ClinVar Miner

Variants in gene SPTLC1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571 0.00041
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) rs748723735 0.00008
NM_006415.4(SPTLC1):c.640A>G (p.Met214Val) rs781435924 0.00003
NM_006415.4(SPTLC1):c.165+4C>T rs750680286 0.00002
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.1329-9T>C rs778388513

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