ClinVar Miner

List of variants in gene SPTLC2 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.*2936_*2938dup rs200856836
NM_004863.4(SPTLC2):c.*3876GTT[2] rs544851038
NM_004863.4(SPTLC2):c.*5989dup rs149453307
NM_004863.4(SPTLC2):c.-30G>A rs142320856
NM_004863.4(SPTLC2):c.723G>A (p.Thr241=) rs114519796

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