ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_006415.4(SPTLC1):c.1136+12A>G rs76562923
NM_006415.4(SPTLC1):c.1137-23GT[6] rs147137401
NM_006415.4(SPTLC1):c.1254+10C>T rs200704785
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006415.4(SPTLC1):c.560+16G>C rs73512337
NM_006415.4(SPTLC1):c.781-6A>G rs138268337

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