.02594
NM_004863.4(SPTLC2):c.*5358T>C rs8021886 0.02591
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 0.01128
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 0.00864
NM_004863.4(SPTLC2):c.*4039T>C rs117131683 0.00665
NM_004863.4(SPTLC2):c.*1729G>A rs143610997 0.00653
NM_004863.4(SPTLC2):c.*4276G>A rs116794186 0.00575
NM_004863.4(SPTLC2):c.1227G>A (p.Thr409=) rs9323646 0.00560
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.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.*1440G>T rs116702345 0.00440
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 0.00361
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 0.00215
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 0.00081
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 0.00050
NM_004863.4(SPTLC2):c.*4030T>G rs185596488 0.00048
NM_004863.4(SPTLC2):c.*4108G>A rs140701933 0.00048
NM_004863.4(SPTLC2):c.*288C>T rs187745450 0.00046
NM_004863.4(SPTLC2):c.*2962C>T rs561137941 0.00045
NM_004863.4(SPTLC2):c.1603T>C (p.Leu535=) rs34017190 0.00043
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.*5799C>T rs142817152 0.00033
NM_004863.4(SPTLC2):c.561A>G (p.Ser187=) rs143934634 0.00029
NM_004863.4(SPTLC2):c.851-5T>C rs199867946 0.00023
NM_004863.4(SPTLC2):c.*4037G>A rs144430502 0.00022
NM_004863.4(SPTLC2):c.957-20A>T rs777105588 0.00016
NM_004863.4(SPTLC2):c.*513C>T rs530076018 0.00015
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser) rs572378641 0.00014
NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=) rs539265514 0.00013
NM_004863.4(SPTLC2):c.174G>A (p.Pro58=) rs373828710 0.00012
NM_004863.4(SPTLC2):c.*3931G>C rs371265800 0.00011
NM_004863.4(SPTLC2):c.-42A>G rs751107431 0.00011
NM_004863.4(SPTLC2):c.*2186A>G rs377018367 0.00010
NM_004863.4(SPTLC2):c.763C>T (p.Leu255=) rs773905221 0.00010
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.1203T>C (p.His401=) rs751416317 0.00003
NM_004863.4(SPTLC2):c.756+10T>C rs772919286 0.00003
NM_004863.3(SPTLC2):c.-187C>T rs554906103 0.00001
NM_004863.4(SPTLC2):c.*523C>T rs561128453 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.*1655G>C rs45480297
NM_004863.4(SPTLC2):c.*2716CT[1] rs140918232
NM_004863.4(SPTLC2):c.*2910_*2912del rs145606197
NM_004863.4(SPTLC2):c.*4089del rs149064904
NM_004863.4(SPTLC2):c.*6T>G rs73319080
NM_004863.4(SPTLC2):c.*727C>T rs115976926
NM_004863.4(SPTLC2):c.-30G>T rs142320856
NM_004863.4(SPTLC2):c.105AGCCGC[2] (p.Ala41_Ala42del) rs577436926
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala) rs577862696
NM_004863.4(SPTLC2):c.1569+8G>T rs577069180
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.666T>C (p.Leu222=) rs185957601
NM_004863.4(SPTLC2):c.723G>A (p.Thr241=) rs114519796
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=) rs114519796

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