ClinVar Miner

List of variants reported as benign for Hereditary sensory and autonomic neuropathy type IC by Invitae

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Total variants: 15
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HGVS dbSNP
NM_004863.3(SPTLC2):c.1128G>A (p.Thr376=) rs773806229
NM_004863.3(SPTLC2):c.1176+7G>A rs74063297
NM_004863.3(SPTLC2):c.117_122del rs577436926
NM_004863.3(SPTLC2):c.1227G>A (p.Thr409=) rs9323646
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.1603T>C (p.Leu535=) rs34017190
NM_004863.3(SPTLC2):c.1614G>A (p.Lys538=) rs143770506
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.174G>A (p.Pro58=) rs373828710
NM_004863.3(SPTLC2):c.506G>C (p.Gly169Ala) rs75565823
NM_004863.3(SPTLC2):c.612C>T (p.Cys204=) rs115500562
NM_004863.3(SPTLC2):c.723G>A (p.Thr241=) rs114519796
NM_004863.3(SPTLC2):c.723G>T (p.Thr241=) rs114519796

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