ClinVar Miner

Variants in gene VHL 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: 5
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633

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