ClinVar Miner

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

Included ClinVar conditions (172):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571 0.00041
NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His) rs201211989 0.00036
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) rs369803886 0.00009
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) rs748723735 0.00008
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) rs768841574 0.00006
NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu) rs200773661 0.00004
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) rs371203080 0.00002
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val) rs776063730 0.00001
NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr) rs376427329 0.00001
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) rs150792865 0.00001
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln) rs771021842 0.00001
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827 0.00001
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly) rs199606270
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del) rs777170186
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) rs376342795
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu) rs781435924
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) rs267607087

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