ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) rs121908611 0.00006
NM_004820.5(CYP7B1):c.1150del (p.Asp384fs) rs2129629942
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys) rs367916692
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter) rs769676029
NM_004820.5(CYP7B1):c.730A>T (p.Lys244Ter)

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