ClinVar Miner

List of variants in gene SPTLC2 reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.1603T>C (p.Leu535=) rs34017190 0.00046
NM_004863.4(SPTLC2):c.851-5T>C rs199867946 0.00024
NM_004863.4(SPTLC2):c.174G>A (p.Pro58=) rs373828710 0.00012
NM_004863.4(SPTLC2):c.1065A>T (p.Thr355=) rs138865310 0.00008
NM_004863.4(SPTLC2):c.-38C>T rs375977724 0.00001
NM_004863.4(SPTLC2):c.1059C>T (p.Gly353=) rs747649289 0.00001
NM_004863.4(SPTLC2):c.1320A>G (p.Gln440=) rs377233305 0.00001
NM_004863.4(SPTLC2):c.1440-5T>G rs556451968 0.00001
NM_004863.4(SPTLC2):c.300C>T (p.His100=) rs751864113 0.00001
NM_004863.4(SPTLC2):c.619C>A (p.Arg207=) rs146066422 0.00001
NM_004863.4(SPTLC2):c.756+17T>G rs1057521628 0.00001
NM_004863.4(SPTLC2):c.956+10C>G rs767903051 0.00001
NM_004863.4(SPTLC2):c.*6T>C rs73319080
NM_004863.4(SPTLC2):c.-30G>A rs142320856
NM_004863.4(SPTLC2):c.-30G>C rs142320856
NM_004863.4(SPTLC2):c.128G>C (p.Gly43Ala) rs1057521684
NM_004863.4(SPTLC2):c.1304-4C>G rs1555373207
NM_004863.4(SPTLC2):c.483-6G>T rs991080462
NM_004863.4(SPTLC2):c.597T>C (p.Tyr199=) rs1555376518
NM_004863.4(SPTLC2):c.963G>A (p.Glu321=) rs182880965

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