ClinVar Miner

List of variants in gene SPTLC1 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 9
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HGVS dbSNP
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.1254+8del rs0
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904
NM_006415.4(SPTLC1):c.387C>T (p.Gly129=) rs141265918
NM_006415.4(SPTLC1):c.483C>T (p.Ala161=) rs0
NM_006415.4(SPTLC1):c.560+16G>A rs73512337
NM_006415.4(SPTLC1):c.58-19G>C rs0
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) rs150756641
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=) rs0

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