ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487 0.01454
NM_006415.4(SPTLC1):c.781-6A>G rs138268337 0.01288
NM_006415.4(SPTLC1):c.*124A>G rs189582528 0.00666
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904 0.00272
NM_006415.4(SPTLC1):c.985-5C>T rs114380004 0.00245
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571 0.00041
NM_006415.4(SPTLC1):c.501A>G (p.Gly167=) rs139980134 0.00004
NM_006415.4(SPTLC1):c.1137-23GT[6] rs147137401
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899

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