ClinVar Miner

Variants in gene SMPD1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.5(SMPD1):c.108_113GCTGGC[5] (p.38_39AL[5]) rs3838786
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669

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