ClinVar Miner

Variants in gene MOCS1 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: 6
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_001358530.2(MOCS1):c.1668C>T (p.His556=) rs149233109 0.00240
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=) rs145146059 0.00056
NM_001358530.2(MOCS1):c.981+12C>T rs377628500 0.00045
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043

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