ClinVar Miner

List of variants in gene SPTLC2 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=) rs34418677 0.01229
NM_004863.4(SPTLC2):c.1227G>A (p.Thr409=) rs9323646 0.00560
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_004863.4(SPTLC2):c.1176+7G>A rs74063297 0.00399
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=) rs114519796

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