ClinVar Miner

Variants in gene F5 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) rs118203910 0.00001
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520

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