ClinVar Miner

Variants in gene SMPD1 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: 14
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NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.5(SMPD1):c.108_113GCTGGC[4] (p.38_39AL[4]) rs3838786
NM_000543.5(SMPD1):c.1340+7C>T rs116480929
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197
NM_000543.5(SMPD1):c.807C>T (p.Ala269=) rs35933246
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669

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