List of variants in gene VPS13B reported as pathogenic by Revvity Omics, Revvity

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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	rs146960401	0.00006
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)	rs120074152	0.00001
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)	rs180177371
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs)	rs2130813918

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