ClinVar Miner

List of variants in gene SPTLC2 reported as pathogenic for Hereditary sensory and autonomic neuropathy type IC

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Total variants: 4
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HGVS dbSNP
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) rs1594986869
NM_004863.3(SPTLC2):c.529A>G (p.Asn177Asp) rs1131691917
NM_004863.3(SPTLC2):c.544G>C (p.Ala182Pro) rs864621998
NM_004863.3(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084

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