ClinVar Miner

List of variants studied for Hereditary sensory and autonomic neuropathy type IC

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
Download table as spreadsheet
HGVS dbSNP
NC_000014.8:g.(?_77743699)_(78082942_?)dup
NC_000014.8:g.(?_77978617)_(78082932_?)dup
NC_000014.8:g.(?_78045288)_(78045462_?)dup
NC_000014.9:g.(?_77512274)_(77579119_?)dup
NC_000014.9:g.(?_77616438)_(77616589_?)del
NM_004863.3(SPTLC2):c.*100G>A rs535135686
NM_004863.3(SPTLC2):c.*1014C>T rs116563416
NM_004863.3(SPTLC2):c.*1077A>T rs149194260
NM_004863.3(SPTLC2):c.*1134T>C rs17751562
NM_004863.3(SPTLC2):c.*1153T>A rs749346501
NM_004863.3(SPTLC2):c.*1193G>C rs532533522
NM_004863.3(SPTLC2):c.*1221A>G rs80244932
NM_004863.3(SPTLC2):c.*135C>A rs886050850
NM_004863.3(SPTLC2):c.*1440G>T rs116702345
NM_004863.3(SPTLC2):c.*1457C>T rs542322275
NM_004863.3(SPTLC2):c.*1521G>A rs886050846
NM_004863.3(SPTLC2):c.*152A>T rs886050849
NM_004863.3(SPTLC2):c.*1655G>C rs45480297
NM_004863.3(SPTLC2):c.*1709G>A rs146295173
NM_004863.3(SPTLC2):c.*1729G>A rs143610997
NM_004863.3(SPTLC2):c.*1742C>T rs9323644
NM_004863.3(SPTLC2):c.*1832T>C rs886050845
NM_004863.3(SPTLC2):c.*1936A>T rs886050844
NM_004863.3(SPTLC2):c.*2159A>G rs45493395
NM_004863.3(SPTLC2):c.*2177A>C rs17824567
NM_004863.3(SPTLC2):c.*2186A>G rs377018367
NM_004863.3(SPTLC2):c.*2275C>T rs886050843
NM_004863.3(SPTLC2):c.*2302A>G rs11159269
NM_004863.3(SPTLC2):c.*2314C>T rs886050842
NM_004863.3(SPTLC2):c.*2338G>A rs148034053
NM_004863.3(SPTLC2):c.*2622A>C rs762906175
NM_004863.3(SPTLC2):c.*2645C>T rs78577388
NM_004863.3(SPTLC2):c.*2699C>A rs142877874
NM_004863.3(SPTLC2):c.*2702G>A rs10147023
NM_004863.3(SPTLC2):c.*2718_*2719delCT rs140918232
NM_004863.3(SPTLC2):c.*2749A>C rs138960830
NM_004863.3(SPTLC2):c.*2794C>T rs191989490
NM_004863.3(SPTLC2):c.*288C>T rs187745450
NM_004863.3(SPTLC2):c.*2910_*2912del rs145606197
NM_004863.3(SPTLC2):c.*2936_*2938dup rs200856836
NM_004863.3(SPTLC2):c.*2960C>T rs886050841
NM_004863.3(SPTLC2):c.*2966G>A rs369681276
NM_004863.3(SPTLC2):c.*2981del rs545316519
NM_004863.3(SPTLC2):c.*3034C>G rs75977251
NM_004863.3(SPTLC2):c.*303G>A rs886050848
NM_004863.3(SPTLC2):c.*3224C>T rs77200167
NM_004863.3(SPTLC2):c.*3274C>T rs114274991
NM_004863.3(SPTLC2):c.*3315C>G rs886050839
NM_004863.3(SPTLC2):c.*3396A>G rs886050838
NM_004863.3(SPTLC2):c.*3454C>T rs886050837
NM_004863.3(SPTLC2):c.*3457T>C rs886050836
NM_004863.3(SPTLC2):c.*3524A>C rs1063270
NM_004863.3(SPTLC2):c.*3526A>T rs530009301
NM_004863.3(SPTLC2):c.*3612T>A rs2364160
NM_004863.3(SPTLC2):c.*3637G>A rs1063271
NM_004863.3(SPTLC2):c.*3668G>A rs886050835
NM_004863.3(SPTLC2):c.*3812C>T rs74730673
NM_004863.3(SPTLC2):c.*3813G>A rs886050834
NM_004863.3(SPTLC2):c.*3882_*3884delGTT rs544851038
NM_004863.3(SPTLC2):c.*3931G>C rs371265800
NM_004863.3(SPTLC2):c.*397G>T rs140766311
NM_004863.3(SPTLC2):c.*4037G>A rs144430502
NM_004863.3(SPTLC2):c.*4039T>C rs117131683
NM_004863.3(SPTLC2):c.*4089del rs149064904
NM_004863.3(SPTLC2):c.*4115G>T rs542638116
NM_004863.3(SPTLC2):c.*4131G>A rs45577834
NM_004863.3(SPTLC2):c.*4198C>T rs143542715
NM_004863.3(SPTLC2):c.*4402G>A rs886050833
NM_004863.3(SPTLC2):c.*4431G>T rs75823402
NM_004863.3(SPTLC2):c.*4446G>T rs11159268
NM_004863.3(SPTLC2):c.*4478C>A rs145218669
NM_004863.3(SPTLC2):c.*4493dup rs145656898
NM_004863.3(SPTLC2):c.*4503A>G rs78947178
NM_004863.3(SPTLC2):c.*4645A>G rs10132095
NM_004863.3(SPTLC2):c.*4673_*4674insTG rs58831828
NM_004863.3(SPTLC2):c.*4755C>T rs548820679
NM_004863.3(SPTLC2):c.*4825C>T rs193215155
NM_004863.3(SPTLC2):c.*4914C>T rs150007923
NM_004863.3(SPTLC2):c.*4948A>C rs886050832
NM_004863.3(SPTLC2):c.*5008G>A rs368524988
NM_004863.3(SPTLC2):c.*523C>T rs561128453
NM_004863.3(SPTLC2):c.*5357A>G rs139325375
NM_004863.3(SPTLC2):c.*5358T>C rs8021886
NM_004863.3(SPTLC2):c.*536T>G rs45612439
NM_004863.3(SPTLC2):c.*5395C>G rs13430
NM_004863.3(SPTLC2):c.*542T>C rs758359564
NM_004863.3(SPTLC2):c.*5531A>G rs17105886
NM_004863.3(SPTLC2):c.*5915T>C rs886050831
NM_004863.3(SPTLC2):c.*5989dup rs149453307
NM_004863.3(SPTLC2):c.*6018A>C rs886050830
NM_004863.3(SPTLC2):c.*6080C>G rs56040359
NM_004863.3(SPTLC2):c.*6253T>C rs370412771
NM_004863.3(SPTLC2):c.*695T>A rs192822567
NM_004863.3(SPTLC2):c.*697C>G rs187339967
NM_004863.3(SPTLC2):c.*6T>G rs73319080
NM_004863.3(SPTLC2):c.*727C>T rs115976926
NM_004863.3(SPTLC2):c.*809C>A rs886050847
NM_004863.3(SPTLC2):c.*823G>T rs879635428
NM_004863.3(SPTLC2):c.*838G>A rs760436119
NM_004863.3(SPTLC2):c.-160A>G rs886050852
NM_004863.3(SPTLC2):c.-181C>G rs538010560
NM_004863.3(SPTLC2):c.-187C>T rs554906103
NM_004863.3(SPTLC2):c.-30G>A rs142320856
NM_004863.3(SPTLC2):c.-30G>T rs142320856
NM_004863.3(SPTLC2):c.-37C>T rs762618185
NM_004863.3(SPTLC2):c.-42A>G rs751107431
NM_004863.3(SPTLC2):c.-43C>T rs7155278
NM_004863.3(SPTLC2):c.1032T>G (p.Asp344Glu) rs1555375334
NM_004863.3(SPTLC2):c.1035G>A (p.Glu345=) rs1566778601
NM_004863.3(SPTLC2):c.1050C>T (p.Gly350=) rs539265514
NM_004863.3(SPTLC2):c.1070G>A (p.Arg357Gln) rs375669404
NM_004863.3(SPTLC2):c.109G>T (p.Ala37Ser) rs1245435236
NM_004863.3(SPTLC2):c.1128G>A (p.Thr376=) rs773806229
NM_004863.3(SPTLC2):c.1145G>T (p.Gly382Val) rs267607089
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) rs1594986869
NM_004863.3(SPTLC2):c.1172A>G (p.Lys391Arg) rs114940503
NM_004863.3(SPTLC2):c.1176+7G>A rs74063297
NM_004863.3(SPTLC2):c.117_122del rs577436926
NM_004863.3(SPTLC2):c.1196G>A (p.Arg399Gln) rs143757018
NM_004863.3(SPTLC2):c.119_121CCG[5] (p.Ala41_Ala42dup) rs1555379635
NM_004863.3(SPTLC2):c.1226C>A (p.Thr409Lys) rs368357970
NM_004863.3(SPTLC2):c.1227G>A (p.Thr409=) rs9323646
NM_004863.3(SPTLC2):c.122C>T (p.Ala41Val) rs1397356644
NM_004863.3(SPTLC2):c.1239T>C (p.Pro413=) rs140041902
NM_004863.3(SPTLC2):c.1247T>C (p.Val416Ala) rs577862696
NM_004863.3(SPTLC2):c.1303+9T>G rs757545220
NM_004863.3(SPTLC2):c.1313G>A (p.Cys438Tyr) rs116342919
NM_004863.3(SPTLC2):c.132+5G>T rs1442394746
NM_004863.3(SPTLC2):c.1320A>G (p.Gln440=) rs377233305
NM_004863.3(SPTLC2):c.135C>G (p.Ile45Met) rs1595013409
NM_004863.3(SPTLC2):c.1428T>G (p.Pro476=) rs34418677
NM_004863.3(SPTLC2):c.1439+4C>T rs1035407081
NM_004863.3(SPTLC2):c.1449A>T (p.Gly483=) rs149054777
NM_004863.3(SPTLC2):c.1450C>T (p.Arg484Trp) rs765520235
NM_004863.3(SPTLC2):c.1451G>A (p.Arg484Gln) rs755350573
NM_004863.3(SPTLC2):c.1470C>T (p.Asn490=) rs374657234
NM_004863.3(SPTLC2):c.1481T>C (p.Val494Ala) rs1555372983
NM_004863.3(SPTLC2):c.1546C>T (p.His516Tyr) rs1555372980
NM_004863.3(SPTLC2):c.1569+8G>T rs577069180
NM_004863.3(SPTLC2):c.1570-13T>C rs886050851
NM_004863.3(SPTLC2):c.1603T>C (p.Leu535=) rs34017190
NM_004863.3(SPTLC2):c.1614G>A (p.Lys538=) rs143770506
NM_004863.3(SPTLC2):c.1622G>A (p.Arg541His) rs375384785
NM_004863.3(SPTLC2):c.1628G>A (p.Arg543Gln) rs763898397
NM_004863.3(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.3(SPTLC2):c.163T>C (p.Tyr55His) rs1273884598
NM_004863.3(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708
NM_004863.3(SPTLC2):c.166A>G (p.Lys56Glu) rs1251070277
NM_004863.3(SPTLC2):c.174G>A (p.Pro58=) rs373828710
NM_004863.3(SPTLC2):c.245C>T (p.Thr82Ile) rs1555378043
NM_004863.3(SPTLC2):c.255A>G (p.Gly85=) rs771876630
NM_004863.3(SPTLC2):c.263G>A (p.Arg88Gln) rs748168089
NM_004863.3(SPTLC2):c.301C>T (p.His101Tyr) rs1595013256
NM_004863.3(SPTLC2):c.327+5C>G rs1385358452
NM_004863.3(SPTLC2):c.350A>G (p.Asp117Gly) rs1595002005
NM_004863.3(SPTLC2):c.355G>A (p.Glu119Lys) rs1595002000
NM_004863.3(SPTLC2):c.398A>G (p.Asn133Ser) rs1555376645
NM_004863.3(SPTLC2):c.406C>T (p.Arg136Trp) rs116730455
NM_004863.3(SPTLC2):c.407G>A (p.Arg136Gln) rs760762454
NM_004863.3(SPTLC2):c.414C>T (p.Ile138=) rs1364157223
NM_004863.3(SPTLC2):c.415T>C (p.Cys139Arg) rs150036058
NM_004863.3(SPTLC2):c.432C>T (p.Ala144=) rs139381733
NM_004863.3(SPTLC2):c.445A>G (p.Met149Val) rs1309964279
NM_004863.3(SPTLC2):c.44G>A (p.Arg15Gln) rs1164824967
NM_004863.3(SPTLC2):c.460C>A (p.His154Asn) rs1205341271
NM_004863.3(SPTLC2):c.496A>T (p.Ile166Leu) rs1355725205
NM_004863.3(SPTLC2):c.506G>C (p.Gly169Ala) rs75565823
NM_004863.3(SPTLC2):c.529A>G (p.Asn177Asp) rs1131691917
NM_004863.3(SPTLC2):c.538G>C (p.Gly180Arg) rs1250368224
NM_004863.3(SPTLC2):c.544G>C (p.Ala182Pro) rs864621998
NM_004863.3(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084
NM_004863.3(SPTLC2):c.561A>G (p.Ser187=) rs143934634
NM_004863.3(SPTLC2):c.565C>A (p.Gln189Lys) rs1216165779
NM_004863.3(SPTLC2):c.575C>T (p.Ala192Val) rs776071727
NM_004863.3(SPTLC2):c.612C>T (p.Cys204=) rs115500562
NM_004863.3(SPTLC2):c.620G>A (p.Arg207Gln) rs751801159
NM_004863.3(SPTLC2):c.620G>T (p.Arg207Leu) rs751801159
NM_004863.3(SPTLC2):c.648T>G (p.His216Gln) rs374561654
NM_004863.3(SPTLC2):c.701C>T (p.Ala234Val) rs761202531
NM_004863.3(SPTLC2):c.702_708del (p.Tyr235fs) rs1594996545
NM_004863.3(SPTLC2):c.70G>C (p.Glu24Gln) rs1555379648
NM_004863.3(SPTLC2):c.723G>A (p.Thr241=) rs114519796
NM_004863.3(SPTLC2):c.723G>T (p.Thr241=) rs114519796
NM_004863.3(SPTLC2):c.747T>C (p.Leu249=) rs148535125
NM_004863.3(SPTLC2):c.760T>C (p.Cys254Arg) rs767182140
NM_004863.3(SPTLC2):c.761G>C (p.Cys254Ser) rs572378641
NM_004863.3(SPTLC2):c.763C>T (p.Leu255=) rs773905221
NM_004863.3(SPTLC2):c.768T>G (p.Ile256Met) rs879254003
NM_004863.3(SPTLC2):c.786T>C (p.Asn262=) rs2364602
NM_004863.3(SPTLC2):c.851-5T>C rs199867946
NM_004863.3(SPTLC2):c.890T>C (p.Val297Ala) rs370170064
NM_004863.3(SPTLC2):c.900G>A (p.Gln300=) rs571524943
NM_004863.3(SPTLC2):c.905G>A (p.Arg302Gln) rs766660719
NM_004863.3(SPTLC2):c.911G>A (p.Arg304Gln) rs761038205
NM_004863.3(SPTLC2):c.977G>A (p.Arg326His) rs116822112
NM_004863.3(SPTLC2):c.994G>T (p.Ala332Ser) rs767978353
NM_004863.3(SPTLC2):c.99C>A (p.Ser33Arg) rs763621248
NM_004863.4(SPTLC2):c.*1185G>C
NM_004863.4(SPTLC2):c.*1612G>A
NM_004863.4(SPTLC2):c.*1622G>A
NM_004863.4(SPTLC2):c.*1658G>A
NM_004863.4(SPTLC2):c.*1997T>G
NM_004863.4(SPTLC2):c.*2375C>T
NM_004863.4(SPTLC2):c.*2672A>G
NM_004863.4(SPTLC2):c.*2777G>A
NM_004863.4(SPTLC2):c.*2807C>G
NM_004863.4(SPTLC2):c.*2847T>C
NM_004863.4(SPTLC2):c.*2962C>T
NM_004863.4(SPTLC2):c.*3084A>G
NM_004863.4(SPTLC2):c.*3261C>A
NM_004863.4(SPTLC2):c.*3286C>T
NM_004863.4(SPTLC2):c.*3348G>T
NM_004863.4(SPTLC2):c.*3380A>G
NM_004863.4(SPTLC2):c.*365A>G
NM_004863.4(SPTLC2):c.*3666T>G
NM_004863.4(SPTLC2):c.*3785G>C
NM_004863.4(SPTLC2):c.*3809T>C
NM_004863.4(SPTLC2):c.*3819C>T
NM_004863.4(SPTLC2):c.*4030T>G
NM_004863.4(SPTLC2):c.*4052G>C
NM_004863.4(SPTLC2):c.*4107C>T
NM_004863.4(SPTLC2):c.*4108G>A
NM_004863.4(SPTLC2):c.*419C>T
NM_004863.4(SPTLC2):c.*4276G>A
NM_004863.4(SPTLC2):c.*4682C>A
NM_004863.4(SPTLC2):c.*4842A>C
NM_004863.4(SPTLC2):c.*4950A>T
NM_004863.4(SPTLC2):c.*5032T>A
NM_004863.4(SPTLC2):c.*513C>T
NM_004863.4(SPTLC2):c.*5303A>G
NM_004863.4(SPTLC2):c.*5510C>T
NM_004863.4(SPTLC2):c.*5799C>T
NM_004863.4(SPTLC2):c.*5852A>G
NM_004863.4(SPTLC2):c.*5892C>A
NM_004863.4(SPTLC2):c.*6068C>T
NM_004863.4(SPTLC2):c.*6169G>T
NM_004863.4(SPTLC2):c.*946C>A
NM_004863.4(SPTLC2):c.*946C>T
NM_004863.4(SPTLC2):c.105AGCCGC[4] (p.Ala41_Ala42dup) rs577436926
NM_004863.4(SPTLC2):c.1118T>C (p.Met373Thr)
NM_004863.4(SPTLC2):c.1144G>C (p.Gly382Arg)
NM_004863.4(SPTLC2):c.116_127del (p.Ala39_Ala42del)
NM_004863.4(SPTLC2):c.1213G>A (p.Ala405Thr)
NM_004863.4(SPTLC2):c.1217T>C (p.Val406Ala)
NM_004863.4(SPTLC2):c.1288G>C (p.Asp430His)
NM_004863.4(SPTLC2):c.133-12C>T
NM_004863.4(SPTLC2):c.13C>T (p.Pro5Ser)
NM_004863.4(SPTLC2):c.1439+5G>A
NM_004863.4(SPTLC2):c.1511T>C (p.Ile504Thr)
NM_004863.4(SPTLC2):c.187T>C (p.Phe63Leu)
NM_004863.4(SPTLC2):c.238G>A (p.Val80Ile)
NM_004863.4(SPTLC2):c.248T>G (p.Leu83Arg)
NM_004863.4(SPTLC2):c.35G>C (p.Arg12Pro)
NM_004863.4(SPTLC2):c.418A>G (p.Ser140Gly)
NM_004863.4(SPTLC2):c.430G>A (p.Ala144Thr)
NM_004863.4(SPTLC2):c.455A>G (p.Gln152Arg)
NM_004863.4(SPTLC2):c.502A>G (p.Lys168Glu)
NM_004863.4(SPTLC2):c.533A>G (p.Tyr178Cys)
NM_004863.4(SPTLC2):c.610T>G (p.Cys204Gly)
NM_004863.4(SPTLC2):c.736A>G (p.Ile246Val)
NM_004863.4(SPTLC2):c.737T>C (p.Ile246Thr)
NM_004863.4(SPTLC2):c.756+6A>G
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys)
NM_004863.4(SPTLC2):c.842A>G (p.Lys281Arg)
NM_004863.4(SPTLC2):c.865G>C (p.Glu289Gln)
NM_004863.4(SPTLC2):c.934A>G (p.Ile312Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.