ClinVar Miner

List of variants in gene SPTLC1 studied for Charcot-Marie-Tooth disease

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Total variants: 37
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HGVS dbSNP
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly)
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) rs371203080
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val)
NM_006415.4(SPTLC1):c.1136+12A>G rs76562923
NM_006415.4(SPTLC1):c.1137-23GT[6] rs147137401
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) rs369803886
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571
NM_006415.4(SPTLC1):c.1254+10C>T rs200704785
NM_006415.4(SPTLC1):c.1254+8del
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487
NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr)
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del)
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) rs150792865
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) rs748723735
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.388G>T (p.Val130Leu) rs200773661
NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg) rs1587953587
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083
NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val)
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006415.4(SPTLC1):c.483C>T (p.Ala161=)
NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His) rs201211989
NM_006415.4(SPTLC1):c.560+16G>A rs73512337
NM_006415.4(SPTLC1):c.560+16G>C rs73512337
NM_006415.4(SPTLC1):c.58-19G>C
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu)
NM_006415.4(SPTLC1):c.781-6A>G rs138268337
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) rs150756641
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln)
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) rs768841574
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) rs267607087
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=)

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