ClinVar Miner

List of variants in gene VPS13B reported as likely pathogenic by Neuberg Centre For Genomic Medicine, NCGM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)	rs180177354	0.00002
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)	rs559590419	0.00001

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