ClinVar Miner

List of variants studied for Hereditary sensory and autonomic neuropathy type IC by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP
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.1050C>T (p.Gly350=) rs539265514
NM_004863.3(SPTLC2):c.1128G>A (p.Thr376=) rs773806229
NM_004863.3(SPTLC2):c.1176+7G>A rs74063297
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.1428T>G (p.Pro476=) rs34418677
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.1470C>T (p.Asn490=) rs374657234
NM_004863.3(SPTLC2):c.1569+8G>T rs577069180
NM_004863.3(SPTLC2):c.1570-13T>C rs886050851
NM_004863.3(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.3(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708
NM_004863.3(SPTLC2):c.407G>A (p.Arg136Gln) rs760762454
NM_004863.3(SPTLC2):c.506G>C (p.Gly169Ala) rs75565823
NM_004863.3(SPTLC2):c.561A>G (p.Ser187=) rs143934634
NM_004863.3(SPTLC2):c.620G>T (p.Arg207Leu) rs751801159
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.761G>C (p.Cys254Ser) rs572378641
NM_004863.3(SPTLC2):c.763C>T (p.Leu255=) rs773905221
NM_004863.3(SPTLC2):c.786T>C (p.Asn262=) rs2364602
NM_004863.3(SPTLC2):c.851-5T>C rs199867946
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.133-12C>T
NM_004863.4(SPTLC2):c.502A>G (p.Lys168Glu)

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