ClinVar Miner

Variants in gene CYP7B1 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe) rs121908610 0.00001
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601 0.00001
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679

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