ClinVar Miner

List of variants in gene SPTLC2 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.1622G>A (p.Arg541His) rs375384785 0.00006
NM_004863.4(SPTLC2):c.1226C>T (p.Thr409Met) rs368357970 0.00002
NM_004863.4(SPTLC2):c.970A>G (p.Ile324Val) rs1488039133 0.00002
NM_004863.4(SPTLC2):c.365A>G (p.Tyr122Cys) rs1490373966 0.00001
NM_004863.4(SPTLC2):c.415T>C (p.Cys139Arg) rs150036058 0.00001
NM_004863.4(SPTLC2):c.445A>G (p.Met149Val) rs1309964279 0.00001
NM_004863.4(SPTLC2):c.756+3A>G rs1033756932 0.00001
NM_004863.4(SPTLC2):c.790G>A (p.Ala264Thr) rs1235938820 0.00001
NM_004863.4(SPTLC2):c.1043G>A (p.Ser348Asn)
NM_004863.4(SPTLC2):c.1057G>A (p.Gly353Ser) rs1057523960
NM_004863.4(SPTLC2):c.1144G>A (p.Gly382Ser) rs2079576918
NM_004863.4(SPTLC2):c.128G>A (p.Gly43Asp) rs1057521684
NM_004863.4(SPTLC2):c.1304G>T (p.Gly435Val) rs879253951
NM_004863.4(SPTLC2):c.135C>G (p.Ile45Met) rs1595013409
NM_004863.4(SPTLC2):c.197C>A (p.Thr66Lys) rs2140056267
NM_004863.4(SPTLC2):c.302A>G (p.His101Arg) rs764557377
NM_004863.4(SPTLC2):c.447G>A (p.Met149Ile)
NM_004863.4(SPTLC2):c.508G>C (p.Val170Leu) rs879254055
NM_004863.4(SPTLC2):c.529A>G (p.Asn177Asp) rs1131691917
NM_004863.4(SPTLC2):c.533A>G (p.Tyr178Cys) rs1011016523
NM_004863.4(SPTLC2):c.550A>G (p.Asn184Asp)
NM_004863.4(SPTLC2):c.628A>G (p.Ile210Val) rs761533653
NM_004863.4(SPTLC2):c.649G>T (p.Glu217Ter) rs1555376153
NM_004863.4(SPTLC2):c.768T>G (p.Ile256Met) rs879254003
NM_004863.4(SPTLC2):c.788A>G (p.His263Arg) rs1594991229

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