ClinVar Miner

Variants in gene FAH 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: 4
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000137.4(FAH):c.81+12G>A rs200319726 0.00048
NM_000137.4(FAH):c.455+9T>C rs531129429

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