ClinVar Miner

Variants in gene FAH with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_000137.4(FAH):c.554-20T>G rs199501793 0.00272
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725 0.00053
NM_000137.4(FAH):c.*51del rs200464452
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.554-15C>T rs774367598

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