ClinVar Miner

List of variants reported as uncertain significance 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: 78
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HGVS dbSNP
NM_004863.3(SPTLC2):c.*100G>A rs535135686
NM_004863.3(SPTLC2):c.*1077A>T rs149194260
NM_004863.3(SPTLC2):c.*1153T>A rs749346501
NM_004863.3(SPTLC2):c.*1193G>C rs532533522
NM_004863.3(SPTLC2):c.*135C>A rs886050850
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.*1832T>C rs886050845
NM_004863.3(SPTLC2):c.*1936A>T rs886050844
NM_004863.3(SPTLC2):c.*2275C>T rs886050843
NM_004863.3(SPTLC2):c.*2314C>T rs886050842
NM_004863.3(SPTLC2):c.*2622A>C rs762906175
NM_004863.3(SPTLC2):c.*2794C>T rs191989490
NM_004863.3(SPTLC2):c.*2960C>T rs886050841
NM_004863.3(SPTLC2):c.*2981del rs545316519
NM_004863.3(SPTLC2):c.*303G>A rs886050848
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.*3668G>A rs886050835
NM_004863.3(SPTLC2):c.*3813G>A rs886050834
NM_004863.3(SPTLC2):c.*4115G>T rs542638116
NM_004863.3(SPTLC2):c.*4402G>A rs886050833
NM_004863.3(SPTLC2):c.*4493dup rs145656898
NM_004863.3(SPTLC2):c.*4755C>T rs548820679
NM_004863.3(SPTLC2):c.*4825C>T rs193215155
NM_004863.3(SPTLC2):c.*4948A>C rs886050832
NM_004863.3(SPTLC2):c.*5008G>A rs368524988
NM_004863.3(SPTLC2):c.*5357A>G rs139325375
NM_004863.3(SPTLC2):c.*536T>G rs45612439
NM_004863.3(SPTLC2):c.*542T>C rs758359564
NM_004863.3(SPTLC2):c.*5915T>C rs886050831
NM_004863.3(SPTLC2):c.*6018A>C rs886050830
NM_004863.3(SPTLC2):c.*695T>A rs192822567
NM_004863.3(SPTLC2):c.*697C>G rs187339967
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.-37C>T rs762618185
NM_004863.3(SPTLC2):c.1450C>T (p.Arg484Trp) rs765520235
NM_004863.3(SPTLC2):c.1570-13T>C rs886050851
NM_004863.3(SPTLC2):c.620G>T (p.Arg207Leu) rs751801159
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.*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.*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.*3785G>C
NM_004863.4(SPTLC2):c.*3809T>C
NM_004863.4(SPTLC2):c.*3819C>T
NM_004863.4(SPTLC2):c.*4052G>C
NM_004863.4(SPTLC2):c.*4107C>T
NM_004863.4(SPTLC2):c.*419C>T
NM_004863.4(SPTLC2):c.*4682C>A
NM_004863.4(SPTLC2):c.*4950A>T
NM_004863.4(SPTLC2):c.*5032T>A
NM_004863.4(SPTLC2):c.*5303A>G
NM_004863.4(SPTLC2):c.*5510C>T
NM_004863.4(SPTLC2):c.*5852A>G
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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