ClinVar Miner

List of variants in gene SPTLC1 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 20
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NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly) rs0
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) rs371203080
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val) rs0
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.1259T>C (p.Met420Thr) rs0
NM_006415.4(SPTLC1):c.1302_1304AGA[1] (p.Glu436del) rs0
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.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.442T>G (p.Leu148Val) rs0
NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His) rs201211989
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu) rs0
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln) rs0
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

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