ClinVar Miner

List of variants reported as uncertain significance for Hereditary sensory and autonomic neuropathy type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_006415.4(SPTLC1):c.1153G>A (p.Val385Met) rs373007603 0.00010
NM_006415.4(SPTLC1):c.888+3A>G rs367646576 0.00010
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) rs369803886 0.00009
NM_006415.4(SPTLC1):c.707G>C (p.Arg236Pro) rs765970732 0.00009
NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His) rs567541925 0.00008
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) rs748723735 0.00008
NM_006415.4(SPTLC1):c.1136+6T>C rs541932144 0.00006
NM_006415.4(SPTLC1):c.208G>T (p.Val70Phe) rs764460003 0.00006
NM_006415.4(SPTLC1):c.269G>A (p.Ser90Asn) rs946291571 0.00006
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) rs768841574 0.00006
NM_006415.4(SPTLC1):c.1213C>T (p.Arg405Cys) rs745684683 0.00005
NM_006415.4(SPTLC1):c.238C>G (p.Leu80Val) rs368960986 0.00005
NM_006415.4(SPTLC1):c.784A>G (p.Lys262Glu) rs139086093 0.00005
NM_006415.4(SPTLC1):c.940A>G (p.Ile314Val) rs199609730 0.00005
NM_006415.4(SPTLC1):c.1393A>G (p.Lys465Glu) rs773640417 0.00004
NM_006415.4(SPTLC1):c.889-5G>A rs763731160 0.00004
NM_006415.4(SPTLC1):c.1057C>T (p.Leu353Phe) rs1372273697 0.00003
NM_006415.4(SPTLC1):c.310G>A (p.Ala104Thr) rs143232538 0.00003
NM_006415.4(SPTLC1):c.640A>G (p.Met214Val) rs781435924 0.00003
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) rs371203080 0.00002
NM_006415.4(SPTLC1):c.1216G>A (p.Glu406Lys) rs750753414 0.00002
NM_006415.4(SPTLC1):c.1288C>T (p.Arg430Cys) rs143754785 0.00002
NM_006415.4(SPTLC1):c.165+4C>T rs750680286 0.00002
NM_006415.4(SPTLC1):c.451C>T (p.Arg151Cys) rs146548058 0.00002
NM_006415.4(SPTLC1):c.656G>A (p.Arg219Gln) rs373991190 0.00002
NM_006415.4(SPTLC1):c.907A>T (p.Ile303Phe) rs775359105 0.00002
NM_006415.4(SPTLC1):c.1066A>G (p.Met356Val) rs369506636 0.00001
NM_006415.4(SPTLC1):c.1126G>C (p.Ala376Pro) rs1280089627 0.00001
NM_006415.4(SPTLC1):c.1159G>T (p.Gly387Trp) rs1298409243 0.00001
NM_006415.4(SPTLC1):c.115C>A (p.Leu39Ile) rs1429250767 0.00001
NM_006415.4(SPTLC1):c.1204A>G (p.Thr402Ala) rs781421635 0.00001
NM_006415.4(SPTLC1):c.1255-3C>T rs766223452 0.00001
NM_006415.4(SPTLC1):c.1328G>C (p.Ser443Thr) rs1463416767 0.00001
NM_006415.4(SPTLC1):c.1329-1G>T rs756268983 0.00001
NM_006415.4(SPTLC1):c.1329-8G>A rs375601587 0.00001
NM_006415.4(SPTLC1):c.1346C>T (p.Thr449Met) rs1391275819 0.00001
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) rs150792865 0.00001
NM_006415.4(SPTLC1):c.139C>T (p.Gln47Ter) rs748093641 0.00001
NM_006415.4(SPTLC1):c.166-18A>G rs1738529763 0.00001
NM_006415.4(SPTLC1):c.250A>G (p.Ile84Val) rs375552986 0.00001
NM_006415.4(SPTLC1):c.253G>A (p.Val85Ile) rs140486014 0.00001
NM_006415.4(SPTLC1):c.261-5C>G rs762476726 0.00001
NM_006415.4(SPTLC1):c.265C>A (p.Pro89Thr) rs1223494730 0.00001
NM_006415.4(SPTLC1):c.342C>A (p.Asn114Lys) rs752029386 0.00001
NM_006415.4(SPTLC1):c.362C>G (p.Ala121Gly) rs769799806 0.00001
NM_006415.4(SPTLC1):c.428-1G>C rs776829771 0.00001
NM_006415.4(SPTLC1):c.457G>T (p.Ala153Ser) rs527406013 0.00001
NM_006415.4(SPTLC1):c.472A>G (p.Thr158Ala) rs779810169 0.00001
NM_006415.4(SPTLC1):c.487A>G (p.Ile163Val) rs1834354491 0.00001
NM_006415.4(SPTLC1):c.51T>G (p.Leu17=) rs1400591449 0.00001
NM_006415.4(SPTLC1):c.608G>A (p.Arg203His) rs778759719 0.00001
NM_006415.4(SPTLC1):c.616A>G (p.Ile206Val) rs749175480 0.00001
NM_006415.4(SPTLC1):c.652G>C (p.Glu218Gln) rs371402481 0.00001
NM_006415.4(SPTLC1):c.655C>T (p.Arg219Ter) rs758622840 0.00001
NM_006415.4(SPTLC1):c.661C>A (p.Leu221Ile) rs760231916 0.00001
NM_006415.4(SPTLC1):c.706C>T (p.Arg236Cys) rs1019261252 0.00001
NM_006415.4(SPTLC1):c.718C>T (p.Arg240Cys) rs769908505 0.00001
NM_006415.4(SPTLC1):c.745A>G (p.Met249Val) rs1279567220 0.00001
NM_006415.4(SPTLC1):c.785A>T (p.Lys262Met) rs748634825 0.00001
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln) rs771021842 0.00001
NM_006415.4(SPTLC1):c.889-3C>T rs1833569456 0.00001
NM_006415.4(SPTLC1):c.908T>C (p.Ile303Thr) rs766476735 0.00001
NM_006415.4(SPTLC1):c.910A>G (p.Ser304Gly) rs763065459 0.00001
NM_006415.4(SPTLC1):c.913G>A (p.Ala305Thr) rs199972180 0.00001
NM_006415.4(SPTLC1):c.974T>C (p.Ile325Thr) rs765166668 0.00001
NM_006415.4(SPTLC1):c.985-3C>T rs1265439769 0.00001
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827 0.00001
NC_000009.11:g.(?_94794747)_(94877652_?)del
NC_000009.11:g.(?_94794747)_(95527026_?)del
NC_000009.11:g.(?_94842278)_(94843265_?)del
NC_000009.12:g.(?_92032445)_(92115390_?)dup
NM_006415.4(SPTLC1):c.-1_19del (p.Met1fs)
NM_006415.4(SPTLC1):c.1030del (p.Leu344fs)
NM_006415.4(SPTLC1):c.1035dup (p.Ala346fs)
NM_006415.4(SPTLC1):c.1036G>C (p.Ala346Pro) rs1833545545
NM_006415.4(SPTLC1):c.1042G>A (p.Ala348Thr)
NM_006415.4(SPTLC1):c.1048A>G (p.Ile350Val)
NM_006415.4(SPTLC1):c.1054G>A (p.Ala352Thr) rs990974255
NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val) rs267607088
NM_006415.4(SPTLC1):c.1079C>T (p.Pro360Leu)
NM_006415.4(SPTLC1):c.1081+3A>C rs2118447428
NM_006415.4(SPTLC1):c.1084A>G (p.Ile362Val)
NM_006415.4(SPTLC1):c.1118_1123del (p.Ile373_His374del) rs2118439056
NM_006415.4(SPTLC1):c.1137-1G>A rs1833219877
NM_006415.4(SPTLC1):c.1150A>G (p.Lys384Glu) rs1833218770
NM_006415.4(SPTLC1):c.1160G>A (p.Gly387Glu) rs119482084
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.1163A>T (p.Glu388Val)
NM_006415.4(SPTLC1):c.1199A>G (p.Glu400Gly) rs2118372820
NM_006415.4(SPTLC1):c.1219C>T (p.Gln407Ter) rs1833214197
NM_006415.4(SPTLC1):c.122C>G (p.Ser41Cys)
NM_006415.4(SPTLC1):c.1255T>C (p.Cys419Arg)
NM_006415.4(SPTLC1):c.1259T>G (p.Met420Arg) rs376427329
NM_006415.4(SPTLC1):c.12_14del (p.Thr5del)
NM_006415.4(SPTLC1):c.1301A>C (p.Lys434Thr)
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del) rs777170186
NM_006415.4(SPTLC1):c.1312T>C (p.Cys438Arg)
NM_006415.4(SPTLC1):c.1319C>T (p.Pro440Leu)
NM_006415.4(SPTLC1):c.131dup (p.Tyr44Ter) rs1836286700
NM_006415.4(SPTLC1):c.1322C>T (p.Pro441Leu)
NM_006415.4(SPTLC1):c.132C>A (p.Tyr44Ter)
NM_006415.4(SPTLC1):c.1333C>T (p.Arg445Trp)
NM_006415.4(SPTLC1):c.1348G>A (p.Val450Met)
NM_006415.4(SPTLC1):c.1356_1359del (p.Thr453fs)
NM_006415.4(SPTLC1):c.1390A>G (p.Ile464Val)
NM_006415.4(SPTLC1):c.1394A>G (p.Lys465Arg)
NM_006415.4(SPTLC1):c.139del (p.Gln47fs) rs772853294
NM_006415.4(SPTLC1):c.1403C>T (p.Ala468Val)
NM_006415.4(SPTLC1):c.1422G>A (p.Ter474=) rs1832995665
NM_006415.4(SPTLC1):c.1422G>C (p.Ter474Tyr)
NM_006415.4(SPTLC1):c.145C>T (p.Arg49Ter) rs995221734
NM_006415.4(SPTLC1):c.165+5G>A
NM_006415.4(SPTLC1):c.19C>A (p.Gln7Lys)
NM_006415.4(SPTLC1):c.1A>G (p.Met1Val)
NM_006415.4(SPTLC1):c.205C>G (p.Leu69Val)
NM_006415.4(SPTLC1):c.20A>G (p.Gln7Arg)
NM_006415.4(SPTLC1):c.212C>T (p.Pro71Leu)
NM_006415.4(SPTLC1):c.21G>C (p.Gln7His)
NM_006415.4(SPTLC1):c.239T>G (p.Leu80Arg) rs2118826153
NM_006415.4(SPTLC1):c.251_252dup (p.Val85fs) rs2118826066
NM_006415.4(SPTLC1):c.260+1G>A
NM_006415.4(SPTLC1):c.280G>A (p.Val94Met)
NM_006415.4(SPTLC1):c.290G>A (p.Gly97Glu)
NM_006415.4(SPTLC1):c.325C>T (p.Leu109Phe)
NM_006415.4(SPTLC1):c.326T>C (p.Leu109Pro)
NM_006415.4(SPTLC1):c.329G>A (p.Gly110Glu) rs1834857269
NM_006415.4(SPTLC1):c.338A>G (p.Asp113Gly)
NM_006415.4(SPTLC1):c.349G>A (p.Val117Ile)
NM_006415.4(SPTLC1):c.350T>A (p.Val117Asp)
NM_006415.4(SPTLC1):c.355-2del rs2118673753
NM_006415.4(SPTLC1):c.367G>A (p.Ala123Thr) rs748384890
NM_006415.4(SPTLC1):c.378G>C (p.Lys126Asn) rs1403894821
NM_006415.4(SPTLC1):c.383A>G (p.Tyr128Cys)
NM_006415.4(SPTLC1):c.386del (p.Gly129fs) rs1554711394
NM_006415.4(SPTLC1):c.388G>A (p.Val130Met) rs200773661
NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg) rs1587953587
NM_006415.4(SPTLC1):c.41T>C (p.Val14Ala)
NM_006415.4(SPTLC1):c.428A>G (p.Asp143Gly) rs764072897
NM_006415.4(SPTLC1):c.436T>G (p.Leu146Val) rs1834357727
NM_006415.4(SPTLC1):c.443T>C (p.Leu148Ser) rs1834357241
NM_006415.4(SPTLC1):c.461A>C (p.Lys154Thr)
NM_006415.4(SPTLC1):c.470A>G (p.Lys157Arg) rs1255312189
NM_006415.4(SPTLC1):c.472A>T (p.Thr158Ser) rs779810169
NM_006415.4(SPTLC1):c.478G>T (p.Glu160Ter)
NM_006415.4(SPTLC1):c.47C>G (p.Ala16Gly)
NM_006415.4(SPTLC1):c.494C>T (p.Ser165Leu) rs1834354293
NM_006415.4(SPTLC1):c.496T>C (p.Tyr166His)
NM_006415.4(SPTLC1):c.509C>T (p.Thr170Ile)
NM_006415.4(SPTLC1):c.524T>C (p.Ile175Thr) rs747649997
NM_006415.4(SPTLC1):c.533A>G (p.Tyr178Cys)
NM_006415.4(SPTLC1):c.547G>A (p.Asp183Asn)
NM_006415.4(SPTLC1):c.560+4A>G
NM_006415.4(SPTLC1):c.632A>G (p.His211Arg) rs1587929348
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu) rs781435924
NM_006415.4(SPTLC1):c.649C>G (p.Leu217Val) rs1834002962
NM_006415.4(SPTLC1):c.652G>A (p.Glu218Lys) rs371402481
NM_006415.4(SPTLC1):c.655del (p.Arg219fs)
NM_006415.4(SPTLC1):c.667G>T (p.Glu223Ter) rs1834001897
NM_006415.4(SPTLC1):c.685C>G (p.Gln229Glu) rs865920055
NM_006415.4(SPTLC1):c.690+1G>A
NM_006415.4(SPTLC1):c.690+6A>T rs1834000589
NM_006415.4(SPTLC1):c.690G>C (p.Lys230Asn) rs1321207825
NM_006415.4(SPTLC1):c.691-2A>G
NM_006415.4(SPTLC1):c.695C>T (p.Pro232Leu)
NM_006415.4(SPTLC1):c.698G>A (p.Arg233His)
NM_006415.4(SPTLC1):c.698G>T (p.Arg233Leu)
NM_006415.4(SPTLC1):c.707G>A (p.Arg236His) rs765970732
NM_006415.4(SPTLC1):c.712A>G (p.Thr238Ala) rs1833857483
NM_006415.4(SPTLC1):c.716G>A (p.Arg239Gln)
NM_006415.4(SPTLC1):c.719G>A (p.Arg240His)
NM_006415.4(SPTLC1):c.71A>G (p.His24Arg) rs1587626442
NM_006415.4(SPTLC1):c.731T>C (p.Val244Ala)
NM_006415.4(SPTLC1):c.743A>G (p.Tyr248Cys)
NM_006415.4(SPTLC1):c.795C>G (p.Tyr265Ter)
NM_006415.4(SPTLC1):c.801C>G (p.Tyr267Ter)
NM_006415.4(SPTLC1):c.806C>G (p.Ala269Gly) rs1833654335
NM_006415.4(SPTLC1):c.811A>C (p.Ile271Leu) rs944769022
NM_006415.4(SPTLC1):c.813C>G (p.Ile271Met) rs1587918415
NM_006415.4(SPTLC1):c.832T>G (p.Ser278Ala)
NM_006415.4(SPTLC1):c.833C>T (p.Ser278Leu)
NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter) rs779016234
NM_006415.4(SPTLC1):c.888+5G>T rs760514210
NM_006415.4(SPTLC1):c.889-18C>G rs578230561
NM_006415.4(SPTLC1):c.899T>C (p.Ile300Thr)
NM_006415.4(SPTLC1):c.919A>G (p.Met307Val) rs1554706531
NM_006415.4(SPTLC1):c.935C>A (p.Ala312Asp) rs2118451537
NM_006415.4(SPTLC1):c.940A>C (p.Ile314Leu)
NM_006415.4(SPTLC1):c.947G>T (p.Gly316Val)
NM_006415.4(SPTLC1):c.952T>A (p.Cys318Ser)
NM_006415.4(SPTLC1):c.964T>C (p.Ser322Pro)
NM_006415.4(SPTLC1):c.970G>A (p.Val324Ile)
NM_006415.4(SPTLC1):c.983A>T (p.Gln328Leu) rs1354356903
NM_006415.4(SPTLC1):c.984+5del
NM_006415.4(SPTLC1):c.985-2A>C rs2118448499
NM_006415.4(SPTLC1):c.994G>A (p.Gly332Ser)

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