ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg)
NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His)
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) rs768841574
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) rs267607087

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