ClinVar Miner

Variants in gene VPS13B with conflicting interpretations "likely pathogenic" and "benign"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117

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