ClinVar Miner

Variants in gene SMPD1 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: 11
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HGVS dbSNP
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.1091+10G>A rs148067213
NM_000543.5(SMPD1):c.1091+9C>T rs143612450
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669

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